全外体遗传风险评分 (ExGRS) 用于预测跨多祖先种群的高近视
Jian Yuan1,2, Ruowen Qiu1,2, Yuhan Wang3
1National Clinical Research Center for Ocular Diseases, Eye Hospital, Wenzhou Medical University, Wenzhou, 325027, China.
Communications medicine
|December 31, 2024
概括
罕见的遗传变异显著导致高近视 (HM) 遗传性. 一个外体全基因风险评分 (ExGRS) 在汉族人群中提高了HM预测的准确性.
科学领域:
- 眼科医生 眼科 眼科
- 遗传学 是一个遗传学.
- 生物信息学是一种生物信息学.
背景情况:
- 高近视 (HM) 是全球视力障碍和失明的主要原因.
- HM是一种复杂的遗传疾病,具有显著的异质性.
- 遗传风险评分 (GRS) 是评估HM易感性的宝贵工具.
研究的目的:
- 为了评估将罕见遗传变异纳入GRS用于HM预测的影响.
- 开发和验证一个全外体遗传风险评分 (ExGRS) 以提高HM风险评估.
主要方法:
- 利用了来自两个大队伍的全外体序列测序 (WES) 数据: 12,600 汉族 (MAGIC) 和 8,682 欧洲人 (英国生物库).
- 使用WES数据估计的HM遗传性.
- 通过结合罕见和常见变异GRS (cvGRS) 来生成和优化ExGRS.
主要成果:
- 估计HM遗传率为0.53 (MAGIC) 和0.21 (英国).
- 在一个独立的汉语测试组中,ExGRS提高了预测准确性 (AUC从0.819到0.856).
- 在前5%的ExGRS个体中,MAGIC队列中HM的风险增加了15.57倍.
结论:
- 罕见的变异是HM遗传性缺失的一个重要因素.
- ExGRS为HM预测提供了更高的准确性,特别是在汉族中国祖先中.
- 这些发现对未来的研究和HM管理中的临床应用有影响.
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