Cohorts

  • Accessible Resource for Integrated Epigenomics Studies
  • www.ariesepigenomics.org.uk
  • PIs: Prof George Davey Smith and Prof Caroline Relton
  • CoIs: 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
  • CoIs: Mr Sander van der Laan, Mr Marten Siemelink
  • 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 N1,500 participants were genotyped for common SNPs (Affymetrix Genome-Wide Human SNP Array 5.0, N=572; and Affymetrix Axiom Genome-Wide CEU 1 Array, N1,000) and exome SNPs (Illumina HumanExome BeadChip v1.2, N1,500).
  • For more details please contact Mr Marten Siemelink (m.a.siemelink@umcutrecht.nl)
  • Biologics in Rheumatoid Arthritis Genetics and Genomics Study Syndicate
  • www.medicine.manchester.ac.uk/musculoskeletal/research/arc/genetics/pharmacogenetics/braggss/
  • PI: Prof Anne Barton
  • CoI: 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)
  • Brisbane Systems Genetics Study
  • www.qtwin.org.au (Queensland Twin Registry)
  • PI: Dr Allan McRae
  • CoIs: 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)
  • Cohort on Diabetes and Atherosclerosis Maastricht
  • PIs: Dr Marleen van Greevenbroek and Prof Coen Stehouwer
  • CoIs: Dr Casper Schalkwijk, Dr Carla van der Kallen.
  • Affiliation: Maastricht University, The Netherlands
  • GWAS (Illumina HumanOmniExpress BeadChip) and Illumina HM450 data are available on 188 participants with a moderately increased risk to develop type 2 diabetes and/or cardiovascular disease. Participants are primarily White Dutch, with a mean age of 65 years (range 48-79) and approximately 55% are male. DNA was derived from peripheral whole blood.
  • These participants were drawn from the larger CODAM study cohort. This cohort consists of over 500 individuals (301 with normal glucose tolerance; 127 with impaired glucose metabolism, 146 with Type 2 diabetes) who were selected from a large, population-based cohort on the basis of a moderately increased risk to develop type 2 diabetes and/or cardiovascular disease (see van Greevenbroek et al. Int J Cardiol. 2012;154:158-62). DNA methylation data has been measured in samples collected from participants at the 1st followup evaluation of CODAM (~7 years from recruitment). A range of demographic, health and lifestyle data, serum biomarkers and clinical measures are available for these participants. GWAS data are available for all CODAM participants.
  • For more details please contact Dr Marleen van Greevenbroek (m.vangreevenbroek@maastrichtuniversity.nl)
  • Estonian Biobank
  • Estonian Biobank
  • http://www.biobank.ee
  • PI: Prof Andres Metspalu
  • CoIs: 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
  • epic.iarc.fr
  • PI: Prof Paolo Vineis
  • CoIs: 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)
  • French-Canadian family study on Factor V Leiden (F5L) thrombophilia
  • PI: Prof. France Gagnon
  • CoI: 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)
  • INMA
  • Infancia y Medio Ambiente Project
  • http://www.proyectoinma.org/
  • PI: Dr Jordi Sunyer
  • CoIs: 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)
  • Isle of Wight - 3rd Generation Study
  • www.davidhideallergyresearch.co.uk/studies.html
  • Investigators: 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)
  • KORA
  • Cooperative Health Research in the Augsburg Region ("Kooperative Gesundheitsforschung in der Region Augsburg")
  • http://www.helmholtz-muenchen.de/kora
  • PIs: Dr Melanie Waldenberger and Dr Christian Gieger
  • CoIs: Annette Peters, Thomas Meitinger, Thomas Illig, Konstantin Strauch, Sonja Zeilinger, Eva Reischl, Harald Grallert, Simone Wahl
  • Affiliation: Helmholtz Zentrum Mnchen, 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)
  • Lothian Birth Cohorts of 1921 and 1936 (LBC1921 and LBC1936)
  • www.lothianbirthcohort.ed.ac.uk
  • PI: Professor Ian Deary
  • CoIs: Professor John Starr, Professor 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. 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
  • CoIs: 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 (see Oudot-Mellakh et al. Br J Haematol. 2012;157:230-9). 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)
  • MeDALL
  • Mechanisms of the Development of ALLergy
  • http://medall-fp7.eu/
  • PI: Prof. Gerard H. Koppelman
  • CoIs: 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. INMA is participating as a separate group in GoDMC.
  • For more details please contact Prof. Gerard H. Koppelman (g.h.koppelman@umcg.nl)
  • Methyl-Donors and EpiGenetics in The Gambia
  • www.ing.mrc.ac.uk/research_areas/nutritional_genetics__environ/dietary_methyl_donors_and_epig1.aspx, www.ing.mrc.ac.uk/research_areas/nutritional_modulation_of_immu/early_nutrition_and_immune_dev.aspx
  • 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)
  • CoIs: 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 Branwen Hennig (branwen.hennig@lshtm.ac.uk) or Dr Matt Silver (matt.silver@lshtm.ac.uk)
  • MRC - NSHD
  • Medical Research Council - National Survey of Health and Development
  • 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)
  • Multi Case-Control Study Spain, working group on water contaminants
  • http://www.mccspain.org/
  • PIs: Dr Cristina Villanueva (methylation data), Dr Manolis Kogevinas and Dr Marina Pollan (MCC coordinators)
  • CoIs: 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)
  • Norway Facial Clefts Study
  • https://www.niehs.nih.gov/research/atniehs/labs/epi/studies/ncl/investigators/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)
  • NTR
  • Netherlands Twin Register
  • http://www.tweelingenregister.org/en/
  • PIs: Prof Dorret Boomsma
  • CoIs: Dr Jouke Jan Hottenga, Dr Gonneke Willemsen, Ms 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 White Dutch, 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 hereditary predisposition 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)
  • OFCCR
  • Ontario Familial Colon Cancer Registry
  • https://www.cancercare.on.ca/research/patientparticipation/cancerregistries/
  • http://www.collectionscanada.gc.ca/webarchives/20071127000250/ & http://www.phac-aspc.gc.ca/publicat/cdic-mcc/21-2/f_e.html
  • PI: Dr Thomas Hudson
  • CoIs: 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 contact Dr Mathieu Lemire (mathieu.lemire@oicr.on.ca)
  • Programming Research in Obesity, GRowth, Environment and Social Stressors
  • PIs: Prof Robert Wright, Prof Andrea Baccarelli, Prof David Christiani
  • CoIs: 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. More information regarding this study can be found at http://projectreporter.nih.gov/project_info_description.cfm?aid=8538977&icde=18194133&ddparam=&ddvalue=&ddsub=&cr=7&csb=default&cs=ASC
  • For more details please contact Prof Andrea Baccarelli (abaccare@hsph.harvard.edu)
  • 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)