Please note: this study has been archived because participation is no longer possible or because it has been completed but is still temporarily available for viewing.
A reference population for research into genetic variation, lifestyle and environmental exposures in relation to traits and diseases
In the year 2000 a large study was initiated among the inhabitans of the municipality of Nijmegen by several departments of the Radboud university medical center (at that time the departments Epidemiology, Biostatistics and HTA, Clinical Chemistry, and endocrinology, at the time part of the Radboud University Nijmegen Mediacal Centre) and in collaboration with the municipality of Nijmegen and the community health service of Nijmegen.
The central research question was: "What is the prevalence of certain risk factors, chronic diseases and genetic variations in the general population?". The goal of the sudy was to obtain a universal reference population that can be efficiently used in a variety of medical studies.
In the meantime, the observational study has been closed. On this page you can read the latest developments.
Researcher
About NBS
The NBS was initiated by the Department for Health Evidence, the Department of Laboratory Medicine and the Department of Internal Medicine of the Radboud university medical center (RUMC). The Department of Human Genetics of the RUMC has joined the NBS project team in a later stage. Also, the municipality Nijmegen and the community health service Nijmegen were involved as collaborators in NBS1. The NBS is financed by the departments and agencies mentioned above and a grant from the so called ‘Vrije Beleidsruimte’ of the RUMC.
The NBS consists of a number of phases. Because too extensive measurements have a negative impact on participant response, we chose a phased model in which people in first instance only received a limited questionnaire and an invitation to donate a blood sample (NBS1). In following phases, they received an invitation for an extensive examination and additional questionnaires (NBS2-5). In phase 2-5 we joined forces with other departments within RUMC and the department of Human Nutrition of Wageningen University and Research Centre that were interested in specific data.
More information? Read the detailed description of the NBS in the cohort profile.
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In collaboration with the municipality of Nijmegen and the community health service Nijmegen the first phase of the NBS was conducted between 2001 and 2003. First, the logistic set-up of the NBS1 was tested in a pilot study that was performed between November 2001 and February 2002. A random sample of names and addresses of 650 males and females of 18 years and older was obtained via the registers of the municipality Nijmegen. All have received a questionnaire (QN) with questions related to lifestyle, health, disease, and medication use; 342 QNS were filled out (response 53%). Of those people that have returned a completed questionnaire, 262 (77%) have also donated a sample of blood. The procedure of blood sampling was slightly altered after the pilot study; the number of options with regard to time of donation were increased and the number of places for blood donation were decreased.
Then, a random sample from the register of the population of Nijmegen, stratified on sex and 5-year age groups, was taken on July 1 2002. All men and women over 18 years, not living in institutions and rest homes, and able to fill out a Dutch questionnaire, were eligible. In total 22,451 inhabitants of the municipality of Nijmegen received an invitation to fill out a postal questionnaire on, e.g., lifestyle and medical history, and to donate an 8.5 ml blood sample in a serum separator tube and a 10 ml EDTA blood sample. 96% was of Dutch nationality and 79% was born in the Netherlands.The age distribution is depicted in Table 1.
Age group
Number (%)
18 – 29 years
3370 (15.0%)
30 – 39 years
3438 (15.3%)
40 – 49 years
3242 (14.4%)
50 – 59 years
3196 (14.2%)
60 – 69 years
3203 (14.3%)
70 – 79 years
3072 (13.7%)
≥ 80 years
2930 (13.1%)
Total
22451
Table 1: Age distribution age and sex stratified sample, July 1 2002
The response to the questionnaire was 42% (N=9350). 69% (N=6468) of the responders donated blood samples (see Figure 1). For detailed information on the questions included in the NBS1 questionnaire see section ‘Researcher data'. The serum and plasma samples have been stored in the Radboud Biobank. A number of measurements have been performed in these samples and DNA has been isolated.
Figure 1: Response to questionnaire (QN) and blood donation. -
Not all important health related questions could be answered using the data collected in NBS1. Therefore, in October/November 2005 we have approached all the NBS1 participants who had given permission for further research and asked them to fill out an additional questionnaire (NBS2 QN). This QN contained questions about a number of topics, including health and disease, pregnancy, mood and behaviour, daily activities, and memory. In addition, a part of these participants was asked to undergo supplementary examinations in the RUNMC, dependent on age, sex and questionnaire information. This supplementary examination consisted of, a.o., a food frequency questionnaire (FFQ), blood pressure measurements, measurement of length and weight, donation of a number of (fasting) blood samples and a urine sample, non-invasive measurements of atherosclerosis, cognitive tests, and a gait analysis.
Several departments of the RUNMC were involved in the second phase of the NBS: General Internal Medicine, Endocrinology, Geriatrics, Neurology, Nephrology, Psychiatry, Rheumatology and Vascular Surgery. In addition, collaboration with the department of Human Nutrition of Wageningen University and Research Centre took place. All these departments have financially invested in NBS2.
