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遗传风险评分可识别易患糖尿病肾病的高危人群:系统评价。

Genetic Risk Scores Identify People at High Risk of Developing Diabetic Kidney Disease: A Systematic Review.

机构信息

Department of Medicine, The University of Melbourne, Melbourne 3084, Australia.

Australian Centre for Accelerating Diabetes Innovations, The University of Melbourne, Melbourne 3000, Australia.

出版信息

J Clin Endocrinol Metab. 2024 Apr 19;109(5):1189-1197. doi: 10.1210/clinem/dgad704.

Abstract

CONTEXT

Diabetic kidney disease (DKD) is the leading cause of end-stage renal disease. Measures to prevent and treat DKD require better identification of patients most at risk. In this systematic review, we summarize the existing evidence of genetic risk scores (GRSs) and their utility for predicting DKD in people with type 1 or type 2 diabetes.

EVIDENCE ACQUISITION

We searched MEDLINE, Embase, Web of Science, and Cochrane Reviews in June 2022 to identify all existing and relevant literature. Main data items sought were study design, sample size, population, single nucleotide polymorphisms of interest, DKD-related outcomes, and relevant summary measures of result. The Critical Appraisal Skills Programme checklist was used to evaluate the methodological quality of studies.

EVIDENCE SYNTHESIS

We identified 400 citations of which 15 are included in this review. Overall, 7 studies had positive results, 5 had mixed results, and 3 had negative results. Most studies with the strongest methodological quality (n = 9) reported statistically significant and favourable findings of a GRS's association with at least 1 measure of DKD.

CONCLUSION

This systematic review presents evidence of the utility of GRSs to identify people with diabetes that are at high risk of developing DKD. In practice, a robust GRS could be used at the first clinical encounter with a person living with diabetes in order to stratify their risk of complications. Further prospective research is needed.

摘要

背景

糖尿病肾病(DKD)是终末期肾病的主要原因。预防和治疗 DKD 的措施需要更好地识别高危患者。在这项系统评价中,我们总结了现有的遗传风险评分(GRS)及其在预测 1 型或 2 型糖尿病患者 DKD 中的效用的证据。

证据获取

我们于 2022 年 6 月在 MEDLINE、Embase、Web of Science 和 Cochrane Reviews 中搜索了所有现有的相关文献。主要寻求的研究设计、样本量、人群、感兴趣的单核苷酸多态性、DKD 相关结局以及相关结果综合衡量指标。使用关键评估技能计划清单评估研究的方法学质量。

证据综合

我们共确定了 400 篇引文,其中有 15 篇被纳入本综述。总体而言,有 7 项研究结果为阳性,5 项研究结果为混合,3 项研究结果为阴性。具有最强方法学质量的大多数研究(n = 9)报告了 GRS 与至少 1 项 DKD 测量指标相关的统计学显著和有利发现。

结论

本系统评价提供了 GRS 用于识别患有糖尿病且 DKD 风险较高的人群的效用证据。在实践中,在首次与患有糖尿病的人接触时,可以使用可靠的 GRS 来对其并发症风险进行分层。需要进一步的前瞻性研究。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b6f2/11031242/9592433c7a2e/dgad704f1.jpg

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