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通过对187种新型风险变异的多祖先全基因组发现来表征前列腺癌风险

Anqi Wang¹, Jiayi Shen¹, Alex A Rodriguez²

¹Center for Genetic Epidemiology, Department of Population and Public Health Sciences, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.

Nature genetics

|November 9, 2023

概括

这项研究在不同人群中发现了187种新的前列腺癌风险变异. 开发的遗传风险评分 (GRS) 有效地预测了跨祖先的前列腺癌风险,改善了个性化医疗.

科学领域:

遗传学是一个遗传学.
在瘤学瘤学.
人口健康人口健康

背景情况:

前列腺癌的遗传风险评分 (GRSs) 由于在遗传研究中代表性不足,在不同人群中具有有限的临床实用性.
以前的前列腺癌全基因组关联研究 (GWAS) 缺乏足够的多样性,阻碍了广泛适用的风险预测工具的开发.

研究的目的:

进行一项针对前列腺癌的大规模,多祖先的全基因组关联研究 (GWAS).
在不同祖先群体中识别前列腺癌的新型遗传风险变异.
开发和验证前列腺癌风险分层的多祖先遗传风险评分 (GRS).

主要方法:

进行了多祖先全基因组关联研究 (GWAS),包括156,319例前列腺癌病例和788,443名欧洲,非洲,亚洲和西班牙裔男性的对照.
确定了187种新的前列腺癌风险变体.
开发并外部复制了一个多祖先的GRS.

主要成果:

确定了187种新的风险变体,使总数达到451.
多祖先的GRS证明了跨祖先的有效风险预测,每标准偏差的风险从1.8 (非洲祖先) 到2.2 (欧洲祖先) 之间.
在非洲血统的男性中,GRS与具有攻击性与非攻击性前列腺癌的显著更高风险相关 (P=0.03).

结论:

这项研究显著扩大了已知的前列腺癌易感部位的数量.
一个多祖先的GRS显示了在不同人群中有效的风险分层的希望.
这些发现有助于提高在代表性不足的群体中预测前列腺癌遗传风险的临床实用性.

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