Benefits and limitations of genome-wide association studies

被引：1248

作者：

Tam, Vivian ^{[1
]}

Patel, Nikunj ^{[1
]}

Turcotte, Michelle ^{[1
]}

Bosse, Yohan ^{[2
,3
]}

Pare, Guillaume ^{[1
,4
]}

Meyre, David ^{[1
,4
,5
]}

机构：

[1] McMaster Univ, Dept Hlth Res Methods Evidence & Impact, Hamilton, ON, Canada

[2] Univ Laval, Inst Univ Cardiol & Pneumol Quebec, Quebec City, PQ, Canada

[3] Laval Univ, Dept Mol Med, Quebec City, PQ, Canada

[4] McMaster Univ, Dept Pathol & Mol Med, Hamilton, ON, Canada

[5] Univ Lorraine, Fac Med, Inserm UMRS 954 N GERE Nutr Genet Environm Risks, Nancy, France

来源：

NATURE REVIEWS GENETICS | 2019年 / 20卷 / 08期

关键词：

BODY-MASS INDEX; SINGLE-NUCLEOTIDE POLYMORPHISM; DETECTABLE CLONAL MOSAICISM; CONTRASTING GENETIC ARCHITECTURES; FREQUENCY CODING VARIANTS; CORONARY-HEART-DISEASE; OF-FUNCTION MUTATIONS; FACTOR-H POLYMORPHISM; C-REACTIVE PROTEIN; COMMON VARIANTS;

D O I：

10.1038/s41576-019-0127-1

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Genome-wide association studies (GWAS) involve testing genetic variants across the genomes of many individuals to identify genotype-phenotype associations. GWAS have revolutionized the field of complex disease genetics over the past decade, providing numerous compelling associations for human complex traits and diseases. Despite clear successes in identifying novel disease susceptibility genes and biological pathways and in translating these findings into clinical care, GWAS have not been without controversy. Prominent criticisms include concerns that GWAS will eventually implicate the entire genome in disease predisposition and that most association signals reflect variants and genes with no direct biological relevance to disease. In this Review, we comprehensively assess the benefits and limitations of GWAS in human populations and discuss the relevance of performing more GWAS.

引用

页码：467 / 484

页数：18

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