Cohorts

  • ALS - (Batches 1 & 2)
  • Website: https://www.projectmine.com/
  • PI: Prof Ammar Al-Chalabi
  • Affiliation: King's College London, UK
  • The participants of this ALS case control study consisted of a subset of 1433 individuals of UK nationality from the UK National DNA Bank for MND Research who were put forward for DNA methylation profiling. Cases were diagnosed with ALS in one of 20 UK hospitals by neurologists specialized in motor neuron diseases; patients had no family history for ALS and were of self-reported European descent.
  • These data are part of Project MinE. In brief, project MinE is a collaboration of (inter)national groups with the aim to collect 22,500 DNA profiles to investigate rare and common (epi)genetic variation contributing to the development of Amyotrophic Lateral Sclerosis (ALS).
  • For more details please contact Prof Ammar Al-Chalabi (ammar.al-chalabi@kcl.ac.uk)
  • ARIES
  • Accessible Resource for Integrated Epigenomics Studies
  • Website: www.ariesepigenomics.org.uk
  • PIs: Prof George Davey Smith and Prof Caroline Relton
  • CoPIs: Dr Sue Ring, Dr Tom Gaunt, Dr Dave Evans, Dr Sue Ozanne, Prof Anil Wipat and Prof Wolf Reik
  • Affiliation: The University of Bristol, UK
  • ARIES contains GWAS (Illumina Human550W-Quad and Illumina Human660W-Quad BeadChip) data on 1000 mother-infant pairs and Illumina HM450 at 3 infant time points (birth, 7 years and 15-17 years) and 2 maternal time points (antenatal and plus 17 years). Infants include approximately 1:1 males and females and all participants are primarily White British. DNA was derived from cord blood and peripheral whole blood.
  • These participants form part of the larger Avon Longitudinal Study of Parents and Children (ALSPAC) cohort (www.bristol.ac.uk/alspac). This is a longitudinal birth cohort comprising over 14,000 pregnant women enrolled in 1991 and 1992 from the Bristol and surrounding area. Both mother and child have been followed up repeatedly throughout the lifecourse of the project, collating a wealth of environmental, lifestyle and phenotypic data in addition to a sizable biological resource. Whole genome sequencing, expression and metabolomics arrays are available/planned for some of these participants. The participants are broadly representative of the local and UK population.
  • For more details please contact Dr Tom Gaunt (tom.gaunt@bristol.ac.uk)
  • Athero-Express
  • Athero-Express Biobank Study
  • Website: http://www.atheroexpress.nl | Twitter: @atheroexpress
  • PI: Prof Gerard Pasterkamp
  • CoPI: Dr. Sander van der Laan
  • Affiliation: University Medical Center Utrecht, The Netherlands
  • GWAS (see text below) and Illumina HM450 data are available on 500 participants with carotid atherosclerotic disease. Participants are primarily caucasian Dutch, with a mean age 68 years and approximately 70% are male. For the Illumina HM450 experiment DNA derived from carotid plaque tissue of 500 participants was used. In addition, 100 of these 500 participants were randomly picked and methylation was also measured (using Illumina HM450) in blood-derived DNA.
  • These participants form part of the larger Athero-Express Biobank, an ongoing longitudinal study involving over 2,500 patients undergoing treatment for atherosclerotic disease from the St. Antonius Hospital Nieuwegein and University Medical Center Utrecht. Extensive clinical baseline characteristics, clinical chemistry, plaque phenotyping (histologically and proteomic) and followup data (up to 10 years) are available for these participants.
  • Additionally N=1,500 participants were genotyped for common SNPs (Affymetrix Genome-Wide Human SNP Array 5.0, N=572; and Affymetrix Axiom Genome-Wide CEU 1 Array, N=1,000) and exome SNPs (Illumina HumanExome BeadChip v1.2, N=1,500).
  • For more details please contact Dr. Sander van der Laan (s.w.vanderlaan-2@umcutrecht.nl)
  • The BAMSE Study
  • PI: Dr. Erik Melén
  • Affiliation: Karolinska Institute, Stockholm, Sweden
  • The BAMSE (Swedish abbreviation for Children, Allergy, Milieu, Stockholm, Epidemiology) study is a Swedish longitudinal prospective birth cohort study of 4,089 children born between 1994 and 1996 in the area of Stockholm [Ballardini et al. 2016]. At ages 1, 2, 4, 8, 12 and 16 years, parents completed questionnaires on their children's health including allergic symptoms and diseases. At ages 4,8 and 16 years, a clinical follow-up (including blood sampling for DNA extraction) was performed.
  • For more details please contact Dr. Erik Melén (erik.melen@ki.se)
  • Biologics in Rheumatoid Arthritis Genetics and Genomics Study Syndicate
  • Website: http://www.braggss.co.uk/
  • PI: Prof Anne Barton
  • CoPI: Dr Darren Plant
  • Steering Committee: Prof John Isaacs, Prof Anthony Wilson, Prof Ann Morgan, Dr Kimme Hyrich
  • Affiliation: The University of Manchester, UK
  • GWAS (Illumina HumanOmniExpress BeadChip) and Illumina HM450 data are available for 36 good and 36 non-responders to etanercept therapy. Participants include approximately 80% females in both groups, have a mean age of 60 years and are primarily White British. DNA was derived from peripheral whole blood prior to treatment with anti-TNF.
  • This is a within cohort study taken from the wider BRAGGSS cohort. All individuals have established rheumatoid arthritis and are about to commence therapy with biologic drug therapy at inclusion. The primary aim of the project is to identify biomarkers of response to therapy. A wealth of data regarding disease and treatment history are available on the complete cohort of over 2,500 participants. Whole blood expression arrays and Illumina HM450 data on further participants is expected shortly.
  • For more details please contact Prof Anne Barton (anne.barton@manchester.ac.uk)
  • Born in Bradford
  • Website: https://borninbradford.nhs.uk
  • PI: Prof Debbie Lawlor
  • Affiliation: University of Bristol, UK
  • Born in Bradford is a longitudinal multi-ethnic birth cohort study aiming to examine the impact of environmental, psychological and genetic factors on maternal and child health and wellbeing [Wright et al. 2013] Bradford is a city in the North of England with high levels of socio-economic deprivation and ethnic diversity. Women were recruited at the Bradford Royal Infirmary at 26-28 weeks gestation. For those consenting, a baseline questionnaire was completed. The full BiB cohort recruited 12,450 women comprising 13,773 pregnancies and 13,858 children between 2007 and 2010. Results of an oral glucose tolerance test (OGTT) and lipid profiles were obtained on the mothers during pregnancy at 28 weeks gestation, and pregnancy serum, plasma and urine samples have been stored. Cord blood samples have been obtained and stored and DNA extraction has been completed on all cord and pregnancy samples. The cohort is broadly characteristic of the city's maternal population. Mean age of the mothers at study recruitment was 27 years old. Researchers are looking at the links between the circumstances of a child's birth, the context in which they grow up, their health and well-being and their educational progress.
