全基因组关联研究以鉴定赋予心肌梗死风险的单核苷酸多态性。

Genome-wide association study to identify single-nucleotide polymorphisms conferring risk of myocardial infarction.

作者信息

Ozaki Kouichi, Tanaka Toshihiro

机构信息

RIKEN, SNP Research Center, Tokyo, Japan.

出版信息

Methods Mol Med. 2006;128:173-80. doi: 10.1007/978-1-59745-159-8_12.

DOI:10.1007/978-1-59745-159-8_12

PMID:17071996

Abstract

Myocardial infarction (MI) is characterized by abrupt occlusion of coronary artery resulting in irreversible damage to cardiac muscle. This disease might result from the interactions of multiple genetic and environmental factors, none of which can cause disease solely by themselves. To reveal the genetic bases of MI, we performed a large-scale, case-control association study using 92,788 gene-based single-nucleotide polymorphism (SNP) markers. We have identified functional SNPs within the lymphotoxin-alpha gene located on chromosome 6p21 conferred susceptibility to MI. This chapter describes a detailed protocol for performing a genome-wide association study as used in our MI study.

摘要

心肌梗死（MI）的特征是冠状动脉突然闭塞，导致心肌不可逆损伤。这种疾病可能是多种遗传和环境因素相互作用的结果，其中任何一个因素都不能单独导致疾病。为了揭示MI的遗传基础，我们使用92788个基于基因的单核苷酸多态性（SNP）标记进行了一项大规模的病例对照关联研究。我们已经在位于6号染色体p21上的淋巴毒素-α基因中鉴定出功能性SNP，这些SNP赋予了MI易感性。本章描述了我们在MI研究中使用的全基因组关联研究的详细方案。