Below you can find an overview of the NBS2 per age category (based on age at November 1 2005) and the number of participants. The questionnaire for people below 70 years old, can be found here. The questionnaire for people above 70 years old, can be found here.Age below 50
2926 NBS2 QNS were sent out, of which 1884 (64%) were completed. Between the years 2008 and 2010 people below the age of 50 were invited to fill out a food frequency questionnaire and to donate a blood and urine sample. This part of the study has been named NBS3.Age 50 to 70
In this age group 2807 QNS were sent out; the response was 75% (2114 QNS). In addition, 1491 people participated in an extensive study from the department of Internal Medicine of the RUNMC: the NIMA study. For this study, participants visited the RUNMC once for donation of a blood sample, measurement of length, weight, blood pressure, and waist and hip circumference. During this same visit four different non-invasive measurements of atherosclerosis were performed, i.e. intima media thickness (IMT), endothelium function using flow-mediated dilatation (FMD), ankle-brachial index (ABI) and pulse-wave velocity (PWV). A large part of these participants has also filled out a FFQ (1168).
In the meantime, a pilot for a follow-up study in this population has been performed: NBS-NIMA2. The pilot study, executed in 2011, included repeated measurements of NIMA (including FMD, IMT, the presence and thickness of plaques in the carotid arteries, ABI at rest and after exercise, PWV, and PWA), measurements of traditional and new clinical and biochemical measurements, including a questionnaire on life style habits and medical history, and evaluation of clinical endpoints. Venous blood was drawn and a urine sample was collected. The measurement protocol was exactly the same as in the NBS-NIMA 1 study. Hundred NBS2-NIMA1 participants were invited for the pilot; 95 individuals participated.Age over 70
Of the 2253 NBS2 QNS that were sent out in this age category, 1596 have been filled in: a response of 71%. Also, 150 FFQs were sent out, of which 77 were filled in (response 51%). A selection of 300 people was approached for additional examinations by the department of Geriatrics, including cognitive tests, quantitative gait analysis, functional mobility tests and measurement of hand grip strength; one hundred people (33%) have participated. -
NBS3
The collection of additional data in people below the age of 50 has been carried out as NBS3 between 2008 and 2010. NBS3 participants filled out a food frequency questionnaire. Fasting blood samples were obtained for determination of thyroid function, kidney function and CRP. Also urine was collected. In total, 2011 people were invited; 1053 sent in a food frequency questionnaire and 474 participants donated blood and urine.
NBS4
The questionnaire data of NBS1 and NBS2 have been used to answer a variety of research questions. To increase the compatibility and similarity in available data between the NBS and patient groups (cancer cases) that were frequently used for our research purposes, the NBS participants who had given consent for further research and were still alive were again contacted in 2008 and invited to fill out an additional questionnaire (NBS4). In total, 8109 people were approached and 5613 (69%) completed the questionnaire (see section ‘Researcher data’ for detailed information on included questions).
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NBS5 was executed in 2012. In total, 7,567 persons were invited, 3,833 questionnaires were filled out and returned (51%).
Organization
The NBS is initiated by several departments of the RUMC in collaboration with the municipality Nijmegen and the community health service of the region Nijmegen. The Department for Health Evidence is coordinating the study. read moreOrganization
The NBS is initiated by several departments of the RUMC in collaboration with the municipality Nijmegen and the community health service of the region Nijmegen. The Department for Health Evidence is coordinating the study.Project management
Prof. L.A. Kiemeney PhD, Health Evidence / UrologyProf. A.L. Verbeek PhD, Health Evidence
Prof. D.W. Swinkels PhD, Laboratory medicine
Prof. B. Franke PhD, Genetics
Coordinators
T.E. Galesloot PhD, Health Evidence (09/2012 - heden)S.H. Vermeulen PhD, Health Evidence / Antropogenetics (01/2009 - 09/2012)
M. de Visser PhD, Health Evidence / Endocrine diseases (1/2011 - 8/2011)
F. de Vegt PhD, Health Evidence (10/2000 - 01/2009)
E.A. Roovers PhD, Health Evidence (01/2005 - 04/2007)
Others involved
Data managerW. Lemmens, Health Evidence
Research assistant
U. Oldenhof, Health Evidence
Technicians
S.M. Klaver, Laboratory medicine
R.R. Makkinje, Genetics
S. van der Marel, Genetics
J. van Steenoven, Laboratory medicine
Others involed NBS1
L. Deurloo MSc, Municipality Nijmegen
K. Goderie MSc, Municipality Nijmegen
W. Vegt MSc, Municipality Nijmegen
P. Oude Vrielink PhD, Community health service Nijmegen
Participating researchers NBS2
Prof. J. de Graaf PhD, Internal medicine (mede-coördinator NBS-2 50-70 jaar)
Prof. A.F.H. Stalenhoef PhD, Internal medicine
Prof. A.R.M.M. Hermus PhD, Endocrine diseases
Prof. M.G.M. Olde Rikkert PhD, Geriatrics
P.E. Vos PhD, Neurology
Prof. J.F.M. Wetzels PhD, Kidney diseases
Prof. dr. J.K. Buitelaar PhD, Psychiatry
J.G.E. Janzing PhD, Psychiatry
Prof. J.A.M. Kremer PhD, Obstetrics & Gynecology
N. Roeleveld PhD, Health Evidence
Prof. P.L.C.M. van Riel PhD, Rheumatology
Prof. J.D. Blankensteijn PhD, Vascular surgery
Prof. P. van ’t Veer PhD, Human food, Wageningen Universiteit
NBS-data for scientific research usage
The NBS-date are, both nationally and internationally, still widely requested.-
View the detailed description of the NBS for an overview of the collected data. Use the contact details above to request the data.
see publication -
View the questionnaires used to collect data.
read more
Overview questionnaires
- Questionnaire NBS 1
- Questionnaire NBS 2 for participants under 70 years old
- Questionnaire NBS 2 for participants above 70 years
- Questionnaire NBS 4
- Questionnaire NBS 5
Scientific publications
The Nijmegen Biomedical Study has resulted in a large number of scientific peer reviewed publications. Links to these publications can be found in this section.
