Genetics of human gene expression

被引：14

作者：

Stranger, Barbara E. ^{[1
,2
]}

Raj, Towfique ^{[3
,4
,5
]}

机构：

[1] Univ Chicago, Dept Med, Med Genet Sect, Chicago, IL 60637 USA

[2] Univ Chicago, Inst Genom & Syst Biol, Chicago, IL 60637 USA

[3] Brigham & Womens Hosp, Dept Neurol, Program Translat NeuroPsychiat Genom, Boston, MA 02115 USA

[4] Harvard Univ, Sch Med, Boston, MA USA

[5] Broad Inst, Program Med & Populat Genet, Cambridge, MA USA

来源：

CURRENT OPINION IN GENETICS & DEVELOPMENT | 2013年 / 23卷 / 06期

关键词：

GENOME-WIDE ASSOCIATION; DISEASE; LOCI; TRAITS; TISSUE; SNPS; RNA; ARCHITECTURE; NUCLEOTIDE; VARIANTS;

D O I：

10.1016/j.gde.2013.10.004

中图分类号：

Q2 [细胞生物学];

学科分类号：

071009 ; 090102 ;

摘要：

A steadily growing number of studies have identified and characterized expression quantitative trait loci (eQTLs) in human cell-lines, primary cells, and tissues. This class of variation has been shown to play a role in complex traits, including disease. Here, we discuss how eQTLs have the potential to accelerate discovery of disease genes and functional mechanisms underlying complex traits. We discuss how context-specificity of eQTLs is being characterized at an unprecedented scale and breadth, and how this both informs on the intricacy of human genome function, and has important ramifications for elucidating function of genetic variants of interest, particularly for those contributing to disease.

引用

页码：627 / 634

页数：8

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