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关于主要糖尿病血管并发症遗传背景的新见解。

New insights on genetic background of major diabetic vascular complications.

作者信息

Tariq Zuira, Abusnana Salah, Mussa Bashair M, Zakaria Hala

机构信息

Diabetes and Endocrinology Department, University Hospital Sharjah, P.O. Box: 27272, Sharjah, United Arab Emirates.

College of Medicine, University of Sharjah, Sharjah, United Arab Emirates.

出版信息

Diabetol Metab Syndr. 2024 Oct 7;16(1):243. doi: 10.1186/s13098-024-01473-y.

Abstract

BACKGROUND

By 2045, it is expected that 693 million individuals worldwide will have diabetes and with greater risk of morbidity, mortality, loss of vision, renal failure, and a decreased quality of life due to the devastating effects of macro- and microvascular complications. As such, clinical variables and glycemic control alone cannot predict the onset of vascular problems. An increasing body of research points to the importance of genetic predisposition in the onset of both diabetes and diabetic vascular complications.

OBJECTIVES

Purpose of this article is to review these approaches and narrow down genetic findings for Diabetic Mellitus and its consequences, highlighting the gaps in the literature necessary to further genomic discovery.

MATERIAL AND METHODS

In the past, studies looking for genetic risk factors for diabetes complications relied on methods such as candidate gene studies, which were rife with false positives, and underpowered genome-wide association studies, which were constrained by small sample sizes.

RESULTS

The number of genetic findings for diabetes and diabetic complications has over doubled due to the discovery of novel genomics data, including bioinformatics and the aggregation of global cohort studies. Using genetic analysis to determine whether diabetes individuals are at the most risk for developing diabetic vascular complications (DVC) might lead to the development of more accurate early diagnostic biomarkers and the customization of care plans.

CONCLUSIONS

A newer method that uses extensive evaluation of single nucleotide polymorphisms (SNP) in big datasets is Genome-Wide Association Studies (GWAS).

摘要

背景

预计到2045年,全球将有6.93亿人患有糖尿病,由于大血管和微血管并发症的破坏性影响,他们患发病率、死亡率、失明、肾衰竭的风险更高,生活质量也会下降。因此,仅靠临床变量和血糖控制无法预测血管问题的发生。越来越多的研究指出遗传易感性在糖尿病和糖尿病血管并发症发病中的重要性。

目的

本文旨在回顾这些方法,缩小糖尿病及其后果的遗传研究结果范围,突出文献中进一步进行基因组发现所需的差距。

材料与方法

过去,寻找糖尿病并发症遗传风险因素的研究依赖于候选基因研究等方法,这些方法存在大量假阳性结果,以及样本量小而受限的全基因组关联研究,其效力不足。

结果

由于发现了新的基因组学数据,包括生物信息学和全球队列研究的汇总,糖尿病和糖尿病并发症的遗传研究结果数量增加了一倍多。利用遗传分析来确定糖尿病患者是否最易发生糖尿病血管并发症(DVC),可能会导致开发出更准确的早期诊断生物标志物并定制护理计划。

结论

一种在大型数据集中对单核苷酸多态性(SNP)进行广泛评估的新方法是全基因组关联研究(GWAS)。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9309/11457557/9fdb18f3b164/13098_2024_1473_Fig1_HTML.jpg

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