GWAS as a Driver of Gene Discovery in Cardiometabolic Diseases

被引：24

作者：

Atanasovska, Biljana ^{[1
,2
]}

Kumar, Vinod ^{[2
]}

Fu, Jingyuan ^{[1
,2
]}

Wijmenga, Cisca ^{[2
]}

Hofker, Marten H. ^{[1
]}

机构：

[1] Univ Groningen, Univ Med Ctr Groningen, Dept Pediat, Mol Genet Sect, NL-9700 AB Groningen, Netherlands

[2] Univ Groningen, Univ Med Ctr Groningen, Dept Genet, Groningen, Netherlands

来源：

TRENDS IN ENDOCRINOLOGY AND METABOLISM | 2015年 / 26卷 / 12期

基金：

欧洲研究理事会;

关键词：

GENOME-WIDE ASSOCIATION; RNA-SEQ; VARIANTS; IDENTIFICATION; COMMON; RISK; LOCI; OBESITY; BLOOD; AUTOIMMUNE;

D O I：

10.1016/j.tem.2015.10.004

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Cardiometabolic diseases represent a common complex disorder with a strong genetic component. Currently, genome-wide association studies (GWAS) have yielded some 755 single-nucleotide polymorphisms (SNPs) encompassing 366 independent loci that may help to decipher the molecular basis of cardiometabolic diseases. Going from a disease SNP to the underlying disease mechanisms is a huge challenge because the associated SNPs rarely disrupt protein function. Many disease SNPs are located in noncoding regions, and therefore attention is now focused on linking genetic SNP variation to effects on gene expression levels. By integrating genetic information with large-scale gene expression data, and with data from epigenetic roadmaps revealing gene regulatory regions, we expect to be able to identify candidate disease genes and the regulatory potential of disease SNPs.

引用

页码：722 / 732

页数：11

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