2018
- Bralten J, van Hulzen KJ, Martens MB, Galesloot TE, Arias Vasquez A, Kiemeney LA, et al. Autism spectrum disorders and autistic traits share genetics and biology. Molecular psychiatry. 2018;23(5):1205-12.
- Corominas J, Klein M, Zayats T, Rivero O, Ziegler GC, Pauper M, et al. Identification of ADHD risk genes in extended pedigrees by combining linkage analysis and whole-exome sequencing. Molecular psychiatry. 2018.
- Dixon-Suen SC, Nagle CM, Thrift AP, Pharoah PDP, Ewing A, Pearce CL, et al. Adult height is associated with increased risk of ovarian cancer: a Mendelian randomisation study. British journal of cancer. 2018;118(8):1123-9.
- Li Y, Xiao X, Han Y, Gorlova O, Qian D, Leighl N, et al. Genome-wide interaction study of smoking behavior and non-small cell lung cancer risk in Caucasian population. Carcinogenesis. 2018;39(3):336-46.
- Liu G, Mukherjee B, Lee S, Lee AW, Wu AH, Bandera EV, et al. Robust Tests for Additive Gene-Environment Interaction in Case-Control Studies Using Gene-Environment Independence. Am J Epidemiol. 2018;187(2):366-77.
- Marees AT, Hammerschlag AR, Bastarache L, de Kluiver H, Vorspan F, van den Brink W, et al. Exploring the role of low-frequency and rare exonic variants in alcohol and tobacco use. Drug Alcohol Depend. 2018;188:94-101.
- Rafnar T, Sigurjonsdottir GR, Stacey SN, Halldorsson G, Sulem P, Pardo LM, et al. Association of BRCA2 K3326* With Small Cell Lung Cancer and Squamous Cell Cancer of the Skin. Journal of the National Cancer Institute. 2018.
- Schellevis RL, van Dijk EHC, Breukink MB, Altay L, Bakker B, Koeleman BPC, et al. Role of the Complement System in Chronic Central Serous Chorioretinopathy: A Genome-Wide Association Study. JAMA Ophthalmol. 2018.
- Turcot V, Lu Y, Highland HM, Schurmann C, Justice AE, Fine RS, et al. Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity. Nature genetics. 2018;50(1):26-41.
2017
- Acuna-Hidalgo R, Sengul H, Steehouwer M, van de Vorst M, Vermeulen SH, Kiemeney L, et al. Ultra-sensitive Sequencing Identifies High Prevalence of Clonal Hematopoiesis-Associated Mutations throughout Adult Life. American journal of human genetics. 2017;101(1):50-64.
- Bjornsson E, Helgason H, Halldorsson G, Helgadottir A, Gylfason A, Kehr B,et al. A rare splice donor mutation in the haptoglobin gene associates with blood lipid levels and coronary artery disease. Human Molecular Genetics. 2017.
- Carreras-Torres R, Johansson M, Haycock PC, Wade KH, Relton CL, Martin RM, et al. Obesity, metabolic factors and risk of different histological types of lung cancer: A Mendelian randomization study. PloS one. 2017;12(6):e0177875.
- Deckert J, Weber H, Villmann C, Lonsdorf TB, Richter J, Andreatta M, et al. GLRB allelic variation associated with agoraphobic cognitions, increased startle response and fear network activation: a potential neurogenetic pathway to panic disorder. Molecular Psychiatry. 2017.
- Galesloot TE, Vermeulen SH, Swinkels DW, de Vegt F, Franke B, den Heijer M et al.
Cohort Profile: The Nijmegen Biomedical Study (NBS). International Journal of Epidemiology. 2017. - Gudmundsson J, Thorleifsson G, Sigurdsson JK, Stefansdottir L, Jonasson JG, Gudjonsson SA, et al. A genome-wide association study yields five novel thyroid cancer risk loci. Nature communications. 2017;8:14517.
- Telomeres Mendelian Randomization Collaboration, Haycock PC, Burgess S, Nounu A, Zheng J, Okoli GN, Bowden J, et al. Association Between Telomere Length and Risk of Cancer and Non-Neoplastic Diseases: A Mendelian Randomization Study. JAMA Oncology. 2017.
- Heilmann-Heimbach S, Herold C, Hochfeld LM, Hillmer AM, Nyholt DR, Hecker J, et al. Meta-analysis identifies novel risk loci and yields systematic insights into the biology of male-pattern baldness. Nature Communications. 2017;8:14694.
- van 't Hof FN, Vaucher J, Holmes MV, de Wilde A, Baas AF, Blankensteijn JD, et al. Genetic variants associated with type 2 diabetes and adiposity and risk of intracranial and abdominal aortic aneurysms. European Journal of Human Genetics. 2017.
- Jones GT, Tromp G, Kuivaniemi H, Gretarsdottir S, Baas AF, Giusti B, et al. Meta-Analysis of Genome-Wide Association Studies for Abdominal Aortic Aneurysm Identifies Four New Disease-Specific Risk Loci. Circulation Research. 2017;120(2):341-353.
