作为外周动脉疾病风险、严重程度和临床病程重要标记的血脂相关基因组定位。

IF 3.9 3区 医学 Q1 PATHOLOGY Expert Review of Molecular Diagnostics Pub Date : 2024-10-25 DOI:10.1080/14737159.2024.2421497
Sergey N Zhabin, Victor A Lazarenko, Iuliia E Azarova, Elena Yu Klyosova, Marina A Bykanova, Mikhail I Churnosov, Maria A Solodilova, Alexey V Polonikov
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引用次数: 0

摘要

背景:本研究调查了通过全基因组关联研究(GWAS)确定的脂质相关位点与外周动脉疾病(PAD)的风险、严重程度以及临床和实验室特征之间的关系:研究纳入了 1263 名无血缘关系的俄罗斯受试者,其中包括 620 名确诊为 PAD 的患者和 643 名健康对照者。使用 MassArray-4 系统对 13 个单核苷酸多态性(SNP)进行了基因分型:结果发现,多态性 rs1689800、rs55730499 和 rs881844 与 PAD 风险增加有关,而 SNP rs1883025、rs3136441、rs3764261 和 rs6065906 则对疾病有保护作用(Pperm ≤ 0.05)。rs1689800、rs217406、rs1883025 和 rs3136441 与吸烟对 PAD 风险有联合效应(Pperm ≤ 0.05)。多态性 rs55730499(beta = 0.124,Pperm = 0.04)、rs9987289(beta = 0.558,Pperm = 0.03)和 rs881844 beta = -0.171,Pperm = 0.03)与踝肱指数相关。在 SNPs 与具有临床意义的特征(包括疾病严重程度、坏疽风险、早期发病、血浆促凝血剂和致动脉粥样硬化脂质变化)之间发现了多种关联(Pperm ≤ 0.05):我们发现了与 PAD 易感性及疾病相关的临床和实验室特征相关的新型遗传标记物。已确定的生物标记物提高了与 PAD 风险和进展相关的预测性基因检测的潜力,促进了分子诊断与临床决策过程的整合。
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Lipid-associated GWAS loci as important markers of the risk, severity, and clinical course of peripheral artery disease.

Background: This study investigated the relationship between lipid-associated loci identified through genome-wide association studies (GWAS) and the risk of peripheral artery disease (PAD), its severity, as well as clinical and laboratory features.

Research design and methods: A study included 1263 unrelated Russian subjects, consisting of 620 patients diagnosed with PAD and 643 healthy controls. Thirteen single nucleotide polymorphisms (SNP) were genotyped using the MassArray-4 system.

Results: Polymorphisms rs1689800, rs55730499 and rs881844 were found to be associated with an increased risk of PAD, whereas SNPs rs1883025, rs3136441, rs3764261 and rs6065906 showed protective effects against disease (Pperm ≤ 0.05). SNPs rs1689800, rs217406, rs1883025, and rs3136441 exhibited combined effects with cigarette smoking on the PAD risk (Pperm ≤ 0.05). Polymorphisms rs55730499 (beta = 0.124, Pperm = 0.04), rs9987289 (beta = 0.558, Pperm = 0.03), and rs881844 beta = -0.171, Pperm = 0.03) correlated with the ankle-brachial index. Multiple associations have been found between the SNPs and clinically significant characteristics, including disease severity, risk of gangrene, early disease onset, plasma procoagulant and atherogenic lipid changes (Pperm ≤ 0.05).

Conclusions: We identified novel genetic markers associated with PAD susceptibility and disease-related clinical and laboratory features. The identified biomarkers enhance the potential for predictive genetic testing related to the risk and progression of PAD, facilitating the integration of molecular diagnostics into clinical decision-making processes.

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来源期刊
CiteScore
6.60
自引率
0.00%
发文量
71
审稿时长
1 months
期刊介绍: Expert Review of Molecular Diagnostics (ISSN 1473-7159) publishes expert reviews of the latest advancements in the field of molecular diagnostics including the detection and monitoring of the molecular causes of disease that are being translated into groundbreaking diagnostic and prognostic technologies to be used in the clinical diagnostic setting. Each issue of Expert Review of Molecular Diagnostics contains leading reviews on current and emerging topics relating to molecular diagnostics, subject to a rigorous peer review process; editorials discussing contentious issues in the field; diagnostic profiles featuring independent, expert evaluations of diagnostic tests; meeting reports of recent molecular diagnostics conferences and key paper evaluations featuring assessments of significant, recently published articles from specialists in molecular diagnostic therapy. Expert Review of Molecular Diagnostics provides the forum for reporting the critical advances being made in this ever-expanding field, as well as the major challenges ahead in their clinical implementation. The journal delivers this information in concise, at-a-glance article formats: invaluable to a time-constrained community.
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