  • For more details please contact Prof Debbie Lawlor (d.a.lawlor@bristol.ac.uk)
  • Brisbane Systems Genetics Study
  • Website:www.qtwin.org.au (Queensland Twin Registry)
  • PI: Dr Allan McRae
  • CoPIs: Prof Grant Montgomery, Prof Peter Visscher, Prof Nick Martin.
  • Affiliation: University of Queensland Diamantina Institute, Queensland Brain Institute, and QIMR Berghofer Medical Research Institute (Australia)
  • GWAS (Illumina Human610-Quad BeadChip) and Illumina HM450 data are available for 614 related individuals from 117 families. These include twins (n=67 MZ, 111 DZ), siblings (n=119) and parents (n=139). Individuals are 1:1 males and females, children have a mean age of 14 years (range 9-23), adults 47 years (range 33-75). Participants are Australians with European ancestry. DNA was obtained from peripheral blood lymphocytes.
  • This study has been initiated to investigate the inheritance of DNA methylation profiles using individuals from the Queensland Twin Registry. This is a population-based registry of identical and non-identical twins of all ages either born or living in Queensland. A range of demographic, health and developmental data have been collected for these individuals, including information on morphological traits, serum biochemistry, haematology, melanoma risk, ophthalmology, cognition, MRI and psychiatric measures. Expression arrays, Biocrates Metabolomics and telomere length data are available for some of these individuals.
  • For more details and a full list of phenotypes please contact Dr Allan McRae (a.mcrae@uq.edu.au) or Prof Nick Martin (nick.martin@qimrberghofer.edu.au)
  • The Center for Biomedical Research Excellence
  • COBRE
  • Website:http://cobre.mrn.org
  • PI: Dr. Vince Calhoun
  • Affiliation: The Mind Research Network
  • Schizophrenia and control study from saliva
  • For more details please contact Dr. Vince Calhoun (vcalhoun@mrn.org)
  • Database of ischemic stroke from Hospital del Mar
  • BASICMAR
  • PIs: Dr. Jaume Roquer, Dr. Jordi Jimenez-Conde
  • CoPI: Dr. Carolina Soriano-Tárraga
  • Affiliation: UHospital del Mar - IMIM (Institut Hospital del Mar d'Investigacions Mèdiques)
  • BASICMAR is a prospective registry of stroke patients recruited in Hospital del Mar in Barcelona (Spain) [Roquer et al. 2008]. The BASICMAR Register prospectively recruited all consenting patients who were admitted to our hospital from 2005 to 2017 (n=7200) with a diagnosis of stroke fulfilling World Health Organization criteria. From those enrolled in BASICMAR register, 598 blood DNA samples of ischemic stroke patients were selected for analysis. Inclusion criteria in BASICMAR cohorts were as follows: first-ever IS, brain imaging with CT or MRI and availability of the clinical data supporting the assigned stroke subtype according to TOAST classification [Adams et al. 1993] All patients were assessed and classified by a neurologist and were included in the study by consecutive order of recruitment. All subjects were of European descent.
  • For more details please contact Dr. Jaume Roquer (35826@parcdesalutmar.cat, Dr. Jordi Jimenex-Conde (jjimenez@imim.es) or Carolina Soriano-Tárraga (csoriano@imim.es)
  • Dunedin Longitudinal Study
  • PIs: Prof Avshalom Caspi & Prof Richie Poulton
  • Affiliations: Duke University/ University of Otago
  • Multidisciplinary study of health and development from birth to age 38 years.
  • Participants are members of the Dunedin Multidisciplinary Health and Development Study, a longitudinal investigation of the health and behavior of a representative birth cohort of consecutive births between April 1972 and March 1973 in Dunedin, New Zealand. The cohort of 1,037 children (52% boys) was constituted at age 3 as 91% of eligible births resident in the province. The cohort represents the full range of socioeconomic status on NZ's South Island and matches the NZ National Health and Nutrition Survey on adult health indicators (e.g., BMI, smoking, GP visits; [Poulton et al. 2015]. Cohort members are primarily white; approximately 7% self-identify as having any non-white ancestry, matching the South Island. Follow-up assessments were conducted at ages 5, 7, 9, 11, 13, 15, 18, 21, 26, 32, and most recently 38, when 95% of the 1,007 living study members underwent assessment in 2010-2012.
  • For more details please contact Prof Avshalom Caspi (Avshalom.caspi@duke.edu) or Prof Richie Poulton (richie.poulton@otago.ac.nz)
  • EMPHASIS
  • Website: https://www.emphasisstudy.org
  • PI: Dr. Matt Silver
  • Affiliation: MRC International Nutrition Group at London School of Hygiene and Tropical Medicine (UK) and MRC Keneba (The Gambia)
  • EMPHASIS is a joint initiative between research institutes in the UK, India and The Gambia, established to investigate the epigenetic mechanisms by which maternal nutrition before and during pregnancy could influence offspring health.
  • For more details please contact Dr Matt Silver (matt.silver@lshtm.ac.uk)
  • Environmental Risk Longitudinal Twin Study (E-Risk)
  • PIs: Prof Terrie Moffitt and Prof Louise Arseneault
  • Affiliations: Duke University/ King's College London, UK
  • Participants were members of the Environmental Risk (E-Risk) Longitudinal Twin Study, which tracks the development of a 1994-95 birth cohort of 2,232 British children [Moffitt et al. 2002]. Briefly, the E-Risk sample was constructed in 1999-2000, when 1,116 families (93% of those eligible) with same-sex 5-year-old twins participated in home-visit assessments. This sample comprised 56% monozygotic (MZ) and 44% dizygotic (DZ) twin pairs; sex was evenly distributed within zygosity (49% male). The study sample represents the full range of socioeconomic conditions in Great Britain, as reflected in the families' distribution on a neighborhood-level socioeconomic index (ACORN [A Classification of Residential Neighbourhoods] [Odgers et al. 2012], developed by CACI Inc. for commercial use): 25.6% of E-Risk families live in "wealthy achiever" neighborhoods compared to 25.3% nationwide; 5.3% vs. 11.6% live in "urban prosperity" neighborhoods; 29.6% vs. 26.9% in "comfortably off" neighborhoods; 13.4% vs. 13.9% in "moderate means" neighborhoods; and 26.1% vs. 20.7% in "hard-pressed" neighborhoods. E-Risk underrepresents "urban prosperity" neighborhoods because such households are often childless.
  • For more details please contact Prof Terrie Moffitt (terrie.moffitt@duke.edu) or Prof Louise Arseneault (louise.arseneault@kcl.ac.uk)
  • EGCUT
  • Estonian Biobank
  • Website:http://www.biobank.ee
  • PI: Prof Andres Metspalu
  • CoPIs: Dr Lili Milani, Ms Silva Kasela, Mr Mart Kals
  • Affiliation: Estonian Genome Center, University of Tartu, Estonia
  • GWAS (Illumina HumanOmniExpress BeadChip) and Illumina HM450 data are available for 94 cases with early-onset asthma and 94 matched controls. Participants are primarily White Estonian, approximately 1:1 males and females with a mean age of 34 years (range 18-74). DNA was obtained from peripheral whole blood.
