Disease variants alter transcription factor levels and methylation of their binding sites

Most disease-associated genetic variants are noncoding, making it challenging to design experiments to understand their functional consequences. Identification of expression quantitative trait loci (eQTLs) has been a powerful approach to infer the downstream effects of disease-associated variants, but most of these variants remain unexplained. The analysis of DNA methylation, a key component of the epigenome, offers highly complementary data on the regulatory potential of genomic regions. Here we show that disease-associated variants have widespread effects on DNA methylation in trans that lik... Mehr ...

Verfasser: Bonder, Marc Jan
Luijk, René
Zhernakova, Daria V
Moed, Matthijs
Deelen, Patrick
Vermaat, Martijn
van Iterson, Maarten
van Dijk, Freerk
van Galen, Michiel
Bot, Jan
Slieker, Roderick C
Jhamai, P Mila
Verbiest, Michael
Suchiman, H Eka D
Verkerk, Marijn
van der Breggen, Ruud
van Rooij, Jeroen
Lakenberg, Nico
Arindrarto, Wibowo
Kielbasa, Szymon M
Jonkers, Iris
van 't Hof, Peter
Nooren, Irene
Beekman, Marian
Deelen, Joris
van Heemst, Diana
Zhernakova, Alexandra
Tigchelaar, Ettje F
Swertz, Morris a.
Hofman, Albert
Uitterlinden, André G
Pool, René
van Dongen, J.
Hottenga, Jouke J
Stehouwer, Coen D A
van der Kallen, Carla J H
Schalkwijk, Casper G
van den Berg, Leonard H
van Zwet, Erik W
Mei, Hailiang
Li, Yang
Lemire, Mathieu
Hudson, Thomas J
Slagboom, P. Eline
Wijmenga, Cisca
Veldink, Jan H
Van Greevenbroek, Marleen J.
van Duijn, Cornelia M
Boomsma, Dorret I
Isaacs, Aaron
Dokumenttyp: Artikel
Erscheinungsdatum: 2017
Reihe/Periodikum: Bonder , M J , Luijk , R , Zhernakova , D V , Moed , M , Deelen , P , Vermaat , M , van Iterson , M , van Dijk , F , van Galen , M , Bot , J , Slieker , R C , Jhamai , P M , Verbiest , M , Suchiman , H E D , Verkerk , M , van der Breggen , R , van Rooij , J , Lakenberg , N , Arindrarto , W , Kielbasa , S M , Jonkers , I , van 't Hof , P , Nooren , I , Beekman , M , Deelen , J , van Heemst , D , Zhernakova , A , Tigchelaar , E F , Swertz , M A , Hofman , A , Uitterlinden , A G , Pool , R , van Dongen , J , Hottenga , J J , Stehouwer , C D A , van der Kallen , C J H , Schalkwijk , C G , van den Berg , L H , van Zwet , E W , Mei , H , Li , Y , Lemire , M , Hudson , T J , Slagboom , P E , Wijmenga , C , Veldink , J H , Van Greevenbroek , M J , van Duijn , C M , Boomsma , D I , Isaacs , A & BIOS Consortium 2017 , ' Disease variants alter transcription factor levels and methylation of their binding sites ' , Nature Genetics , vol. 49 , no. 1 , pp. 131-138 . https://doi.org/10.1038/ng.3721
Schlagwörter: Journal Article / /dk/atira/pure/keywords/cohort_studies/netherlands_twin_register_ntr_ / name=Netherlands Twin Register (NTR) / /dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_being / name=SDG 3 - Good Health and Well-being
Sprache: Englisch
Permalink: https://search.fid-benelux.de/Record/base-27231303
Datenquelle: BASE; Originalkatalog
Powered By: BASE
Link(s) : https://research.vu.nl/en/publications/7b596e0c-3887-4a3b-8a8c-8164a82b4bda

Most disease-associated genetic variants are noncoding, making it challenging to design experiments to understand their functional consequences. Identification of expression quantitative trait loci (eQTLs) has been a powerful approach to infer the downstream effects of disease-associated variants, but most of these variants remain unexplained. The analysis of DNA methylation, a key component of the epigenome, offers highly complementary data on the regulatory potential of genomic regions. Here we show that disease-associated variants have widespread effects on DNA methylation in trans that likely reflect differential occupancy of trans binding sites by cis-regulated transcription factors. Using multiple omics data sets from 3,841 Dutch individuals, we identified 1,907 established trait-associated SNPs that affect the methylation levels of 10,141 different CpG sites in trans (false discovery rate (FDR) < 0.05). These included SNPs that affect both the expression of a nearby transcription factor (such as NFKB1, CTCF and NKX2-3) and methylation of its respective binding site across the genome. Trans methylation QTLs effectively expose the downstream effects of disease-associated variants.