Genetic Study of Complex Diseases in the Post-GWAS Era

被引：72

作者：

Huang, Qingyang ^{[1
]}

机构：

[1] Cent China Normal Univ, Coll Life Sci, Wuhan 430079, Peoples R China

来源：

JOURNAL OF GENETICS AND GENOMICS | 2015年 / 42卷 / 03期

基金：

中国国家自然科学基金;

关键词：

SNP; Genome-wide association study; Complex diseases; Systems genetics; Network biology; LONG-RANGE INTERACTION; MICRORNA TARGET SITES; CANCER SUSCEPTIBILITY; DNA METHYLATION; NONCODING RNA; HUMAN PIGMENTATION; DOWN-REGULATION; BINDING-SITE; RISK-FACTOR; IDENTIFICATION;

D O I：

10.1016/j.jgg.2015.02.001

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Genome-wide association studies (GWASs) have identified thousands of genes and genetic variants (mainly SNPs) that contribute to complex diseases in humans. Functional characterization and mechanistic elucidation of these SNPs and genes action are the next major challenge. It has been well established that SNPs altering the amino acids of protein-coding genes can drastically impact protein function, and play an important role in molecular pathogenesis. Functions of regulatory SNPs can be complex and elusive, and involve gene expression regulation through the effect on RNA splicing, transcription factor binding, DNA methylation and miRNA recruitment. In the present review, we summarize the recent progress in our understanding of functional consequences of GWAS-associated non-coding regulatory SNPs, and discuss the application of systems genetics and network biology in the interpretation of GWAS findings.

引用

页码：87 / 98

页数：12

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