Please use this identifier to cite or link to this item: http://hdl.handle.net/1942/32654
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dc.contributor.authorvan de Pol, Jeroen A. A.-
dc.contributor.authorvan den Brandt, Piet A.-
dc.contributor.authorvan Engeland, Manon-
dc.contributor.authorGodschalk, Roger W. L.-
dc.contributor.authorVAN SCHOOTEN, Frederik-Jan-
dc.contributor.authorHOGERVORST, Janneke-
dc.contributor.authorSchouten, Leo J.-
dc.date.accessioned2020-11-23T10:18:20Z-
dc.date.available2020-11-23T10:18:20Z-
dc.date.issued2020-
dc.date.submitted2020-11-03T14:07:23Z-
dc.identifier.citationScientific Reports, 10 (1) (Art N° 137)-
dc.identifier.urihttp://hdl.handle.net/1942/32654-
dc.description.abstractWe investigated the relationship between germline single nucleotide polymorphisms (SNPs) in Von Hippel-Lindau (VHL) and Hypoxia-inducible factor 1-alpha (HIF1A), and their gene-environment and gene-gene interactions, and clear-cell RCC (ccRCC) risk. Furthermore, we assessed the relationship between VHL SNPs and VHL promoter methylation. Three VHL polymorphisms and one HIF1A polymorphism were genotyped in the Netherlands Cohort Study. In 1986, 120,852 participants aged 55-69 completed a self-administered questionnaire on diet and lifestyle and toenail clippings were collected. Toenail DNA was genotyped using the Sequenom MassARRAY platform. After 20.3 years, 3004 subcohort members and 406 RCC cases, of which 263 ccRCC cases, were eligible for multivariate case-cohort analyses. VHL_rs779805 was associated with RCC (Hazard Ratio (HR) 1.53; 95% Confidence Interval (CI) 1.07-2.17) and ccRCC risk (HR 1.88; 95% CI 1.25-2.81). No associations were found for other SNPs. Potential gene-environment interactions were found between alcohol consumption and selected SNPs. However, none remained statistically significant after multiple comparison correction. No gene-gene interactions were observed between VHL and HIF1A. VHL promoter methylation was not associated with VHL SNPs. VHL SNPs may increase (cc)RCC susceptibility. No associations were found between gene-environment and gene-gene interactions and (cc)RCC risk and between VHL promoter methylation and VHL SNPs.-
dc.description.sponsorshipThe authors are indebted to all the participants of the Netherlands Cohort study on diet and cancer, and further wish to thank the Netherlands Cancer Registry, the Dutch Pathology Registry (PALGA) and the BioBank Maastricht UMC+. Te authors are grateful to I. Deckers for the preparatory work and sample selection, S. van Breda for the pilot work to isolate DNA from toenails, the laboratory technicians L. Maas, J. Goessens, L. Jonkers, K. Lemmens and S. Lumeij for DNA isolation and sample preparation and C. Hulsbergen-van de Kaa and M. Baldewijns for revising the tumor histology. Finally, the authors thank C. Simons, S. van de Crommert, J. Nelissen, H. Brants, C. de Zwart, M. Moll and A. Pisters, for their assistance with data entry or data management; and H. van Montfort, T. van Moergastel, E. Dutman, and R. Schmeitz for programming assistance. Tis research received no specifc grant from any funding agency in the public, commercial or not-for-proft sectors.-
dc.language.isoen-
dc.publisherNATURE PUBLISHING GROUP-
dc.rightsOpen Access. This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. Te images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.-
dc.subject.otherGenome-Wide Association-
dc.subject.otherMethylation-Specific Pcr-
dc.subject.otherAlcohol-Consumption-
dc.subject.otherSusceptibility Locus-
dc.subject.otherRisk-
dc.subject.otherCarcinoma-
dc.subject.otherVhl-
dc.subject.otherMutations-
dc.subject.otherVariants-
dc.subject.otherCohort-
dc.titleGermline polymorphisms in the Von Hippel-Lindau and Hypoxia-inducible factor 1-alpha genes, gene-environment and gene-gene interactions and renal cell cancer-
dc.typeJournal Contribution-
dc.identifier.issue1-
dc.identifier.volume10-
local.format.pages9-
local.bibliographicCitation.jcatA1-
dc.description.notesvan de Pol, JAA (corresponding author), Maastricht Univ, GROW Sch Oncol & Dev Biol, Dept Epidemiol, Maastricht, Netherlands.-
dc.description.notesjeroen.vandepol@maastrichtuniversity.nl-
dc.description.othervan de Pol, JAA (corresponding author), Maastricht Univ, GROW Sch Oncol & Dev Biol, Dept Epidemiol, Maastricht, Netherlands. jeroen.vandepol@maastrichtuniversity.nl-
local.publisher.placeMACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND-
local.type.refereedRefereed-
local.type.specifiedArticle-
local.bibliographicCitation.artnr137-
dc.identifier.doi10.1038/s41598-019-56980-0-
dc.identifier.pmid31924838-
dc.identifier.isiWOS:000551344900001-
dc.contributor.orcidSchouten, Leo/0000-0003-3361-7560-
dc.identifier.eissn-
local.provider.typewosris-
local.uhasselt.uhpubyes-
local.description.affiliation[van de Pol, Jeroen A. A.; van den Brandt, Piet A.; Schouten, Leo J.] Maastricht Univ, GROW Sch Oncol & Dev Biol, Dept Epidemiol, Maastricht, Netherlands.-
local.description.affiliation[van den Brandt, Piet A.] Maastricht Univ, Care & Publ Hlth Res Inst CAPHRI, Dept Epidemiol, Maastricht, Netherlands.-
local.description.affiliation[van Engeland, Manon] Maastricht Univ, Med Ctr, GROW Sch Oncol & Dev Biol, Dept Pathol, Maastricht, Netherlands.-
local.description.affiliation[Godschalk, Roger W. L.; van Schooten, Frederik-Jan] Maastricht Univ, NUTRIM Sch Nutr & Translat Res Metab, Dept Pharmacol & Toxicol, Maastricht, Netherlands.-
local.description.affiliation[Hogervorst, Janneke G. F.] Hasselt Univ, Ctr Environm Sci, Diepenbeek, Belgium.-
item.fulltextWith Fulltext-
item.contributorvan de Pol, Jeroen A. A.-
item.contributorvan den Brandt, Piet A.-
item.contributorvan Engeland, Manon-
item.contributorGodschalk, Roger W. L.-
item.contributorVAN SCHOOTEN, Frederik-Jan-
item.contributorHOGERVORST, Janneke-
item.contributorSchouten, Leo J.-
item.fullcitationvan de Pol, Jeroen A. A.; van den Brandt, Piet A.; van Engeland, Manon; Godschalk, Roger W. L.; VAN SCHOOTEN, Frederik-Jan; HOGERVORST, Janneke & Schouten, Leo J. (2020) Germline polymorphisms in the Von Hippel-Lindau and Hypoxia-inducible factor 1-alpha genes, gene-environment and gene-gene interactions and renal cell cancer. In: Scientific Reports, 10 (1) (Art N° 137).-
item.accessRightsOpen Access-
item.validationecoom 2021-
crisitem.journal.issn2045-2322-
crisitem.journal.eissn2045-2322-
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