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- Title
COPD GWAS variant at 19q13.2 in relation with DNA methylation and gene expression.
- Authors
Nedeljkovic, Ivana; Lahousse, Lies; Carnero-Montoro, Elena; Faiz, Alen; Vonk, Judith M.; Jong, Kim de; van der Plaat, Diana A.; van Diemen, Cleo C.; Berge, Maarten van den; Obeidat, Ma'en; Bossé, Yohan; Nickle, David C.; Consortium, BIOS; Uitterlinden, Andre G.; van Meurs, Joyce B.J.; Stricker, Bruno H.C.; Brusselle, Guy G.; Postma, Dirkje S.; Boezen, H. Marike; van Duijn, Cornelia M.
- Abstract
Chronic obstructive pulmonary disease (COPD) is among the major health burdens in adults. While cigarette smoking is the leading risk factor, a growing number of genetic variations have been discovered to influence disease susceptibility. Epigenetic modifications may mediate the response of the genome to smoking and regulate gene expression. Chromosome 19q13.2 region is associated with both smoking and COPD, yet its functional role is unclear. Our study aimed to determine whether rs7937 (RAB4B, EGLN2), a top genetic variant in 19q13.2 region identified in genome-wide association studies of COPD, is associated with differential DNA methylation in blood (N=1490) and gene expression in blood (N=721) and lungs
- Publication
Human Molecular Genetics, 2018, Vol 27, Issue 2, p396
- ISSN
0964-6906
- Publication type
Article
- DOI
10.1093/hmg/ddx390