Furukawa Takuma, Hara Megumi, Nishida Yuichiro, Tanaka Keitaro, Shimanoe Chisato, Iwasaka Chiharu, Otonari Jun, Ikezaki Hiroaki, Nagayoshi Mako, Tamura Takashi, Tamada Yudai, Okada Rieko, Oze Isao, Ito Hidemi, Michihata Nobuaki, Nakamura Yohko, Tanoue Shiroh, Koriyama Chihaya, Suzuki Sadao, Otani Takahiro, Watanabe Isao, Tomida Satomi, Kuriki Kiyonori, Takashima Naoyuki, Kadota Aya, Ishizu Masashi, Watanabe Takeshi, Nakatochi Masahiro, Momozawa Yukihide, Wakai Kenji, Matsuo Keitaro
Department of Preventive Medicine, Faculty of Medicine, Saga University, Saga, Japan.
Clinical Research Center, Saga University Hospital, Saga, Japan.
NPJ Metab Health Dis. 2025 May 3;3(1):17. doi: 10.1038/s44324-025-00059-0.
Polygenic risk scores (PRS) are useful for assessing disease risk; however, knowledge about their effectiveness among Asian and other populations is limited. This study aimed to compare the classification accuracy of PRSs for type 2 diabetes (T2D-PRS) developed from different ancestry groups using genotype data from 14,083 Japanese participants. Participants' scores were calculated using T2D-PRS models, and logistic regression analysis and receiver operating characteristic curves were assessed. The odds ratio of diabetes per 1 standard deviation increase in PRS was 2.18 and 1.55 for the Japanese and European T2D-PRSs, respectively. The area under the curve (AUC) for the Japanese T2D-PRS was 0.781, whereas that for the European T2D-PRS was 0.738 (P < 0.001). Additionally, age-stratified analysis showed higher AUCs in younger than older age groups. The PRS developed from matched ancestry populations has high classification accuracy for diabetes and is particularly useful for the early detection of high-risk individuals with diabetes.
多基因风险评分（PRS）对于评估疾病风险很有用；然而，关于其在亚洲人群和其他人群中的有效性的知识有限。本研究旨在使用来自14,083名日本参与者的基因型数据，比较由不同祖先群体开发的2型糖尿病多基因风险评分（T2D-PRS）的分类准确性。使用T2D-PRS模型计算参与者的评分，并评估逻辑回归分析和受试者工作特征曲线。日本和欧洲T2D-PRS每增加1个标准差的糖尿病优势比分别为2.18和1.55。日本T2D-PRS的曲线下面积（AUC）为0.781，而欧洲T2D-PRS的曲线下面积为0.738（P < 0.001）。此外，年龄分层分析显示，年轻年龄组的AUC高于老年年龄组。从匹配的祖先群体开发的PRS对糖尿病具有较高的分类准确性，对于早期发现糖尿病高危个体特别有用。
