The International HapMap Project produced a genome-wide database of human genetic variation for use in genetic association studies of common diseases. The initial output of these studies has been overwhelming, with over 150 risk loci identified in studies of more than 60 common diseases and traits. These associations have suggested previously unsuspected etiologic pathways for common diseases that will be of use in identifying new therapeutic targets and developing targeted interventions based on genetically defined risk. Here we examine the development and application of the HapMap to genome-wide association (GWA) studies; present and future technologies for GWA research; current major efforts in GWA studies; successes and limitations of the GWA approach in identifying polymorphisms related to complex diseases; data release and privacy polices; use of these findings by clinicians, the public, and academic physicians; and sources of ongoing authoritative information on this rapidly evolving field.

中文翻译：

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诊断和治疗中的 HapMap 和全基因组关联研究。

国际 HapMap 项目制作了一个人类遗传变异的全基因组数据库，用于常见疾病的遗传关联研究。这些研究的初步成果是压倒性的，在 60 多种常见疾病和特征的研究中确定了 150 多个风险位点。这些关联提出了以前未预料到的常见疾病的病因学途径，这些途径将用于确定新的治疗目标和基于遗传定义的风险开发有针对性的干预措施。在这里，我们研究了 HapMap 在全基因组关联 (GWA) 研究中的发展和应用；GWA 研究的当前和未来技术；目前在 GWA 研究方面的主要努力；GWA 方法在识别与复杂疾病相关的多态性方面的成功和局限性；数据发布和隐私政策；临床医生、公众和学术医师对这些发现的使用；以及有关这一快速发展领域的持续权威信息来源。