  • GWAS (Illumina HumanOmniExpress BeadChip) and Illumina HM450 data are available for an additional 100 individuals with paired peripheral whole blood, CD4+ and CD8+ purified cells. These individuals were randomly selected from the wider population-based Biobank and include 50 young adults (range 22-34 years, mean 29) and 50 elderly adults (range 73-84 years, mean 76). They are primarily White Estonian and approximately 1:1 males and females.
  • These studies were initiated to investigate epigenetic factors contributing towards asthma and epigenetic regulation of gene expression in immune cells utilising samples from the Estonian Biobank. In addition to biological samples, this Biobank records a wealth of data relating to demographic, socioeconomic, lifestyle, and health factors. Multiple expression arrays, NMR metabolomics and blood biochemistry measurements are also available for some of these individuals.
  • For more details please contact Dr Lili Milani (lili.milani@ut.ee)
  • European Prospective Investigation into Cancer and Nutrition
  • Website: epic.iarc.fr
  • PI: Prof Paolo Vineis
  • CoPIs: Dr Silvia Polidoro
  • Affiliation: Imperial College London (UK) and HuGeF Foundation (Italy)
  • Illumina HM450 data are available on 164 incident breast cancer cases, 169 incident colon cancer cases and their 333 matched controls. The breast cancer cases and controls are female with a mean age of 53 years (range 35-70). The colon cancer cases and controls are 54% male with a mean age of 55 years (range 36-72). Participants are primarily White Italian. DNA was obtained from peripheral blood lymphocytes (buffy coats).
  • These participants were drawn from the Italian component of the European Prospective Investigation into Cancer and Nutrition (EPIC) cohort. This is a large general population-based cohort consisting of over 520,000 individuals with standardized lifestyle and personal history questionnaires, anthropometric data and blood samples collected prospectively for DNA extraction. EPIC was designed to investigate the relationships between diet, nutritional status, lifestyle and environmental factors and the incidence of cancer and other chronic diseases.
  • For more details please contact Prof Paolo Vineis (p.vineis@imperial.ac.uk)
  • European Prospective Investigation of Cancer - Norfolk (EPIC-Norfolk)
  • PI: Dr John Perry; Dr Ken Ong;Felix Day
  • Affiliation: MRC Epidemiology Unit, University of Cambridge
  • The EPIC-Norfolk study is a prospective cohort study that recruited 25,639 individuals aged between 40-79 years at baseline in 1993-1997. The cohort was representative of the general population of England and Wales for age, sex, anthropometric measures, blood pressure and serum lipids, but differed in that 99.7% of the cohort were of European descent. We defined a random sub-cohort of the whole EPIC-Norfolk study population excluding known prevalent cases of diabetes at baseline using the same definitions as used in the InterAct project2 who had available genotype data. Incident T2DM cases were ascertained from multiple sources: two follow-up health and lifestyle questionnaires providing self-reported information on doctor-diagnosed diabetes or medications; medications brought to the second clinical exam; and medical record linkage. Record linkage to external sources included the listing of any EPIC-Norfolk participant in the general practice diabetes register, local hospital diabetes register, hospital admissions data with screening for diabetes-related admissions, and Office of National Statistics mortality data with coding for diabetes. Participants who self-reported a history of diabetes which could not be confirmed against any other sources were not considered as confirmed cases. Follow-up was censored at date of diagnosis of T2DM, 31 July 2006, or date of death, whichever came first.
  • For more details please contact Dr. John Perry (john.perry@mrc-epid.cam.ac.uk); Ken Ong Ken.Ong@mrc-epid.cam.ac.uk); Felix Day (Felix.Day@mrc-epid.cam.ac.uk)
  • Finnish Twin Cohort (FTC)
  • FTC
  • Website: www.twinstudy.helsinki.fi
  • PIs: Prof. Jaakko Kaprio, Dr. Miina Ollikainen
  • Affiliation: University of Helsinki, Finland
  • The Finnish twin cohort (FTC) of twins born before 1958 was established in year 1974 with the aim to examine the genetic, environmental, and psychosocial determinants affecting public health outcomes including several chronic diseases and health behaviours [Kaprio 2013]. Later cohorts of twins born in 1975-1979 (Finntwin16 study) and twins born in 1983-1987 (Finntwin12 study) have been studied. All cohorts have been assessed repeatedly and followed through multiple medical and population registries. Based on questionnaire response, subsets of pairs have been invited to in-person studies for detailed phenotyping and biosampling.
  • For more details please contact Prof Jaakko Kaprio (jaakko.kaprio@helsinki.fi); Miina Ollikainen miina.ollikainen@helsinki.fi)
  • French-Canadian family study on Factor V Leiden (F5L) thrombophilia
  • PI: Prof. France Gagnon
  • CoPI: Dr. Phil Wells
  • Affiliation: University of Toronto, Canada
  • GWAS (Illumina Human660W-Quad BeadChip) and Illumina HM450 data are available for 227 related individuals from 5 families spanning over 4 generations. Participants are French-Canadian, approximately 1:1 males and females with a mean age of 40 years (range 19-93). DNA was obtained from peripheral whole blood.
  • This study sample was established to investigate genetic determinants of thrombosis-related endophenotypes, and recently expanded its scope to include clinically-relevant epigenetic determinants. Five extended French-Canadian families (spanning 4-5 generations) ascertained on a single proband with factor V Leiden thrombophilia and venous thromboembolism have been recruited. Data regarding haemostatic and thrombosis quantitative traits; metabolic syndrome-related quantitative traits; environmental covariates (e.g. medications, smoking, physical activity); and medical history are available. Microsatellite and candidate gene genotypes are already available while metabolomics and metallomic profiling are planned for these participants.
  • For more details please contact Dr France Gagnon (france.gagnon@utoronto.ca)
  • Generation R Study
  • PI: Prof. Vincent Jaddoe
  • Affiliation: Erasmus Medical Center, The Netherlands
  • The Generation R Study is a prospective population-based cohort [Kooijman et al. 2016] . All pregnant women living in the city of Rotterdam, the Netherlands with a delivery date between April 2002 and January 2006 were invited to participate. In total, 9,778 mothers were enrolled in the study.
  • For more details please contact Dr Janine Felix (j.felix@erasmusmc.nl)
  • Generation Scotland: Scottish Family Health Study (GS:SFHS)
  • PIs: Andrew M McIntosh, Kathryn L Evans, Chris Haley, Alison Murray
  • Co-PIs: Yanni Zheng, Toni-Kim Clarke and Rosie M Walker
  • Affiliation: The University of Edinburgh, UK
  • GS:SFHS is a population- and family-based cohort comprising ~24,000 individuals from the Scottish population recruited between 2006 and 2011. The cohort has been described in detail previously [Smith et al. 2013]. Blood samples for DNA extraction were obtained at the time of recruitment to GS:SFHS.
