主要糖尿病血管并发症遗传背景的新见解。

IF 3.4 3区 医学 Q2 ENDOCRINOLOGY & METABOLISM Diabetology & Metabolic Syndrome Pub Date : 2024-10-07 DOI:10.1186/s13098-024-01473-y
Zuira Tariq, Salah Abusnana, Bashair M Mussa, Hala Zakaria
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引用次数: 0

摘要

背景:到 2045 年,预计全球将有 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,他们将面临更大的发病、死亡、视力丧失、肾功能衰竭和生活质量下降的风险。因此,仅凭临床变量和血糖控制并不能预测血管问题的发生。越来越多的研究表明,遗传易感性在糖尿病和糖尿病血管并发症的发病中具有重要作用:本文旨在回顾这些方法,缩小糖尿病及其后果的遗传发现范围,强调进一步发现基因组所需的文献空白: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和全基因组关联研究等方法,前者充斥着假阳性,后者受制于样本量小:结果:由于新型基因组学数据的发现,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基因研究结果数量增加了一倍多。利用基因分析来确定糖尿病患者是否最有可能患糖尿病血管并发症(DVC),可能有助于开发更准确的早期诊断生物标志物和定制护理计划:全基因组关联研究(GWAS)是一种在大型数据集中广泛评估单核苷酸多态性(SNP)的新方法。
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New insights on genetic background of major diabetic vascular complications.

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).

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来源期刊
Diabetology & Metabolic Syndrome
Diabetology & Metabolic Syndrome ENDOCRINOLOGY & METABOLISM-
CiteScore
6.20
自引率
0.00%
发文量
170
审稿时长
7.5 months
期刊介绍: Diabetology & Metabolic Syndrome publishes articles on all aspects of the pathophysiology of diabetes and metabolic syndrome. By publishing original material exploring any area of laboratory, animal or clinical research into diabetes and metabolic syndrome, the journal offers a high-visibility forum for new insights and discussions into the issues of importance to the relevant community.
期刊最新文献
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