在人类遗传学研究中缺失的多样性
Giorgio Sirugo1, Scott M Williams2, Sarah A Tishkoff3
1Department of Systems Pharmacology and Translational Therapeutics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA; Division of Translational Medicine and Human Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
Cell
|March 23, 2019
概括
遗传关联研究偏向欧洲人群,限制了全球疾病风险的准确预测. 研究必须包括多样化的群体,以提高健康公平性和对疾病遗传因素的理解.
科学领域:
- 遗传学
- 人口健康
- 基因组流行病学
背景情况:
- 大多数遗传关联研究集中在欧洲祖先群体中.
- 这种狭窄的重点在全球疾病遗传学的理解中造成了重大偏差.
- 这些影响扩展到全球不同社区的疾病风险预测的准确性.
研究的目的:
- 突出在遗传关联研究中增加多样性的必要性.
- 展示目前欧洲在遗传研究中的偏见所带来的局限性.
- 倡导全球人口更广泛地参与基因组研究.
主要方法:
- 该评论回顾了遗传关联研究的现有实证实例.
- 它使用理论推理来强调人口多样性的重要性.
- 分析重点是代表性不足对风险预测模型的影响.
主要成果:
- 遗传学研究中的欧洲偏见导致非欧洲人群的疾病风险预测不足或不准确.
- 经验数据和理论论证支持不同群体的必要性.
- 代表性不足会影响遗传发现的概括性.
结论:
- 将遗传关联研究扩展到不同人群是全球健康公平的关键.
- 解决欧洲偏见将提高基因组医学的准确性和适用性.
- 未来的研究必须优先考虑包容性,
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