- Joshi PK, Pirastu N, Kentistou KA, Fischer K, Hofer E, Schraut KE, et al. Genome-wide meta-analysis associates HLA-DQA1/DRB1 and LPA and lifestyle factors with human longevity. Nature communications. 2017;8(1):910.
- Kar SP, Adler E, Tyrer J, Hazelett D, Anton-Culver H, Bandera EV, et al. Enrichment of putative PAX8 target genes at serous epithelial ovarian cancer susceptibility loci. British Journal of Cancer. 2017;116(4):524-535.
- Kristjansson RP, Benonisdottir S, Oddsson A, Galesloot TE, Thorleifsson G, Aben KK, et al. Sequence variant at 4q25 near PITX2 associates with appendicitis. Sci Rep. 2017;7(1):3119.
- Marouli E, Graff M, Medina-Gomez C, Lo KS, Wood AR, Kjaer TR, et al. Rare and low-frequency coding variants alter human adult height. Nature. 2017;542(7640):186-190.
- McKay JD, Hung RJ, Han Y, Zong X, Carreras-Torres R, Christiani DC, et al. Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes. Nature genetics. 2017;49(7):1126-32.
- Minlikeeva AN, Freudenheim JL, Cannioto RA, Szender JB, Eng KH, Modugno F, et al. History of hypertension, heart disease, and diabetes and ovarian cancer patient survival: evidence from the ovarian cancer association consortium. Cancer Causes Control. 2017;28(5):469-486.
- Minlikeeva AN, Freudenheim JL, Eng KH, Cannioto RA, Friel G, Szender JB, et al. History of Comorbidities and Survival of Ovarian Cancer Patients, Results from the Ovarian Cancer Association Consortium. Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology. 2017;26(9):1470-3.
- Phelan CM, Kuchenbaecker KB, Tyrer JP, Kar SP, Lawrenson K, Winham SJ, et al. Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer. Nature genetics. 2017;49(5):680-91.
- Rasmussen CB, Kjaer SK, Albieri V, Bandera EV, Doherty JA, Høgdall E, et al. Pelvic Inflammatory Disease and the Risk of Ovarian Cancer and Borderline Ovarian Tumors: A Pooled Analysis of 13 Case-Control Studies. American Journal of Epidemiology. 2017;185(1):8-20.
- Selinski S, Blaszkewicz M, Ickstadt K, Gerullis H, Otto T, Roth E, et al. Identification and replication of the interplay of four genetic high-risk variants for urinary bladder cancer. Carcinogenesis. 2017;38(12):1167-79.
- Styrkarsdottir U, Helgason H, Sigurdsson A, Norddahl GL, Agustsdottir AB, Reynard LN, et al. Whole-genome sequencing identifies rare genotypes in COMP and CHADL associated with high risk of hip osteoarthritis. Nature genetics. 2017;49(5):801-5.
- Telomeres Mendelian Randomization C, Haycock PC, Burgess S, Nounu A, Zheng J, Okoli GN, et al. Association Between Telomere Length and Risk of Cancer and Non-Neoplastic Diseases: A Mendelian Randomization Study. JAMA Oncol. 2017;3(5):636-51.
- van 't Hof FN, Vaucher J, Holmes MV, de Wilde A, Baas AF, Blankensteijn JD, et al. Genetic variants associated with type 2 diabetes and adiposity and risk of intracranial and abdominal aortic aneurysms. Eur J Hum Genet. 2017;25(6):758-62.
- Wang T, Moon JY, Wu Y, Amos CI, Hung RJ, Tardon A, et al. Pleiotropy of genetic variants on obesity and smoking phenotypes: Results from the Oncoarray Project of The International Lung Cancer Consortium. PloS one. 2017;12(9):e0185660.
2016
- Bertelsen B, Stefánsson H, Riff Jensen L, Melchior L, Mol Debes N, Groth C, et al. Association of AADAC Deletion and Gilles de la Tourette Syndrome in a Large European Cohort. Biological Psychiatry. 2016;79(5):383-91.
- van Beugen S, Maas J, van Laarhoven AI, Galesloot TE, Rinck M, Becker ES, et al. Implicit stigmatization-related biases in individuals with skin conditions and their significant others. Health Psychology. 2016;35(8):861-5.
- Chen LS, Baker T, Hung RJ, Horton A, Culverhouse R, Hartz S, et al. Genetic Risk Can Be Decreased: Quitting Smoking Decreases and Delays Lung Cancer for Smokers With High and Low CHRNA5 Risk Genotypes - A Meta-Analysis. EBioMedicine. 2016;11:219-226.
- Cuellar-Partida G, Lu Y, Dixon SC, Australian Ovarian Cancer Study, Fasching PA, Hein A, et al. Assessing the genetic architecture of epithelial ovarian cancer histological subtypes. Human Genetics. 2016;135(7):741-56.
- Dixon SC, Nagle CM, Thrift AP, Pharoah PD, Pearce CL, Zheng W. Adult body mass index and risk of ovarian cancer by subtype: a Mendelian randomization study. International Journal of Epidemiology. 2016;45(3):884-95.
