全基因组关联研究概述

An Overview of Genome-Wide Association Studies.

作者信息

Chang Michelle, He Lin, Cai Lei

机构信息

Bio-X Institutes, Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders (Ministry of Education), Collaborative Innovation Center of Genetics and Development, Shanghai Jiao Tong University, Shanghai, 200240, China.

出版信息

Methods Mol Biol. 2018;1754:97-108. doi: 10.1007/978-1-4939-7717-8_6.

DOI:10.1007/978-1-4939-7717-8_6

PMID:29536439

Abstract

Genome-wide association study (GWAS) is a powerful study design to identify genetic variants of a trait and, in particular, detect the association between common single-nucleotide polymorphisms (SNPs) and common human diseases such as heart disease, inflammatory bowel disease, type 2 diabetes, and psychiatric disorders. The standard strategy of population-based case-control studies for GWAS is illustrated in this chapter. We provide an overview of the concepts underlying GWAS, as well as provide guidelines for statistical methods performed in GWAS.

摘要

全基因组关联研究（GWAS）是一种强大的研究设计，用于识别某一性状的遗传变异，特别是检测常见单核苷酸多态性（SNP）与常见人类疾病（如心脏病、炎症性肠病、2型糖尿病和精神疾病）之间的关联。本章阐述了基于人群的GWAS病例对照研究的标准策略。我们概述了GWAS背后的概念，并提供了GWAS中所采用统计方法的指南。