  • For more details please contact Dr Kathy Evans (Kathy.Evans@igmm.ed.ac.uk)
  • GOYA
  • Genetics of Overweight Young Adults (GOYA)
  • PIs: Thorkild Sørensen; Ellen Aagaard Nøhr
  • Affiliation: University of Helsinki,Finland
  • The Genetics of Overweight Young Adults study (GOYA) study is described in [Paternoster et al. 2011]. It includes a subset of 91,387 pregnant women recruited to the Danish National Birth Cohort (DNBC) during 1996-2002. Of 67,853 women who had given birth to a live born infant, had provided a blood sample during pregnancy and had body mass index (BMI) information available, 3.6% of these women with the largest residuals from the regression of BMI on age and parity (all entered as continuous variables) were selected for GOYA. The BMI for these 2451 women ranged from 32.6 to 64.4. From the remaining cohort, a random sample of similar size (2450) was also selected. In total, 3908 mothers were successfully genotyped. DNA methylation data were generated for the offspring of 1000 mothers in the GOYA study, equally distributed between "cases" with a BMI>32 and "controls" who were sampled from the remaining BMI distribution.
  • For more details please contact Ellen Aagaard Nøhr (eanohr@health.sdu.dk)
  • Genomic response to severe nutrient stress in childhood
  • PI: Dr. Neil Hanchard
  • Affiliation: Baylor College of Medicine
  • Case-control study of dichotomous phenotypes in severe childhood malnutrition.
  • For more details please contact Dr. Neil Hanchard (hanchard@bcm.edu)
  • GLAKU
  • PIs: Katri Räikkönen, Jari Lahti
  • Affiliation: University of Helsinki,Finland
  • Glaku cohort is a longitudinal community-based cohort born in Helsinki in 1998. The development of the participants of this cohort has been followed intensively with multidisciplinary methods. At the age of 8, 12 and 17 years, sleep of the participants were measured, including a sleep EEG at the latest follow-up. A large variation in different aspects of behavior, health, cognition and development measured in the different follow-ups allow a rich examination of the sleep, its developmental paths, and sleep-related phenomena.
  • For more details please contact Katri Räikkönen (katri.raikkonen@helsinki.fi); Jari Lahti (jari.lahti@helsinki.fi)
  • Grady
  • Grady Trauma Project
  • PI: Dr. Elisabeth Binder
  • Affiliation: Department Translational Research in Psychiatry, Max-Planck-Institute for Psychiatry
  • Investigation of genetic and environmental factors for responses to stressful life events. Participants are mainly black with low-income and a high prevalence of trauma.
  • For more details please contact Dr. Elisabeth Binder (binder@psych.mpg.de)
  • GSK
  • PI: Dr. Elisabeth Binder
  • Affiliation: Department Translational Research in Psychiatry, Max-Planck-Institute for Psychiatry
  • Patients with recurrent unipolar depression were recruited from in- and out-patients at the Max Planck Institute of Psychiatry in Munich and psychiatric hospitals in Augsburg and Ingolstadt, located close to Munich. Each hospital contributed one-third of the patients. Patients were diagnosed by WHO-certified raters according to DSM-IV using the Schedule for Clinical Assessment in Neuropsychiatry. Only Caucasian patients over 18 years with at least two moderate-to-severe depressive episodes were included. Exclusion criteria were the presence of manic or hypomanic episodes, mood incongruent psychotic symptoms, the presence of a lifetime diagnosis of intravenous drug abuse and depressive symptoms only secondary to alcohol or substance abuse or dependence or to a medical illness or medication. Ethnicity was recorded using a self-report sheet for perceived nationality, first language and ethnicity of the subject himself, parents and all four grandparents. Controls matched for ethnicity (using the same questionnaire as for patients), sex and age (to 5-year intervals) were recruited at the Max Planck Institute of Psychiatry. Controls were randomly selected from a Munich-based community sample and screened for the presence of anxiety and affective disorders. All included controls were Caucasian and 93.04% were of German origin. These subjects thus represent a group of healthy individuals with regard to depression and anxiety.
  • For more details please contact Dr. Elisabeth Binder (binder@psych.mpg.de)
  • INMA
  • Infancia y Medio Ambiente Project
  • Website: http://www.proyectoinma.org/
  • PI: Dr Jordi Sunyer
  • CoPIs: Dr Mariona Bustamante, Dr Eva Morales, Ms Nadia Vilahur
  • Affiliation: Center for Research in Environmental Epidemiology (CREAL), Spain
  • GWAS data (Illumina HumanOmni1-Quad array + imputation 1000G) are available in approximately 230 individuals with Illumina HM450 data from two tissue types and from samples collected at two time points. Firstly, Illumina HM450 data are available from around 200 paired samples taken at birth (cord blood) and age 4 years (peripheral whole blood), around 180 with GWAS. Secondly, Illumina HM450 data are available from placental DNA for 180 individuals (approximately 75 with GWAS). Twenty-five children have GWAS and Illumina HM450 data from placenta, blood at birth and blood at age 4y. Individuals are approximately 1:1 males and females and primarily White Spanish.
  • These participants form part of the larger INMA cohort. This is a population-based birth cohort of children followed from birth to age 14 years, recruited from 7 distinct regions within Spain. The primary aim of this project is to investigate the effects of environmental pollutants (in air, water and diet) during pregnancy and early life on infants growth and development. A wealth of demographic, exposure, developmental and health data are available. INMA also forms part of the EU project MeDALL (Mechanisms of the Development of ALLergy). Illumina HM450 data from blood was obtained within MeDALL (asthma case-control design). Global DNA methylation measures using pyrosequencing of repetitive elements in placenta are also available for these individuals along with a range of serum biomarkers (proteomics/metabolites). Expression arrays are anticipated shortly.
  • For more details please contact Dr Mariona Bustamante (mariona.bustamante@crg.eu)
  • IOW F2
  • Isle of Wight - 3rd Generation Study
  • Website: http://www.allergyresearch.org.uk/studies/the-third-generation-study//studies.html
  • PIs: Prof John W Holloway, Prof Syed Hasan Arshad, Dr Hongmei Zhang, Prof Wilfried Karmaus, Prof Susan Ewart
  • Affiliation: University of Southampton (UK), University of Memphis and Michigan State University (USA)
  • Illumina HM450 data are available for 95 infants from the F3 generation (see text below) and their parents (n=256) (F2 generation). For the F3 generation infants, DNA was extracted from cord blood taken at birth. For parents, DNA was obtained from peripheral whole blood taken at the same time (age range 22-24 years). Participants are primarily White British and approximately 1:1 males and females for offspring and 1:3 for parents.
  • Illumina HM450 data are also available on 367 individuals from the F2 generation (see text below). Participants are primarily White British, approximately 1:2 males and females. DNA was obtained from peripheral whole blood taken when participants were aged 18 years.
