Genetic risk score for risk prediction of diabetic nephropathy in Han Chinese type 2 diabetes patients
Genetic risk score for risk prediction of diabetic nephropathy in Han Chinese type 2 diabetes patients
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DOI：
10.1038/s41598-019-56400-3
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发表时间：
2019-12-27
影响因子：
4.6
通讯作者：
Lin, Cheng-Chieh
中科院分区：
文献类型：
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作者：
Liao, Li-Na;Li, Tsai-Chung;Lin, Cheng-Chieh
我们评估了遗传信息是否可以改善糖尿病肾病 (DN) 的风险预测，同时将易感性变异添加到具有中国汉族 2 型糖尿病患者传统危险因素的风险预测模型中。推导组和验证组分别包含 995 名（包括 246 名 DN 病例）和 519 名（包括 179 名 DN 病例）2 型糖尿病患者。根据我们之前的全基因组关联研究的结果，利用 DN 易感性变异构建了遗传风险评分 (GRS)。在推导集中，仅具有临床危险因素的模型、仅具有GRS的模型以及具有临床危险因素和GRS的模型的受试者工作特征（AUROC）曲线下面积（95% CI）分别为0.75（0.72-0.78）、0.64（0.60-0.68）和0.78（0.75-0.81）。在外部验证样本中，结合传统风险因素和GRS的模型的AUROC为0.70（0.65-0.74）。此外，当将 GRS 添加到一组临床风险因素的预测模型中时，净重分类改善率为 9.98% (P = 0.001)。该预测模型使我们能够确认 GRS 结合临床因素在预测 DN 风险中的重要性，并加强对高风险个体的识别，以对 DN 进行适当的干预管理。
We evaluated whether genetic information could offer improvement on risk prediction of diabetic nephropathy (DN) while adding susceptibility variants into a risk prediction model with conventional risk factors in Han Chinese type 2 diabetes patients. A total of 995 (including 246 DN cases) and 519 (including 179 DN cases) type 2 diabetes patients were included in derivation and validation sets, respectively. A genetic risk score (GRS) was constructed with DN susceptibility variants based on findings of our previous genome-wide association study. In derivation set, areas under the receiver operating characteristics (AUROC) curve (95% CI) for model with clinical risk factors only, model with GRS only, and model with clinical risk factors and GRS were 0.75 (0.72-0.78), 0.64 (0.60-0.68), and 0.78 (0.75-0.81), respectively. In external validation sample, AUROC for model combining conventional risk factors and GRS was 0.70 (0.65-0.74). Additionally, the net reclassification improvement was 9.98% (P = 0.001) when the GRS was added to the prediction model of a set of clinical risk factors. This prediction model enabled us to confirm the importance of GRS combined with clinical factors in predicting the risk of DN and enhanced identification of high-risk individuals for appropriate management of DN for intervention.