对来自不同祖先群体的2型糖尿病多基因风险评分进行比较
Takuma Furukawa1,2, Megumi Hara3, Yuichiro Nishida3
1Department of Preventive Medicine, Faculty of Medicine, Saga University, Saga, Japan. sr0753@cc.saga-u.ac.jp.
对2型糖尿病 (T2D-PRS) 的多基因风险评分 (PRS) 显示,当从匹配的祖先群体中开发出来时,其准确性更高. 这有助于在个体,特别是年轻人中提前发现糖尿病风险.
科学领域:
- 遗传学 遗传学 是一个
- 流行病学 流行病学
- 精准医学是一门精准的医学.
背景情况:
- 多基因风险评分 (PRS) 是疾病风险预测的新兴工具.
- 关于不同祖先群体的PRS表现的数据有限,特别是亚洲人群中的2型糖尿病 (T2D).
- 本研究解决了在日本队列中评估T2D-PRS准确性的需要.
研究的目的:
- 为了比较2型糖尿病多基因风险得分 (T2D-PRS) 的分类准确度,从日本与欧洲祖先数据集开发.
- 评估与祖先匹配的T2D-PRS对预测日本人口T2D风险的有用性.
- 调查年龄对T2D-PRS表现的影响.
主要方法:
- 利用了来自14,083名日本参与者的基因型数据.
- 计算T2D-PRS使用来自日本和欧洲祖先群的模型.
- 使用后勤回归分析和接收器运行特征 (ROC) 曲线来评估分类准确性 (曲线下的面积 - AUC).
主要成果:
- 与欧洲T2D-PRS (AUC = 0.738) 相比,日本T2D-PRS在日本队列中显示出更高的预测准确性 (AUC = 0.781).
- 每增加1个标准偏差的PRS与糖尿病的几率比率显著增加有关 (日本PRS为2.18,欧洲PRS为1.55).
- 年龄分层分析显示,较年轻年龄组的AUC值优越,这表明年轻人表现更好.
结论:
- 针对2型糖尿病的多基因风险评分在使用目标人群祖先的遗传数据开发时表现最佳.
- 祖先匹配的T2D-PRS有效地对糖尿病风险进行分类,对早期识别高风险个体尤为有价值.
- 这些发现支持在不同人群中实施定制的PRS用于精准医学方法.
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