  • The 3rd generation study was established to investigate the transgenerational epigenetic inheritance of allergy in a multigenerational cohort. Participants were identified from the wider Isle of Wight Birth Cohort Study. This is an unselected population-birth cohort, which recruited individuals born on the Isle of Wight (UK) between 1st January 1989 and 28th February 1990 (F2 generation) and their parents (F1 generation). Participants have been followed prospectively and extensive longitudinal information has been gathered to monitor and investigate the natural history of asthma and allergic disease within this population. The 3rd generation study is an extension of this birth cohort, recruiting partners and subsequent offspring (F3 generation) of the original birth cohort members (F2 generation). Recruitment is still on going and more epigenetic data are anticipated.
  • For more details please contact Prof John W Holloway (j.w.holloway@soton.ac.uk) or Dr Gabrielle Lockett (g.a.lockett@soton.ac.uk)
  • Italian cardiovascular section of EPIC (EPICOR Study)
  • PI: Prof Giuseppe Matullo
  • Affiliation: MRC Epidemiology Unit, University of Cambridge
  • The Italian cardiovascular section of EPIC (EPICOR study) is a case-cohort study nested in the European Prospective Investigation into Cancer and Nutrition (EPIC)-Italy cohort. The EPIC-Italy cohort comprises about 50,000 participants enrolled between 1992 and 1998, who provided at enrolment a detailed dietary and lifestyle questionnaire and a blood sample that was stored in liquid nitrogen for later use. The EPIC cohort is regularly followed up for the occurrence of cancers and other non-communicable diseases of adulthood. Four EPIC-Italy centers (Turin, Varese, Naples, and Ragusa) provided samples to EPICOR. The whole EPICOR study comprises more than 1,500 subjects with cardiovascular outcomes such as myocardial infarction (MI), acute coronary syndrome, ischemic cardiomyopathy, coronary or carotid revascularization, ischemic- or hemorrhagic stroke. Within the EPICOR cohort, a subset of 584 subjects (292 MI cases and 292 matched controls) was analyzed as a nested case-control study and underwent DNA methylation analysis (3) and whole genome genotyping.
  • For more details please contact Prof Giuseppe Matullo (giuseppe.matullo@unito.it)
  • KORA
  • Cooperative Health Research in the Augsburg Region ("Kooperative Gesundheitsforschung in der Region Augsburg")
  • Website: http://www.helmholtz-muenchen.de/kora
  • PIs: Dr Melanie Waldenberger and Dr Christian Gieger
  • CoPIs: Annette Peters, Thomas Meitinger, Thomas Illig, Konstantin Strauch, Sonja Zeilinger, Eva Reischl, Harald Grallert, Simone Wahl
  • Affiliation: Helmholtz Zentrum München, Germany
  • GWAS (Affymetrix Axiom Genome-Wide Human Array and Illumina HumanExome BeadChip) and Illumina HM450 data are available for 500 KORA F3 (see text below) and 1800 KORA F4 participants. Illumina HM450 arrays are also planned for an additional 1000 S4 participants. These participants are primarily White German, ranging from 30-80 years of age and approximately 1:1 males to females. DNA was derived from peripheral whole blood.
  • These participants form part of the larger KORA study. This is a longitudinal population-based cohort within the Augsburg region of Germany. Participants are a representative random sample of all inhabitants, aged 25-74 years. KORA F3 and KORA F4 are follow-up studies of two independent KORA surveys. The focus of KORA research endeavour is to survey the development and course of chronic diseases (in particular myocardial infarction and diabetes mellitus) and ultimately to provide new approaches to the field of chronic disease prevention. Lifestyle (as e.g. smoking, diet, or exercise), environmental (e.g. air pollution, environmental noise) and genetic risk factors are being explored. A number of metabolomics and expression array data are available on some of the KORA participants.
  • For more details please contact Dr Melanie Waldenberger (waldenberger@helmholtz-muenchen.de)
  • Leiden Longevity Study
  • Website: www.leidenlangleven.nl
  • PIs: Prof Eline Slagboom and Dr. Bas Heijmans
  • CoPIs: Dr. Marian Beekman, Dr. Diana van Heemst
  • Affiliation: Leiden University Medical Center, Leiden, The Netherlands
  • It is family based study consists of 1671 offspring of 421 nonagenarians sibling pairs of Dutch descent, and their 744 partners. In the current EWAS initiative 793 individuals with available DNA methylation data and phenotypic data (mean age = 60 years) were included.
  • For more details please contact Dr. Bas Heijmans (b.t.heijmans@lumc.nl)
  • Lothian Birth Cohorts of 1921 and 1936 (LBC1921 and LBC1936)
  • Website: www.lothianbirthcohort.ed.ac.uk
  • PI: Prof Ian Deary
  • CoPIs: Prof John Starr, Prof Peter Visscher, Dr Sarah Harris, Dr Gail Davies, Dr Riccardo Marioni
  • Affiliation: University of Edinburgh, UK
  • GWAS (Illumina Human 610-Quad and Illumina HumanExome Beadchip) and Illumina HM450 data are available for 550 and 1,091 individuals at multiple time points from the LBC1921 and LBC1936, respectively. Specifically, after quality control, for LBC1921: 446 at 79 years, 175 at 87 years and 82 at 90 years; for LBC1936: 920 at 70 years, 299 at 73 and 273 at 76 years. Participants with methylation measures at the second and third time points in both cohorts also had methylation measures at all preceding waves. These participants are all White British; 43% (LBC1921) and 50% (LBC1936) are male. DNA was derived from peripheral whole blood.
  • The LBC studies are two birth cohorts that follow up participants of the 1932 and 1947 Scottish Mental Surveys, when almost all 11 year old schoolchildren in Scotland completed a cognitive test. Participants living in the Lothian area have been traced and revisited with extensive later life phenotypic data collected at ages 70, 73, 76 years (LBC1936) and ages 79, 83, 87, 90 years (LBC1921). These cohorts are principally used to examine the contributions to cognitive change from childhood to old age, and to cognitive change within old age. There are detailed cognitive data, socio-demographic and psycho-social data, biomedical data, and brain scans.[Taylor et al. 2018] There are cohort protocol and cohort profile articles for both Lothian Birth Cohort studies.
  • For more details please contact Prof Ian Deary (Ian.Deary@ed.ac.uk)
  • MARseille THrombosis Association Study
  • PI: Dr David-Alexandre Trégouët
  • CoPIs: Pr Pierre-Emmanuel Morange, Mr Dylan Aïssi
  • Affiliation: INSERM UMR_S 1166, ICAN Institute for Cardiometabolism And Nutrition, France
  • GWAS (Illumina Human660W-Quad BeadChip and Illumina Human610-Quad BeadChip) and Illumina HM450 data are available on 350 patients with documented venous thromboembolism. Participants are approximately 78% female, have a mean age of 44 years (range 17-87) and are primarily White French. DNA was obtained from peripheral whole blood.
