碳水化合物和脂肪代谢一些候选基因的单核苷酸多态性在预测2型糖尿病风险中的作用

F. Valeeva, K. B. Khasanova, E. Valeeva, T. Kiseleva, D. R. Islamova
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引用次数: 0

摘要

在过去的十年中,在鉴定和表征与2型糖尿病(T2DM)易感性相关的基因DNA多态性变异方面取得了一些进展。基因多态性分析结合社会人口学、临床和代谢参数可以被认为是确定T2DM发展高危人群的一种有前途的方法。本综述包括2006年至2021年期间发表的关于单核苷酸多态性的T2DM风险预测模型的国内外研究。文献来源的检索在PubMed平台上进行。通过比较曲线下面积(AUC)来评估多基因风险评分的预测准确性。最常用的T2DM风险临床预测因子是性别、年龄、BMI、糖尿病家族史、是否存在动脉高血压、腰围、腰臀比。所有T2DM遗传风险模型的AUC值均低于表型(临床)风险模型。在许多研究中,与纯粹的临床风险模型相比,遗传因素的加入改善了AUC,这可能是T2DM一级预防的有用工具。然而,只有那些在不同人群研究中强烈证实与2型糖尿病风险相关的多态性才应该被添加到预测风险量表中。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
The role of single-nucleotide polymorphisms of some candidate genes of carbohydrate and fat metabolism in predicting the risk of type 2 diabetes mellitus
Over the past decade, some progress has been made in identifying and characterizing variants of DNA polymorphisms of genes associated with predisposition to type 2 diabetes mellitus (T2DM). The analysis of gene polymorphisms in combination with socio-demographic, clinical and metabolic parameters can be considered as a promising approach to identify high-risk groups for the development of T2DM. The review includes foreign and domestic studies of predictive models for the risk of developing T2DM comprising single-nucleotide polymorphisms, published in the period from 2006 to 2021. The search for the literature sources was carried out on the PubMed platform. The predictive accuracy of polygenic risk scores was assessed by comparing the area under the curve (AUC). The most commonly used clinical predictors of T2DM risk are sex, age, BMI, family history of diabetes, presence of arterial hypertension, waist circumference, waist-to-hip ratio. All genetic risk models for T2DM had lower AUC values than phenotypic (clinical) risk models. The addition of genetic factors has, in turn, improved AUC compared to purely clinical risk models in many studies, which may be a useful tool for primary prevention of T2DM. However, only those polymorphisms that strongly confirm their association with the risk of developing T2DM in different populations studies should be added to predictive risk scales.
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