■多基因风险评分(PRS)是将最初的遗传发现与疾病风险评估中的临床应用联系起来的有价值的工具。然而,有限的研究探讨了PRS与妊娠期糖尿病(GDM)之间的关系,特别是在预测中国人群的GDM风险方面。
■评估PRS与GDM之间的关系,并探讨PRS对中国人群GDM风险的预测能力。
■进行了一项前瞻性队列研究,其中包括283例GDM和2258例非GDM病例,这些病例基于怀孕的人口统计学信息。在24-28周时使用口服葡萄糖耐量试验(OGTT)诊断GDM。使用来自逻辑回归的具有95%置信区间(CI)的比值比(ORs)评估PRS和GDM比值之间的关联强度。接收机工作特性曲线,净重新分类改进(NRI),并采用综合判别改进(IDI)来评估新模型在预测方面的改进。
■与对照组相比,患GDM的女性表现出更高的PRS(OR=2.01,95%CI=1.33-3.07)。PRS值与空腹血糖(FPG)呈正相关,葡萄糖负荷后1小时(1小时OGTT),和葡萄糖负荷后2小时(2小时OGTT)(所有p<0.05)。PRS的掺入导致曲线下面积的统计学显着改善(0.71,95%CI:0.66-0.75,p=0.024),并改善了辨别和分类(IDI:0.007,95%CI:0.003-0.012,p<0.001;NRI:0.258,95%CI:0.135-0.382,p<0.001)。
■这项研究强调了GDM的几率增加与更高的PRS值和GDM预测能力的适度改善相关。
UNASSIGNED: Polygenic risk scores (PRS) serve as valuable tools for connecting initial genetic discoveries with clinical applications in disease risk estimation. However, limited studies have explored the association between PRS and gestational diabetes mellitus (GDM), particularly in predicting GDM risk among Chinese populations.
UNASSIGNED: To evaluate the relationship between PRS and GDM and explore the predictive capability of PRS for GDM risk in a Chinese population.
UNASSIGNED: A prospective cohort study was conducted, which included 283 GDM and 2,258 non-GDM cases based on demographic information on pregnancies. GDM was diagnosed using the oral glucose tolerance test (OGTT) at 24-28 weeks. The strength of the association between PRS and GDM odds was assessed employing odds ratios (ORs) with 95% confidence intervals (CIs) derived from logistic regression. Receiver operating characteristic curves, net reclassification improvement (NRI), and integrated discrimination improvement (IDI) were employed to evaluate the improvement in prediction achieved by the new model.
UNASSIGNED: Women who developed GDM exhibited significantly higher PRS compared to control individuals (OR = 2.01, 95% CI = 1.33-3.07). The PRS value remained positively associated with fasting plasma glucose (FPG), 1-hour post-glucose load (1-h OGTT), and 2-hour post-glucose load (2-h OGTT) (all p < 0.05). The incorporation of PRS led to a statistically significant improvement in the area under the curve (0.71, 95% CI: 0.66-0.75, p = 0.024) and improved discrimination and classification (IDI: 0.007, 95% CI: 0.003-0.012, p < 0.001; NRI: 0.258, 95% CI: 0.135-0.382, p < 0.001).
UNASSIGNED: This study highlights the increased odds of GDM associated with higher PRS values and modest improvements in predictive capability for GDM.