- Figueroa JD, Middlebrooks CD, Banday AR, Ye Y, Garcia-Closas M, Chatterjee N, et al. Identification of a novel susceptibility locus at 13q34 and refinement of the 20p12.2 region as a multi-signal locus associated with bladder cancer risk in individuals of European ancestry. Human Molecular Genetics. 2016;25(6):1203-14.
- Galesloot TE, Vermeulen SH, Swinkels DW, de Vegt F, Franke B, den Heijer M, de Graaf J, et al. Cohort profile: The Nijmegen Biomedical Study (NBS). International journey of Epidemiology, 2016;1-12.
- Galesloot TE, Verweij N, Traglia M, Barbieri C, van Dijk F, Geurts-Moespot AJ, et al. Meta-GWAS and Meta-Analysis of Exome Array Studies Do Not Reveal Genetic Determinants of Serum Hepcidin. PLoS One. 2016;11(11):e0166628.
- Hampras SS, Sucheston-Campbell LE, Cannioto R, Chang-Claude J, Modugno F, Dörk T, et al. Assessment of variation in immunosuppressive pathway genes reveals TGFBR2 to be associated with risk of clear cell ovarian cancer. Oncotarget. 2016;7(43):69097-69110.
- Helgadottir A, Gretarsdottir S, Thorleifsson G, Hjartarson E, Sigurdsson A, Magnusdottir A, et al. Variants with large effects on blood lipids and the role of cholesterol and triglycerides in coronary disease. Nature Genetics. 2016;48(6):634-9.
- van 't Hof FN, Ruigrok YM, Lee CH, Ripke S, Anderson G, de Andrade M, et al. Shared Genetic Risk Factors of Intracranial, Abdominal, and Thoracic Aneurysms. Journal of the American Heart Association. 2016;5(7).
- Ovarian Cancer Association Consortium, Breast Cancer Association Consortium, and Consortium of Modifiers of BRCA1 and BRCA2, Hollestelle A, van der Baan FH, Berchuck A, et al. No clinical utility of KRAS variant rs61764370 for ovarian or breast cancer. Gynecologic Oncology. 2016;141(2):386-401.
- Jim HS, Lin HY, Tyrer JP, Lawrenson K, Dennis J, Chornokur G, et al. Common Genetic Variation in Circadian Rhythm Genes and Risk of Epithelial Ovarian Cancer (EOC). Journal of Genetics and Genome Research. 2015;2(2).
- Kar SP, Beesley J, Amin Al Olama A, Michailidou K, Tyrer J, Kote-Jarai Z, et al. Genome-Wide Meta-Analyses of Breast, Ovarian, and Prostate Cancer Association Studies Identify Multiple New Susceptibility Loci Shared by at Least Two Cancer Types. Cancer Discovery. 2016;6(9):1052-67.
- Klein M, Berger S, Hoogman M, Dammers J, Makkinje R, Heister AJ, et al. Meta-analysis of the DRD5 VNTR in persistent ADHD. European Neuropsychopharmacology. 2016;26(9):1527-32.
- van der Laan SW, Fall T, Soumaré A, Teumer A, Sedaghat S, Baumert J, et al. Cystatin C and Cardiovascular Disease: A Mendelian Randomization Study. Journal of the American College of Cardiology. 2016;68(9):934-45.
- Lawrenson K, Kar S, McCue K, Kuchenbaeker K, Michailidou K, Tyrer J, et al. Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus. Nature Communications. 2016;7:12675.
- Lee AW, Templeman C, Stram DA, Beesley J, Tyrer J, Berchuck A, et al. Evidence of a genetic link between endometriosis and ovarian cancer. Fertility and Sterility. 2016;105(1):35-43.
- Meeks HD, Song H, Michailidou K, Bolla MK, Dennis J, Wang Q, et al. BRCA2 Polymorphic Stop Codon K3326X and the Risk of Breast, Prostate, and Ovarian Cancers. Journal of the National Cancer Institute. 2015;108(2).
- Nioi P, Sigurdsson A, Thorleifsson G, Helgason H, Agustsdottir AB, Norddahl GL, et al. Variant ASGR1 Associated with a Reduced Risk of Coronary Artery Disease. New England Journal of Medicine. 2016;374(22):2131-41.
- Okbay A, Beauchamp JP, Fontana MA, Lee JJ, Pers TH, Rietveld CA, et al. Genome-wide association study identifies 74 loci associated with educational attainment. Nature. 2016;533(7604):539-42.
- Ong JS, Cuellar-Partida G, Lu Y; Australian Ovarian Cancer Study, Fasching PA, Hein A, et al. Association of vitamin D levels and risk of ovarian cancer: a Mendelian randomization study. International Journal of Epidemiology. 2016;45(5):1619-1630.
- Permuth JB, Reid B, Earp M, Chen YA, Monteiro AN, Chen Z. Inherited variants affecting RNA editing may contribute to ovarian cancer susceptibility: results from a large-scale collaboration. Oncotarget. 2016;7(45):72381-72394.
- Præstegaard C, Kjaer SK, Nielsen TS, Jensen SM, Webb PM, Nagle CM, et al. The association between socioeconomic status and tumour stage at diagnosis of ovarian cancer: A pooled analysis of 18 case-control studies. Cancer Epidemiology. 2016;41:71-9.
- Southey MC, Goldgar DE, Winqvist R, Pylkäs K, Couch F, Tischkowitz M, et al. PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS. Journal of Medical Genetics. 2016;53(12):800-811.
