The DEFB1 gene rs11362 A/G genetic variant is associated with risk of developing CAD: a case-control study.

IF 2.1 4区医学 Q3 CARDIAC & CARDIOVASCULAR SYSTEMS

Acta cardiologica Pub Date : 2024-08-01 Epub Date: 2024-07-08 DOI:10.1080/00015385.2024.2375487

Gilberto Vargas-Alarcón, Óscar Pérez-Méndez, Marco Antonio Martínez-Ríos, Irán Díaz-Santillán, Luis Ángel Morales-Villamil, Hilda Delgadillo-Rodríguez, Rosalinda Posadas-Sánchez, Julián Ramírez-Bello, José Manuel Fragoso

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引用次数: 0

Abstract

Background: In the present study, we evaluated whether DEFB1 gene polymorphisms are associated with the presence of coronary artery disease (CAD).

Methods: Two rs11362 A/G, and rs1800972 C/G gene polymorphisms of DEFB1 gene were genotyped by 5'exonuclease TaqMan assays in 219 patients with CAD and 522 control individuals.

Results: The distribution of rs1800972 C/G polymorphisms was similar in patients with CAD and healthy controls. Nonetheless, under the co-dominant, dominant, recessive, and additive models, the AA genotype of the rs11362 A/G polymorphism was associated with the risk of developing CAD (OR = 1.89 pC_Co-Dom = 0.041, OR = 1.46, pC_Dom = 0.034, OR = 1.69, pC_Res = 0.039, and OR = 1.37, pC_Add = 0.012, respectively). In addition, the linkage disequilibrium showed that the 'AG' haplotype was associated with an increased risk of developing CAD (OR = 1.23, p = 0.042). According, with the Genotype-Tissue Expression (GTEx) consortium data, the rs11362 AA genotype is associated with a low mRNA expression of the β-defensin-1 in tissues, such as artery aorta, artery coronary, heart left ventricle, and heart atrial appendage (p < 0.001).

Conclusion: This study demonstrates that rs11362 A/G polymorphism of the DEFB1 gene is involved in the risk of developing CAD, and with a low RNA expression of the β-defensin-1 in heart tissue.

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DEFB1 基因 rs11362 A/G 遗传变异与患 CAD 的风险有关：一项病例对照研究。

背景：本研究评估了 DEFB1 基因多态性是否与冠状动脉疾病（CAD）相关：本研究评估了 DEFB1 基因多态性是否与冠状动脉疾病（CAD）相关：方法：采用 5'exonuclease TaqMan 方法对 219 名 CAD 患者和 522 名对照者的 DEFB1 基因中的两个 rs11362 A/G 和 rs1800972 C/G 基因多态性进行基因分型：结果：rs1800972 C/G多态性在CAD患者和健康对照组中的分布相似。然而，在共显性、显性、隐性和加性模型下，rs11362 A/G 多态性的 AA 基因型与患 CAD 的风险相关（OR = 1.89 pCCo-Dom = 0.041、OR = 1.46、pCDom = 0.034、OR = 1.69、pCRes = 0.039 和 OR = 1.37、pCAdd = 0.012）。此外，连锁不平衡显示，"AG "单倍型与患 CAD 的风险增加有关（OR = 1.23，p = 0.042）。根据基因型-组织表达（GTEx）联盟的数据，rs11362 AA 基因型与主动脉、冠状动脉、心脏左心室和心脏房室附件等组织中β-防御素-1 mRNA的低表达相关（p 结论：rs11362 AA 基因型与β-防御素-1 mRNA的低表达相关：本研究表明，DEFB1 基因 rs11362 A/G 多态性与罹患 CAD 的风险有关，并与心脏组织中 β-defensin-1 的低 RNA 表达有关。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Acta cardiologica 医学-心血管系统

CiteScore

2.50

自引率

12.50%

发文量

115

审稿时长

2 months

期刊介绍： Acta Cardiologica is an international journal. It publishes bi-monthly original, peer-reviewed articles on all aspects of cardiovascular disease including observational studies, clinical trials, experimental investigations with clear clinical relevance and tutorials.