全基因组关联研究中的复杂疾病基因座定位

Mapping complex disease loci in whole-genome association studies.

作者信息

Carlson Christopher S, Eberle Michael A, Kruglyak Leonid, Nickerson Deborah A

机构信息

Department of Genome Sciences, University of Washington, 1705 NE Pacific, Seattle, Washington 98195-7730, USA.

出版信息

Nature. 2004 May 27;429(6990):446-52. doi: 10.1038/nature02623.

DOI:10.1038/nature02623

PMID:15164069

Abstract

Identification of the genetic polymorphisms that contribute to susceptibility for common diseases such as type 2 diabetes and schizophrenia will aid in the development of diagnostics and therapeutics. Previous studies have focused on the technique of genetic linkage, but new technologies and experimental resources make whole-genome association studies more feasible. Association studies of this type have good prospects for dissecting the genetics of common disease, but they currently face a number of challenges, including problems with multiple testing and study design, definition of intermediate phenotypes and interaction between polymorphisms.

摘要

识别导致2型糖尿病和精神分裂症等常见疾病易感性的基因多态性，将有助于诊断和治疗方法的开发。以往的研究集中在基因连锁技术上，但新技术和实验资源使全基因组关联研究变得更加可行。这类关联研究在剖析常见疾病的遗传学方面前景良好，但目前面临一些挑战，包括多重检验和研究设计问题、中间表型的定义以及多态性之间的相互作用。