Controlling bias and inflation in epigenome- and transcriptome-wide association studies using the empirical null distribution

We show that epigenome- and transcriptome-wide association studies (EWAS and TWAS) are prone to significant inflation and bias of test statistics, an unrecognized phenomenon introducing spurious findings if left unaddressed. Neither GWAS-based methodology nor state-of-the-art confounder adjustment methods completely remove bias and inflation. We propose a Bayesian method to control bias and inflation in EWAS and TWAS based on estimation of the empirical null distribution. Using simulations and real data, we demonstrate that our method maximizes power while properly controlling the false positi... Mehr ...

Verfasser: van Iterson, Maarten
van Zwet, Erik W
Heijmans, Bastiaan T
’t Hoen, Peter a.C
van Meurs, Joyce B J
Jansen, Rick
Franke, Lude
Boomsma, Dorret I.
Pool, René
van Dongen, Jenny
Hottenga, Jouke J.
Van Greevenbroek, Marleen J.
Stehouwer, Coen D A
van der Kallen, Carla J H
Schalkwijk, Casper G
Wijmenga, Cisca
Zhernakova, Sasha
Tigchelaar, Ettje F
Eline Slagboom, P.
Beekman, Marian
Deelen, Joris
van Heemst, Diana
Veldink, Jan H
van den Berg, Leonard H
van Duijn, Cornelia M
Hofman, Bert A.
Isaacs, Aaron
Uitterlinden, André G
Jhamai, P Mila
Verbiest, Michael
Suchiman, H. Eka D.
Verkerk, Marijn
van der Breggen, Ruud
van Rooij, Jeroen
Lakenberg, Nico
Mei, Hailiang
van Galen, Michiel
Bot, Jan
Zhernakova, Dasha V.
van 't Hof, Peter
Deelen, Patrick
Nooren, Irene
Moed, Matthijs
Vermaat, Martijn
Luijk, René
Bonder, Marc Jan
van Dijk, Freerk
Arindrarto, Wibowo
Kielbasa, Szymon M
Swertz, Morris a.
't Hoen, Peter Bram
Dokumenttyp: Artikel
Erscheinungsdatum: 2017
Reihe/Periodikum: van Iterson , M , van Zwet , E W , Heijmans , B T , ’t Hoen , P A C , van Meurs , J B J , Jansen , R , Franke , L , Boomsma , D I , Pool , R , van Dongen , J , Hottenga , J J , Van Greevenbroek , M J , Stehouwer , C D A , van der Kallen , C J H , Schalkwijk , C G , Wijmenga , C , Zhernakova , S , Tigchelaar , E F , Eline Slagboom , P , Beekman , M , Deelen , J , van Heemst , D , Veldink , J H , van den Berg , L H , van Duijn , C M , Hofman , B A , Isaacs , A , Uitterlinden , A G , Jhamai , P M , Verbiest , M , Suchiman , H E D , Verkerk , M , van der Breggen , R , van Rooij , J , Lakenberg , N , Mei , H , van Galen , M , Bot , J , Zhernakova , D V , van 't Hof , P , Deelen , P , Nooren , I , Moed , M , Vermaat , M , Luijk , R , Bonder , M J , van Dijk , F , Arindrarto , W , Kielbasa , S M , Swertz , M A & 't Hoen , P B 2017 , ' Controlling bias and inflation in epigenome- and transcriptome-wide association studies using the empirical null distribution ' , Genome Biology , vol. 18 , no. 1 , 19 . https://doi.org/10.1186/s13059-016-1131-9
Schlagwörter: Bias / Empirical null distribution / Epigenome- and transcriptome-wide association studies / Gibbs sampler / Inflation / Meta-analysis / /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-29214101
Datenquelle: BASE; Originalkatalog
Powered By: BASE
Link(s) : https://research.vu.nl/en/publications/7fc4fe08-0eae-4379-a913-93ca33f92816

We show that epigenome- and transcriptome-wide association studies (EWAS and TWAS) are prone to significant inflation and bias of test statistics, an unrecognized phenomenon introducing spurious findings if left unaddressed. Neither GWAS-based methodology nor state-of-the-art confounder adjustment methods completely remove bias and inflation. We propose a Bayesian method to control bias and inflation in EWAS and TWAS based on estimation of the empirical null distribution. Using simulations and real data, we demonstrate that our method maximizes power while properly controlling the false positive rate. We illustrate the utility of our method in large-scale EWAS and TWAS meta-analyses of age and smoking.