- Stacey SN, Kehr B, Gudmundsson J, Zink F, Jonasdottir A, Gudjonsson SA, et al. Insertion of an SVA-E retrotransposon into the CASP8 gene is associated with protection against prostate cancer. Human Molecular Genetics. 2016;25(5):1008-18.
- Styrkarsdottir U, Thorleifsson G, Gudjonsson SA, Sigurdsson A, Center JR, Lee SH, et al. Sequence variants in the PTCH1 gene associate with spine bone mineral density and osteoporotic fractures. Nature Communications. 2016;7:10129.
- Thorgeirsson TE, Steinberg S, Reginsson GW, Bjornsdottir G, Rafnar T, Jonsdottir I, et al. A rare missense mutation in CHRNA4 associates with smoking behavior and its consequences. Molecular Psychiatry. 2016;21(5):594-600.
- Usset JL, Raghavan R, Tyrer JP, McGuire V, Sieh W, Webb P, et al. Assessment of Multifactor Gene-Environment Interactions and Ovarian Cancer Risk: Candidate Genes, Obesity, and Hormone-Related Risk Factors. Cancer Epidemiology Biomarkers Prev. 2016;25(5):780-90.
- van der Vorm LN, van Meijel LJ, Lips J, Galesloot TE, Laarakkers CM, Swinkels DW. Underestimation of hepcidin concentration by time of flight mass spectrometry and competitive ELISA in hepcidin p.Gly71Asp heterozygotes. Clin Chem Lab Med. 2016;54(5):e173-6.
- Zayats T, Jacobsen KK, Kleppe R, Jacob CP, Kittel-Schneider S, Ribasés M, et al. Exome chip analyses in adult attention deficit hyperactivity disorder. Translational Psychiatry. 2016;6(10):e923.
2015
- Bossini-Castillo L, de Kovel C, Kallberg H, van 't Slot R, Italiaander A, Coenen M, et al. A genome-wide association study of rheumatoid arthritis without antibodies against citrullinated peptides. Annals of the rheumatic diseases. 2015;74(3):e15.
- Cremers RG, Galesloot TE, Aben KK, van Oort IM, Vasen HF, Vermeulen SH, et al. Known susceptibility SNPs for sporadic prostate cancer show a similar association with "hereditary" prostate cancer. The Prostate. 2015;75(5):474-83.
- Diogo D, Bastarache L, Liao KP, Graham RR, Fulton RS, Greenberg JD, et al. TYK2 protein-coding variants protect against rheumatoid arthritis and autoimmunity, with no evidence of major pleiotropic effects on non-autoimmune complex traits. PLoS One. 2015;10(4):e0122271.
- Galesloot TE, Janss LL, Burgess S, Kiemeney LA, den Heijer M, de Graaf J, et al. Iron and hepcidin as risk factors in atherosclerosis: what do the genes say? BMC Genetics 2015;16:79.
- Gretarsdottir S, Helgason H, Helgadottir A, Sigurdsson A, Thorleifsson G, Magnusdottir A, et al. A Splice Region Variant in LDLR Lowers Non-high Density Lipoprotein Cholesterol and Protects against Coronary Artery Disease. PLoS Genetics.;11(9):e1005379.
- Locke AE, Kahali B, Berndt SI, Justice AE, Pers TH, Day FR, et al. Genetic studies of body mass index yield new insights for obesity biology. Nature. 2015;518(7538):197-206.
- Pers TH, Karjalainen JM, Chan Y, Westra HJ, Wood AR, Yang J, et al. Biological interpretation of genome-wide association studies using predicted gene functions. Nature communications. 2015;6:5890.
- Power RA, Steinberg S, Bjornsdottir G, Rietveld CA, Abdellaoui A, Nivard MM, et al. Polygenic risk scores for schizophrenia and bipolar disorder predict creativity.Nature Neuroscience 2015;18(7):953-5.
- Vermeulen SH, Hanum N, Grotenhuis AJ, Castano-Vinyals G, van der Heijden AG, Aben KK, et al. Recurrent urinary tract infection and risk of bladder cancer in the Nijmegen bladder cancer study. British journal of cancer. 2015;112(3):594-600.
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2014
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- Foroud T, Lai D, Koller D, Van't Hof F, Kurki MI, Anderson CS, et al. Genome-wide association study of intracranial aneurysm identifies a new association on chromosome 7. Stroke; a journal of cerebral circulation. 2014;45(11):3194-9.
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- Medici M, Porcu E, Pistis G, Teumer A, Brown SJ, Jensen RA, et al. Identification of novel genetic Loci associated with thyroid peroxidase antibodies and clinical thyroid disease. PLoS genetics. 2014;10(2):e1004123.
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2013
- Berndt SI, Gustafsson S, Magi R, et al. Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture. Nat Genet. 2013;45(5):501-512.
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- Harrison SC, Zabaneh D, Asselbergs FW, et al. A gene-centric study of common carotid artery remodelling. Atherosclerosis. 2013;226(2):440-446.
- Heilmann S, Kiefer AK, Fricker N, et al. Androgenetic alopecia: identification of four genetic risk loci and evidence for the contribution of WNT signaling to its etiology. J Invest Dermatol. 2013;133(6):1489-1496.