  • These participants form part of the larger MARTHA cohort. This is a hospital-based cohort of over 1,500 unrelated individuals recruited at the Thrombophilia center of La Timone hospital (Marseille, France) between January 1994 and October 2005. All patients had a history of a first venous thromboembolic event documented by venography, Doppler ultrasound, angiography and/or ventilation/perfusion lung scan. They were all free of any chronic conditions and free of any well characterized genetic risk factors including anti-thrombin, protein C or protein S deficiency, homozygosity for FV Leiden or FII 20210A, and lupus anticoagulant. A wealth of demographic, lifestyle, health and disease related data have been collected [Oudot-Mellakh et al. 2012]. Serum biomarkers and blood cell counts are also available for these individuals.
  • For more details please contact Dr David-Alexandre Trégouët (david.tregouet@upmc.fr)
  • MRC - NSHD
  • Medical Research Council - National Survey of Health and Development
  • Website: http://www.nshd.mrc.ac.uk/
  • PI: Prof Diana Kuh
  • Affiliation: MRC Unit for Lifelong Health and Ageing at UCL
  • GWAS (Illumina HumanCardio-Metabo BeadChip) is available on 2,500 individuals, Illumina HM450 data are additionally available for 800 females aged approximately 53 years. Participants are primarily White British. DNA was obtained from whole blood and buccal swabs, respectively.
  • These participants form part of the wider MRC NSHD; the oldest of the British birth cohort, comprising of a representative sample of over 5,300 men and women born in England, Scotland or Wales in March 1946. The sample includes single, legitimate births whose fathers were in non-manual or agricultural occupations and a randomly selected one in four of all other births whose fathers were in manual labour. These individuals have been followed prospectively and a range of phenotypes and data relating to health and social circumstances across the life course are available. The mission of the project is to lead scientific discovery into life course influences on normal and healthy ageing; transfer knowledge to policymakers, health practitioners and other research users; and ultimately to promote healthy ageing.
  • For more details please contact Dr Andy Wong (andrew.wong@ucl.ac.uk)
  • MDEG
  • Methyl-Donors and EpiGenetics in The Gambia
  • PIs: Paula Dominguez Salas, Dr Sophie Moore, Dr Branwen Hennig
  • Affiliation: MRC International Nutrition Group at London School of Hygiene and Tropical Medicine (UK) and MRC Keneba (The Gambia)
  • CoPIs: Prof Robert Waterland (USDA/ARS Children's Nutrition Research Center, Houston, USA); Prof Zdenko Herceg (International Agency for Cancer Research, Lyon, France)
  • GWAS (Illumina HumanExome BeadChip) and Illumina HM450 data are available for 140 individuals aged approximately 3 years. Infants are 1:1 males to females. All participants have Gambian nationality; 95% are Mandinka, 5% are Fula or Jola. DNA was derived from peripheral whole blood.
  • MDEG is a cohort study established to explore the effects of season-of-conception and maternal nutritional status in pregnancy (specifically one carbon metabolites) on DNA methylation in offspring. A range of maternal and demographic factors are available. In addition, detailed anthropometric data have been collected at 3-6 months and 2 years of age and will be investigated in relation to exposure and epigenetic factors. Half of the participants form part of the larger Early Nutrition and Immune Development (ENID) trial and the population captured by the Demographic Surveillance System of MRC Keneba. Further candidate gene methylation data and expression arrays are available for the 140 MDEG samples. Additional GWAS and Illumina HM450 analyses are planned across these cohorts.
  • For more details please contact Dr Matt Silver (matt.silver@lshtm.ac.uk)
  • Multi Case-Control Study Spain, working group on water contaminants
  • Website: http://www.mccspain.org/
  • PIs: Dr Cristina Villanueva (methylation data), Dr Manolis Kogevinas and Dr Marina Pollan (MCC coordinators)
  • CoPIs: Dr Lucas Salas, Dr Mariona Bustamante, Dr Gemma Castaño, Dr Ana Espinosa
  • Affiliation: Center for Research in Environmental Epidemiology (CREAL), Spain
  • GWAS (Illumina HumanExome BeadChip) and Illumina HM450 data are available on 138 healthy controls with a mean age of 70 years (range 60-80 yrs). Participants are approximately 54% male and White Spanish from the Barcelona metropolitan area. DNA was obtained from peripheral whole blood.
  • These participants are part of the larger MCC study. This is a population-based multicase-control study established to evaluate the influence of environmental factors and their interaction with genetic factors in five cancers (specifically: colorectal, breast, prostate, stomach and chronic lymphocytic leukaemia). A total population of 10,137 subjects were recruited from across Spain between 2007 and 2012. A wealth of demographic, environmental and health-related data have been collected.
  • For more details please contact Dr Cristina Villanueva (cvillanueva@creal.cat)
  • PIs: Dr. Elisabeth Binder
  • CoPIs: Dr. Yvonne Awaloff
  • Affiliation: Department Translational Research in Psychiatry, Max-Planck-Institute for Psychiatry
  • Designed to predict drug response and to address individual treatments to homogenous subgroups, [Hennings et al. 2009].
  • For more details please contact Dr. Elisabeth Binder (binder@psych.mpg.de)
  • NTR
  • Netherlands Twin Register
  • Website: http://www.tweelingenregister.org/en/
  • PI: Prof Dorret Boomsma
  • CoPIs: Dr Jouke Jan Hottenga, Dr Gonneke Willemsen, Dr Jenny van Dongen
  • Affiliation: Vrije Universiteit Amsterdam, The Netherlands
  • GWAS (Affymetrix Genome-Wide Human SNP Array 6.0) and Illumina HM450 data are available for 3200 individuals from the Netherlands Twin Register. Participants are primarily born in the Netherlands, with a mean age of 35 years (range 18-85) and 60% are female. DNA was obtained from peripheral whole blood samples.
  • The Netherlands Twin Register (NTR) was founded in 1987 at the Vrije Universiteit in Amsterdam. A large number of families with twins and multiple births, comprising over 175,000 subjects (multiples, parents, siblings, spouses etc.), are registered and followed throughout their lifecourse. The aim of the NTR is to examine the contribution of genomics to personality, growth, development, disease and risk factors. A wealth of data regarding demographics, health and lifestyle, brain development, intelligence, problem behaviour, anxiety and depression, personality and ageing are available. A range of serum biomarkers, blood cell counts, metabolomics, expression arrays, whole-genome sequencing are available for many of the participants with GWAS data generated on 10,000 individuals.
  • For more details please contact Prof Dorret Boomsma (di.boomsma@vu.nl)
  • NCL
  • Norway Facial Clefts Study
  • Website: https://www.niehs.nih.gov/research/atniehs/labs/epi/studies/ncl/index.cfm
  • PIs: Dr Jack Taylor, Dr Allen Wilcox, Dr Rolv Terje Lie
  • Affiliations: National Institute of Environmental Health Sciences, NIH, USA, and University of Bergen, Norway
  • Illumina HM450 data are available for 417 cases with cleft lip/palate and 473 unrelated healthy controls. GWAS (Illumina Human610-Quad BeadChip) data are available for the 417 cases and their parents. For methylation analyses, DNA was obtained from peripheral whole blood samples taken at birth. Infants are 1:1 males and females and primarily White Norwegian.
