Gene-gene and gene-environment interactions detected by transcriptome sequence analysis in twins

被引：136

作者：

Buil, Alfonso ^{[1
,2
,3
]}

Brown, Andrew Anand ^{[4
,5
]}

Lappalainen, Tuuli ^{[1
,2
,3
,6
]}

Vinuela, Ana ^{[7
]}

Davies, Matthew N. ^{[7
]}

Zheng, Hou-Feng ^{[8
,9
,10
]}

Richards, J. Brent ^{[7
,8
,9
,10
]}

Glass, Daniel ^{[7
]}

Small, Kerrin S. ^{[7
]}

Durbin, Richard ^{[4
]}

Spector, Timothy D. ^{[7
]}

Dermitzakis, Emmanouil T. ^{[1
,2
,3
]}

机构：

[1] Univ Geneva, Med Ctr, Dept Genet Med & Dev, CH-1211 Geneva, Switzerland

[2] Univ Geneva, Inst Genet & Genom Geneva, Geneva, Switzerland

[3] Swiss Inst Bioinformat, Geneva, Switzerland

[4] Wellcome Trust Sanger Inst, Hinxton, England

[5] Oslo Univ Hosp, Div Mental Hlth & Addict, KG Jebsen Ctr Psychosis Res, NORMENT, Oslo, Norway

[6] Stanford Univ, Dept Genet, Stanford, CA 94305 USA

[7] Univ London, Kings Coll London, Dept Twin Res, London SW3 6LX, England

[8] McGill Univ, Dept Med, Montreal, PQ, Canada

[9] McGill Univ, Dept Human Genet, Montreal, PQ, Canada

[10] McGill Univ, Dept Epidemiol & Biostat, Montreal, PQ, Canada

来源：

NATURE GENETICS | 2015年 / 47卷 / 01期

基金：

瑞士国家科学基金会; 欧洲研究理事会; 美国国家卫生研究院; 英国惠康基金; 加拿大健康研究院;

关键词：

GENOME-WIDE ASSOCIATION; FATTY-ACIDS; POLYMORPHISMS; DISCORDANT; NUCLEOTIDE; ADIPOQ; RNA;

D O I：

10.1038/ng.3162

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Understanding the genetic architecture of gene expression is an intermediate step in understanding the genetic architecture of complex diseases. RNA sequencing technologies have improved the quantification of gene expression and allow measurement of allele-specific expression (ASE). ASE is hypothesized to result from the direct effect of cis regulatory variants, but a proper estimation of the causes of ASE has not been performed thus far. In this study, we take advantage of a sample of twins to measure the relative contributions of genetic and environmental effects to ASE, and we find substantial effects from gene x gene (GxG) and gene x environment (GxE) interactions. We propose a model where ASE requires genetic variability in cis, a difference in the sequence of both alleles, but where the magnitude of the ASE effect depends on trans genetic and environmental factors that interact with the cis genetic variants.

引用

页码：88 / +

页数：6

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