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- Iles MM, Law MH, Stacey SN, et al. A variant in FTO shows association with melanoma risk not due to BMI. Nat Genet. 2013;45(4):428-432, 432e421.
- Marijnissen RM, Bus BA, Schoevers RA, et al. Atherosclerosis Decreases the Impact of Neuroticism in Late-Life Depression: Hypothesis of Vascular Apathy. Am J Geriatr Psychiatry. 2013
- Marijnissen RM, et al. Association between metabolic syndrome and depressive symptom profilessex-specific? J Affect Disord. 2013;151(3):1138-42.
- Pearce CL, Rossing MA, Lee AW, et al. Combined and interactive effects of environmental and GWAS-identified risk factors in ovarian cancer. Cancer Epidemiol Biomarkers Prev. 2013;22(5):880-890.
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- Pharoah PD, Tsai YY, Ramus SJ, et al. GWAS meta-analysis and replication identifies three new susceptibility loci for ovarian cancer. Nat Genet. 2013;45(4):362-370, 370e361-362.
- Porcu E, Medici M, Pistis G, et al. A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function. PLoS Genet. 2013;9(2):e1003266.
- Randall JC, Winkler TW, Kutalik Z, et al. Sex-stratified genome-wide association studies including 270,000 individuals show sexual dimorphism in genetic loci for anthropometric traits. PLoS Genet. 2013;9(6):e1003500.
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- van Meurs JB, Pare G, Schwartz SM, et al. Common genetic loci influencing plasma homocysteine concentrations and their effect on risk of coronary artery disease. Am J Clin Nutr. 2013.
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2012
- Amin N, Byrne E, Johnson J, et al. Genome-wide association analysis of coffee drinking suggests association with CYP1A1/CYP1A2 and NRCAM. Mol Psychiatry. 2012;17(11):1116-1129.
- Bergboer JG, Umicevic-Mirkov M, Fransen J, et al. A replication study of the association between rheumatoid arthritis and deletion of the late cornified envelope genes LCE3B and LCE3C. PLoS One. 2012;7(2):e32045.
- Boraska V, Jeroncic A, Colonna V, et al. Genome-wide meta-analysis of common variant differences between men and women. Hum Mol Genet. 2012;21(21):4805-4815.
- Bus BA, Tendolkar I, Franke B, et al. Serum brain-derived neurotrophic factor: determinants and relationship with depressive symptoms in a community population of middle-aged and elderly people. World J Biol Psychiatry. 2012;13(1):39-47.
- Cote ML, Liu M, Bonassi S, et al. Increased risk of lung cancer in individuals with a family history of the disease: a pooled analysis from the International Lung Cancer Consortium. Eur J Cancer. 2012;48(13):1957-1968.
- Gudmundsson J, Sulem P, Gudbjartsson DF, et al. Discovery of common variants associated with low TSH levels and thyroid cancer risk. Nat Genet. 2012;44(3):319-322.
- Gudmundsson J, Sulem P, Gudbjartsson DF, et al. A study based on whole-genome sequencing yields a rare variant at 8q24 associated with prostate cancer. Nat Genet. 2012;44(12):1326-1329.
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- Li R, Brockschmidt FF, Kiefer AK, et al. Six novel susceptibility Loci for early-onset androgenetic alopecia and their unexpected association with common diseases. PLoS Genet. 2012;8(5):e1002746.
- Lu Y, Chen X, Beesley J, et al. Genome-wide association study for ovarian cancer susceptibility using pooled DNA. Twin Res Hum Genet. 2012;15(5):615-623.
- Luciano M, Huffman JE, Arias-Vasquez A, et al. Genome-wide association uncovers shared genetic effects among personality traits and mood states. Am J Med Genet B Neuropsychiatr Genet. 2012;159B(6):684-695.
- Manjarrez-Orduno N, Marasco E, Chung SA, et al. CSK regulatory polymorphism is associated with systemic lupus erythematosus and influences B-cell signaling and activation. Nat Genet. 2012;44(11):1227-1230.
- Murabito JM, White CC, Kavousi M, et al. Association between chromosome 9p21 variants and the ankle-brachial index identified by a meta-analysis of 21 genome-wide association studies. Circ Cardiovasc Genet. 2012;5(1):100-112.
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- Urayama KY, Jarrett RF, Hjalgrim H, et al. Genome-wide association study of classical Hodgkin lymphoma and Epstein-Barr virus status-defined subgroups. J Natl Cancer Inst. 2012;104(3):240-253.
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2011
- Amankwah EK et al. Polymorphisms in stromal genes and susceptibility to serous epithelial ovarian cancer: a report from the ovarian cancer association consortium. PLoS One 2011; 6: e19642.
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- Bown MJ et al. Abdominal aortic aneurysm is associated with a variant in low-density lipoprotein receptor-related protein 1. Am J Hum Genet 2011;89:619-27.
- Bus BA et al. Depressive symptom clusters are differentially associated with atherosclerotic disease. Psychol Med 2011; 41: 1419-28.
- Galesloot TE et al. Serum hepcidin: reference ranges and biochemical correlates in the general population. Blood 2011; 117: e218-25.
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- Ingason A et al. Maternally Derived Microduplications at 15q11-q13: Implication of Imprinted Genes in Psychotic Illness. Am J Psychiatry 2011; 168: 408-17.
