A HapMap harvest of insights into the genetics of common disease

被引：754

作者：

Manolio, Teri A. ^{[1
]}

Brooks, Lisa D. ^{[1
]}

Collins, Francis S. ^{[1
]}

机构：

[1] NHGRI, Bethesda, MD 20892 USA

来源：

JOURNAL OF CLINICAL INVESTIGATION | 2008年 / 118卷 / 05期

关键词：

D O I：

10.1172/JCI34772

中图分类号：

R-3 [医学研究方法]; R3 [基础医学];

学科分类号：

1001 [基础医学];

摘要：

The International HapMap Project was designed to create a genome-wide database of patterns of human genetic variation, with the expectation that these patterns would be useful for genetic association studies of common diseases. This expectation has been amply fulfilled with just the initial output of genome-wide association studies, identifying nearly 100 loci for nearly 40 common diseases and traits. These associations provided new insights into pathophysiology, suggesting previously unsuspected etiologic pathways for common diseases that win be of use in identifying new therapeutic targets and developing targeted interventions based on genetically defined risk. In addition, HapMap-based discoveries have shed new fight on the impact of evolutionary pressures on the human genome, suggesting multiple loci important for adapting to disease-causing pathogens and new environments. In this review we examine the origin, development, and current status of the HapMap; its prospects for continued evolution; and its current and potential future impact on biomedical science.

引用

页码：1590 / 1605

页数：16

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