A reference population for research into genetic variation, lifestyle and environmental exposures in relation to traits and diseasesIn 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.
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.
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.
18 – 29 years
30 – 39 years
40 – 49 years
50 – 59 years
60 – 69 years
70 – 79 years
≥ 80 years
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 502926 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 70In 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 70Of 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.
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.
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).
NBS5 was executed in 2012. In total, 7,567 persons were invited, 3,833 questionnaires were filled out and returned (51%).
OrganizationThe 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 managementProf. L.A. Kiemeney PhD, Health Evidence / Urology
Prof. A.L. Verbeek PhD, Health Evidence
Prof. D.W. Swinkels PhD, Laboratory medicine
Prof. B. Franke PhD, Genetics
CoordinatorsT.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 involvedData manager
W. Lemmens, Health Evidence
U. Oldenhof, Health Evidence
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.
View the questionnaires used to collect data.
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.
- 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.
- 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.
- 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.
- 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.
- Winkler TW, Justice AE, Graff M, Barata L, Feitosa MF, Chu S, et al. The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study. PLoS Genetics. 2015;11(10):e1005378.
- Benyamin B, Esko T, Ried JS, Radhakrishnan A, Vermeulen SH, Traglia M, et al. Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis. Nature communications. 2014;5:4926.
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