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- Medici M et al. A large-scale association analysis of 68 thyroid hormone pathway genes with serum TSH and FT4 levels. Eur J Endocrinol 2011; 164: 781-8.
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- Rafnar T, Vermeulen SH, Sulem P, et al. European genome-wide association study identifies SLC14A1 as a new urinary bladder cancer susceptibility gene. Hum Mol Genet. 2011;20(21):4268-4281.
- Reif A, Nguyen TT, Weissflog L, et al. DIRAS2 is associated with adult ADHD, related traits, and co-morbid disorders.Neuropsychopharmacology. 2011;36(11):2318-2327.
- Rodriguez-Rodriguez L et al. The PTPN22 R263Q polymorphism is a risk factor for rheumatoid arthritis in caucasian case-control samples. Arthritis Rheum 2011; 63: 365-72.
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- Sulem P et al. Sequence variants at CYP1A1-CYP1A2 and AHR associate with coffee consumption. Hum Mol Genet 2011; 20: 2071-7.
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2010
- Blauw HM et al. A large genome scan for rare CNVs in amyotrophic lateral sclerosis. Hum Mol Genet 2010; 19: 4091-9.
- Bolton KL et al. Common variants at 19p13 are associated with susceptibility to ovarian cancer. Nat Genet 2010; 42: 880-4.
- Coenen MJ et al. Genetic variants in toll-like receptors are not associated with rheumatoid arthritis susceptibility or anti-tumour necrosis factor treatment outcome. PLoS One 2010; 5: e14326.
- Cremers RG et al. Androgenic alopecia is not useful as an indicator of men at high risk of prostate cancer. Eur J Cancer 2010; 46: 3294-9.
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- Gretarsdottir S et al. Genome-wide association study identifies a sequence variant within the DAB2IP gene conferring susceptibility to abdominal aortic aneurysm. Nat Genet 2010; 42: 692-7.
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- Lango AH et al. Hundreds of variants clustered in genomic loci and biological pathways affect human height. Nature 2010; 467: 832-8.
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2009
- de Cid R et al. Deletion of the late cornified envelope LCE3B and LCE3C genes as a susceptibility factor for psoriasis. Nat Genet 2009; 41: 211-5.
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- Rafnar T et al. Sequence variants at the TERT-CLPTM1L locus associate with many cancer types. Nat Genet 2009; 41: 221-7.
- Ross HA et al. Composite reference interval for thyroid-stimulating hormone and free thyroxine, comparison with common cutoff values, and reconsideration of subclinical thyroid disease. Clin Chem 2009; 55: 2019-25.
- Rujescu D et al. Disruption of the neurexin 1 gene is associated with schizophrenia. Hum Mol Genet 2009; 18: 988-96.
- Stacey SN et al. New common variants affecting susceptibility to basal cell carcinoma. Nat Genet 2009; 41: 909-14.
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- Sulem P et al. Genome-wide association study identifies sequence variants on 6q21 associated with age at menarche. Nat Genet 2009; 41: 734-8.
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- van Es MA et al. Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis. Nat Genet 2009; 41: 1083-7.
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2008
- Franke B et al. Association of the dopamine transporter (SLC6A3/DAT1) gene 9-6 haplotype with adult ADHD. Am J Med Genet B Neuropsychiatr Genet 2008; 147B: 1576-9.
- Gilles R et al. Thyroid function in patients with proteinuria. Neth J Med 2008; 66: 483-5.
- Gudbjartsson DF et al. Many sequence variants affecting diversity of adult human height. Nat Genet 2008; 40: 609-15.
- Gudmundsson J et al. Common sequence variants on 2p15 and Xp11.22 confer susceptibility to prostate cancer. Nat Genet 2008; 40: 281-3.
- Hollox EJ et al. Psoriasis is associated with increased beta-defensin genomic copy number. Nat Genet 2008; 40: 23-5.
- Kiemeney LA et al. Sequence variant on 8q24 confers susceptibility to urinary bladder cancer. Nat Genet 2008; 40: 1307-12.
- Stacey SN et al. Common variants on chromosome 5p12 confer susceptibility to estrogen receptor-positive breast cancer. Nat Genet 2008; 40: 703-6.
- Stefansson H et al. Large recurrent microdeletions associated with schizophrenia. Nature 2008; 455: 232-6.
- Sulem P et al. Two newly identified genetic determinants of pigmentation in Europeans. Nat Genet 2008; 40: 835-7.
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2007
- Armour JA et al. Accurate, high-throughput typing of copy number variation using paralogue ratios from dispersed repeats. Nucleic Acids Res 2007; 35: e19.
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- Jacobs EM et al. Morbidity and mortality in first-degree relatives of C282Y homozygous probands with clinically detected haemochromatosis compared with the general population: the HEmochromatosis FAmily Study (HEFAS). Neth J Med 2007; 65: 425-33.
- Stacey SN et al. Common variants on chromosomes 2q35 and 16q12 confer susceptibility to estrogen receptor-positive breast cancer. Nat Genet 2007; 39: 865-9.
- Sulem P et al. Genetic determinants of hair, eye and skin pigmentation in Europeans. Nat Genet 2007; 39: 1443-52.
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2006
- Hoogendoorn EH et al. Thyroid function and prevalence of anti-thyroperoxidase antibodies in a population with borderline sufficient iodine intake: influences of age and sex. Clin Chem 2006; 52: 104-11.
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