  • The Norway Facial Clefts Study is a population-based case-control parent-triad study that explores the environmental and genetic causes of cleft lip and palate. 88% of babies with facial clefts born in Norway during 1996-2001 were enrolled into the study, together with 78% of a random sample of Norwegian live births during the same time period. Blood was collected from case babies and their biological parents, cheek swabs were collected from control babies and their parents, and heel-stick blood was retrieved for all case and control infants. Demographic, lifestyle and environmental exposure data are available for these participants.
  • For more details please contact Dr Jack Taylor (taylor@niehs.nih.gov) or Dr Allen Wilcox (wilcox@niehs.nih.gov)
  • OFCCR
  • Ontario Familial Colon Cancer Registry
  • PI: Dr Thomas Hudson
  • CoPIs: Dr Mathieu Lemire, Dr Brent Zanke, Dr Steven Gallinger.
  • Affiliation: Ontario Institute for Cancer Research, Canada
  • GWAS (Affymetrix GeneChip Human Mapping 500K Array, 100K Array and 10K Array) and Illumina HM450 data are available for 1997 unique individuals: 1008 cases with colorectal cancer and 989 healthy controls. Of these, 27 samples were run in duplicate, 36 in triplicate and 1 in quadruplicate. Cases have a mean age of 63 years (range 29-79) with approximately 58% females. Controls have a mean age of 64 years (range 31-79) with approximately 42% females. Participants are primarily White Canadian. DNA was obtained from peripheral blood lymphocytes .
  • GWAS and Illumina HM450 data are also available for 99 independent individuals (90 cases and 9 controls) for which DNA samples were extracted from lymphoblastoid cell lines.
  • This study was established to investigate the methylation profiles of peripheral blood lymphocytes in cases with colorectal cancer and healthy controls. These participants were obtained from the wider OFCCR containing over 1,800 participants with colorectal cancer, 2,500 of their relatives, and almost 1,600 individuals from the general population living in Ontario. A wealth of data regarding personal and family health/lifestyle history are available. The registry provides an infrastructure for future research on genetic forms of colorectal cancer and the new preventive and therapeutic strategies to combat it.
  • For more details please visit: [dbGAP phs000779.v1.p1]
  • PRECISESADS
  • Website: http://www.precisesads.eu/
  • PI: Prof. Marta Alarcón Riquelme
  • Affiliation: Pfizer - Universidad de Granada - Junta de Andalucía Centre for Genomics and Oncological Research (GENYO)
  • PRECISESADs in a EU project funded by IMI that aims to molecular reclassify systematic autoimmune diseases (SADs) and to find better diagnostic biomarkers.
  • For more details please contact Prof. Marta Alarcón Riquelme (marta.alarcon@genyo.es )
  • PREDO
  • Prediction and Prevention of Preeclampsia and Intrauterine Growth Restriction
  • PI: Prof. Katri Raikkönen, Prof Jari Lahti
  • Affiliation: University of Helsinki, Helsinki, Finland
  • Data were from the Prediction and Prevention of Preeclampsia and Intrauterine Growth Restriction (PREDO) Study, which is a longitudinal multicenter pregnancy cohort study of Finnish women and their singleton children born alive between 2006-2010. We recruited 1079 pregnant women, of whom 969 had one or more and 110 had none of the known risk factors for preeclampsia and intrauterine growth restriction. The recruitment took place in arrival order when these women attended the first ultrasound screening at 12+0-13+6 weeks+days of gestation in one of the ten hospital maternity clinics participating in the study.
  • For more details please contact Prof. Katri Raikkönen (katri.raikkonen@helsinki.fi) or Jari Lahti (jari.lahti@helsinki.fi)
  • PIAMA
  • Prevention and Incidence of Asthma and Mite Allergy
  • Website: http://piama.iras.uu.nl/index-en.php
  • PI: Prof Gerard H. Koppelman
  • CoPIs: Dr Erik Melen, Prof Dirkje Postma, Prof Magnus Wickman, Dr Chengjian Xu
  • Affiliation: University Medical Center Groningen, The Netherlands
  • GWAS (Illumina Human610-Quad BeadChip and HumanOmniExpress Beadechip) and Illumina HM450 data are available on 220 asthmatic cases with 431 controls at age 4-5 years and 153 independent cases with 318 controls at age approximately 8 years. Individuals are 1:1 males and females and are primarily White European (see below). All measures were taken using DNA obtained from peripheral whole blood.
  • These participants form part of the larger MeDALL project. This is a large case-control study established to investigate the mechanisms and determinants of allergic diseases in early childhood to adulthood. MeDALL is a collaborative project involving 4 European birth cohorts (BAMSE (Sweden); PIAMA (The Netherlands); EDEN (France); INMA (Spain)). Extensive information has been gathered regarding the development and history of allergic disease (asthma, eczema and rhinitis), as well as sensitization for food and aeroallergens. Demographic and environmental exposure data (including air pollution, nutrition, passive smoking) are also available. Serum measurements, proteomic data, and expression arrays are available for some of the participants.
  • For more details please contact Prof Gerard H. Koppelman (g.h.koppelman@umcg.nl)
  • Programming Research in Obesity, GRowth, Environment and Social Stressors
  • Website:http://projectreporter.nih.gov/project_info_description.cfm?aid=8538977&icde=18194133&ddparam=&ddvalue=&ddsub=&cr=7&csb=default&cs=ASC
  • PIs: Prof Robert Wright, Prof Andrea Baccarelli, Prof David Christiani
  • CoPIs: Dr Allan Just, Dr Xihong Lin, Dr Birgit Claus Henn
  • Affiliation: Harvard School of Public Health, USA
  • GWAS (Illumina HumanOmni1-Quad BeadChip) and Illumina HM450 data are available for 156 participants. These individuals are 56% male, have a mean age of 3 years (range 2-4) and are Mexican. DNA was obtained from cord blood for all 156 participants. A number of samples were run in duplicate along with a single inter- and intra-plate/chip control. A subset of 122 individuals also have Illumina HM450 data generated on DNA from umbilical vein and umbilical artery samples.
  • These participants form part of the wider PROGRESS cohort. This is a prospective pregnancy cohort with ongoing followup of mothers and children. Participants were recruited from prenatal clinics at Hospital de Ginecolog´a y Obstetricia in Mexico City between 2007 and 2011. A wealth of data have been gathered from the 2nd trimester of pregnancy and onwards. A wealth of demographic, environmental exposure, lifestyle, health and developmental data have been collected for both mothers and children.
  • For more details please contact Prof Andrea Baccarelli (abaccare@hsph.harvard.edu)
  • MinE
  • Project MinE
  • Website: https://www.projectmine.com/
  • PI: Prof Jan Veldink
  • Affiliation: UMC Utrecht, The Netherlands
  • This dataset is a subset of a larger dataset for which both WGS and methylation data is available. At the moment, 600 controls are (almost) ready for analysis. These subjects are from the Netherlands and were ascertained when lacking a neurological phenotype.
