将多基因风险纳入莱斯特风险评估评分，以预测 10 年内 2 型糖尿病的发病风险。
Incorporating polygenic risk into the Leicester Risk Assessment score for 10-year risk prediction of type 2 diabetes.
机构信息
Nuffield Department of Population Health, University of Oxford, Oxford, UK.
Nuffield Department of Population Health, University of Oxford, Oxford, UK.
出版信息
Diabetes Metab Syndr. 2024 Apr;18(4):102996. doi: 10.1016/j.dsx.2024.102996. Epub 2024 Mar 29.
AIMS
We evaluated whether incorporating information on ethnic background and polygenic risk enhanced the Leicester Risk Assessment (LRA) score for predicting 10-year risk of type 2 diabetes.
METHODS
The sample included 202,529 UK Biobank participants aged 40-69 years. We computed the LRA score, and developed two new risk scores using training data (80% sample): LRArev, which incorporated additional information on ethnic background, and LRAprs, which incorporated polygenic risk for type 2 diabetes. We assessed discriminative and reclassification performance in a test set (20% sample). Type 2 diabetes was ascertained using primary care, hospital inpatient and death registry records.
RESULTS
Over 10 years, 7,476 participants developed type 2 diabetes. The Harrell's C indexes were 0.796 (95% Confidence Interval [CI] 0.785, 0.806), 0.802 (95% CI 0.792, 0.813), and 0.829 (95% CI 0.820, 0.839) for the LRA, LRArev and LRAprs scores, respectively. The LRAprs score significantly improved the overall reclassification compared to the LRA (net reclassification index [NRI] = 0.033, 95% CI 0.015, 0.049) and LRArev (NRI = 0.040, 95% CI 0.024, 0.055) scores.
CONCLUSIONS
Polygenic risk moderately improved the performance of the existing LRA score for 10-year risk prediction of type 2 diabetes.
目的
我们评估了在预测 2 型糖尿病 10 年风险时，纳入民族背景和多基因风险信息是否能增强莱斯特风险评估（LRA）评分。
方法
本研究样本包括 202529 名年龄在 40-69 岁的英国生物库参与者。我们计算了 LRA 评分，并使用训练数据（80%的样本）开发了两个新的风险评分：LRArev，它纳入了民族背景的额外信息；LRAprs，它纳入了 2 型糖尿病的多基因风险。我们在测试集（20%的样本）中评估了区分和重新分类性能。2 型糖尿病是通过初级保健、住院和死亡登记记录确定的。
结果
在 10 年内，7476 名参与者发生了 2 型糖尿病。Harrell 的 C 指数分别为 0.796（95%置信区间[CI]0.785，0.806）、0.802（95%CI0.792，0.813）和 0.829（95%CI0.820，0.839），分别为 LRA、LRArev 和 LRAprs 评分。与 LRA（净重新分类指数[NRI]为 0.033，95%CI0.015，0.049）和 LRArev（NRI为 0.040，95%CI0.024，0.055）相比，LRAprs 评分显著提高了整体重新分类。
结论
多基因风险适度提高了现有的 LRA 评分对 2 型糖尿病 10 年风险预测的性能。
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