外周动脉疾病遗传学的系统回顾和荟萃分析

Q3 Medicine JVS-vascular science Pub Date : 2024-01-01 DOI:10.1016/j.jvssci.2023.100133
Cassius Iyad Ochoa Chaar MD, MS , Tanner Kim MD , Dana Alameddine MD , Andrew DeWan PhD , Raul Guzman MD , Alan Dardik MD, PhD , Holly K. Grossetta Nardini MLS , Joshua D. Wallach PhD , Iftikhar Kullo MD , Michael Murray MD
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引用次数: 0

摘要

背景外周动脉疾病(PAD)影响着全球 2 亿多人。人们对这种疾病的遗传学及其临床影响的认识在不断发展。本系统综述全面总结了与 PAD 诊断和进展相关的所有 DNA 变异研究,并对文献中重复的 DNA 变异进行了荟萃分析。其中包括候选基因和全基因组关联研究(GWAS)。对早期较小的 PAD 诊断候选基因研究中的 13 个变异进行了荟萃分析。有关 PAD 进展的文献有限,而且由于表征 PAD 的标准存在异质性,因此不可能进行荟萃分析。结果 共研究了 112 篇论文中的 231 个 DNA 变异与 PAD 诊断的关系。不同研究对 PAD 的定义和对照组的选择存在很大差异。全球基因组研究确定了 19 个与 PAD 诊断相关的变体,这些变体在几个大型患者队列中得到了重复。只有细胞间粘附分子-1(rs5498)、IL-6(rs1800795)和肝脂肪酶(rs2070895)的变异与 PAD 诊断有显著关联。结论诊断 PAD 的遗传学研究具有显著的异质性,但最近的 GWAS 发现了与该疾病相关的变异。需要开展更多关注 PAD 进展的研究,以确定有不良事件风险的患者,并制定可改善其预后的策略。
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Systematic review and meta-analysis of the genetics of peripheral arterial disease

Background

Peripheral artery disease (PAD) impacts more than 200 million people worldwide. The understanding of the genetics of the disease and its clinical implications continue to evolve. This systematic review provides a comprehensive summary of all DNA variants that have been studied in association with the diagnosis and progression of PAD, with a meta-analysis of the ones replicated in the literature.

Methods

A systematic review of all studies examining DNA variants associated with the diagnosis and progression of PAD was performed. Candidate gene and genome-wide association studies (GWAS) were included. A meta-analysis of 13 variants derived from earlier smaller candidate gene studies of the diagnosis of PAD was performed. The literature on the progression of PAD was limited, and a meta-analysis was not feasible because of the heterogeneity in the criteria used to characterize it.

Results

A total of 231 DNA variants in 112 papers were studied for the association with the diagnosis of PAD. There were significant variations in the definition of PAD and the selection of controls in the various studies. GWAS have established 19 variants associated with the diagnosis of PAD that were replicated in several large patient cohorts. Only variants in intercellular adhesion molecule-1 (rs5498), IL-6 (rs1800795), and hepatic lipase (rs2070895) showed significant association with the diagnosis of PAD. However, these variants were not noted in the published GWAS.

Conclusions

Genetic research in the diagnosis of PAD has significant heterogeneity, but recent GWAS have demonstrated variants consistently associated with the disease. More research focusing on the progression of PAD is needed to identify patients at risk of adverse events and develop strategies that would improve their outcomes.

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来源期刊
CiteScore
4.20
自引率
0.00%
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0
审稿时长
28 weeks
期刊最新文献
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