  • This data is part of ProjectMinE, a collaboration of (inter)national groups with the aim to WGS up to 22,500 individuals in order to investigate rare genetic variation contributing to the development of Amyotrophic Lateral Sclerosis (ALS)
  • For more details please contact Prof Jan Veldink (J.H.Veldink@umcutrecht.nl)
  • RADAR
  • PI: Marco Boks
  • Affiliation: UMC Utrecht, The Netherlands
  • This dataset is a subset of a larger dataset for which both WGS and methylation data is available. At the moment, 600 controls are (almost) ready for analysis. These subjects are from the Netherlands and were ascertained when lacking a neurological phenotype.
  • For more details please contact Marco Boks (mboks@gmail.com)
  • RS
  • The Rotterdam Study
  • Website: http://www.epib.nl/research/ergo.htm/
  • PI: Joyce van Meurs
  • Affiliation: Erasmus University Medical Center, Rotterdam, The Netherlands
  • The Rotterdam Study (RS) is a large prospective, population-based cohort study aimed at assessing the occurrence of and risk factors for chronic (cardiovascular, endocrine, hepatic, neurological, ophthalmic, psychiatric, dermatological, oncological, and respiratory) diseases in the elderly. The study comprises 14,926 subjects in total, living in the well-defined Ommoord district in the city of Rotterdam in the Netherlands. In 1989, the first cohort, Rotterdam Study-I (RS-I) comprised of 7,983 subjects with age 55 years or above. In 2000, the second cohort, Rotterdam Study-II (RS-II) was included with 3,011 subjects who had reached an age of 55 or over in 2000. In 2006, the third cohort, Rotterdam Study-III (RS-III) was further included with 3,932 subjects with age 45 years and above.
  • For more details please contact Dr. Joyce van Meurs (j.vanmeurs@erasmusmc.nl)
  • SYS
  • Saguenay Youth Study
  • http://www.saguenay-youth-study.org/
  • PI: Dr Zdenka Pausova
  • Co-PI: Dr Tomas Paus
  • Affiliation: The Hospital for Sick Children, Canada
  • GWAS (Illumina Human610-Quad BeadChip and Illumina HumanOmniExpress BeadChip) and Illumina HM450 data are available for 66 cases and 66 sex-matched controls. Cases are defined as those exposed to maternal smoking during in utero development. Individuals have a mean age of 16 years (range 12-19) and are approximately 1:1 males and females. All participants are from the FrenchCanadian founder population of Saguenay Lac Saint-Jean, Quebec (Canada). DNA was obtained from peripheral blood lymphocytes.
  • These participants form part of the wider SYS cohort containing over 1,000 individuals, parents and siblings living within the founder population of Saguenay Lac Saint-Jean. The focus of this study is to investigate gene-environment interactions influencing brain and behaviour and cardiovascular and metabolic health in adolescence. Prenatal exposure to maternal cigarette smoking represents the main environmental factor under investigation. A range of quantitative phenotypes of interest along with demographic and lifestyle factors have been measured for these individuals and their families. Lipidomics arrays are in progress in all adolescents (1,000) and their parents (950). Illumina HM450 arrays are in progress for parents of the case-control participants, as above.
  • For more details please contact Dr Zdenka Pausova (zdenka.pausova@sickkids.ca)
  • SCZ1&2
  • Schizophrenia Phase 1 and 2
  • PI: Prof Jonathan Mill
  • Affiliation: University of Exeter, Exeter, UK
  • The University College London case-control sample comprises a sample of unrelated ancestrally matched schizophrenia cases and controls from the United Kingdom. Case participants were recruited from UK NHS mental health services with a clinical ICD-10 diagnosis of schizophrenia. All case participants were interviewed with the Schedule for Affective Disorders and Schizophrenia-Lifetime Version (SADS-L) to confirm Research Diagnostic Criteria (RDC) diagnosis. A control sample screened for an absence of mental health problems was recruited. Each control subject was interviewed to confirm that they did not have a personal history of an RDC defined mental disorder or a family history of schizophrenia, bipolar disorder, or alcohol dependence.
  • For more details please contact Prof Jonathan Mill (j.mill@exeter.ac.uk)
  • SABRE
  • The Southall And Brent REvisited tri-ethnic population cohort
  • Website: http://www.sabrestudy.org/
  • PI: Prof Nish Chaturvedi
  • Co-PI: Dr Therese Tillin
  • Affiliation: UCL Institute of Cardiovascular Science, UK
  • Tri-ethnic population based study. 4858 Participants recruited in North and West London 1988-91 from primary care lists. Detailed cardiometabolic phenotyping, with clinical follow-up at 20 and 25 years. HES data to 2011 (new HES data to 2017 available in early 2018), GP record review to 2010.
  • Genetic data only available for a subset of approximately 3000 participants recruited to the Southall centre at baseline. The methylation data are available for 2003 participants who should also have genetic data
  • For more details please contact Prof Nish Chaturvedi (n.chaturvedi@ucl.ac.uk)
  • TwinsUK
  • UK Adult Twin Registry
  • Website: http://www.twinsuk.ac.uk/
  • PI: Prof Tim Spector
  • Affiliation: Kings College London, UK
  • The UK Adult Twin Registry (TwinsUK) was established in 1992 to recruit MZ and DZ same-sex twins and has been described previously79. The majority of participants are healthy female Caucasians (age range from 16 to 98 years old). There are more than 13,000 twin participants from all regions across the United Kingdom and many have multiple visits over the years.
  • For more details please contact Dr. Jordana Bell (jordana.bell@kcl.ac.uk)
  • Understanding Society
  • UK Household Longitudinal Study
  • Website: https://www.understandingsociety.ac.uk/
  • PIs: Prof Meena Kumari, Prof Leo Schalkwyk
  • Affiliation: University of Essex, Colchester, UK
  • The British Household Panel Survey (BHPS) began in 1991, and in 2010 was incorporated into the larger UK Household Longitudinal Study (UKHLS; also known as Understanding Society which is a longitudinal panel survey of 40,000 UK households from England, Scotland, Wales and Northern Ireland. Since 1991 annual interviews have collected sociodemographic information, and in 2011-12, biomedical measures and blood samples for BHPS participants were collected at a nurse visit in the participant's home. Respondents were eligible to give a blood sample if they had taken part in the previous main interview in English, were aged 16+, lived in England, Wales or Scotland, were not pregnant, and met other conditions detailed in the user guide.
  • For more details please contact Prof Meena Kumari (mkumari@essex.ac.uk)
  • RAINE
  • The Western Australian Pregnancy Cohort Study
  • Website: https://www.rainestudy.org.au/
  • PIs: Rae-Chi Huang, Craig Pennell
  • Affiliation: The University of Western Australia, Australia
  • The Western Australian Pregnancy Cohort (Raine) Study is a prospectively recruited longitudinal pregnancy cohort that recruited 2900 mothers between 1989 and 1991 from Western Australia's major perinatal centre, King Edward Memorial Hospital, and nearby private practices.
  • For more details please contact Prof Craig Pennell (craig.pennell@uwa.edu.au)