印度北部人群中一氧化氮合酶3（rs1799983）和二甲基精氨酸二甲胺水解酶2（rs805305）基因多态性与冠状动脉疾病的关联

Association of NOS3 (rs1799983) and DDAH2 (rs805305) Gene Polymorphisms With Coronary Artery Disease in the Northern Indian Cohort.

作者信息

Shiraz Rizvi S M, Mahdi Farzana, Dwivedi Jyoti, Mir Bashir Ahmad, Zaidi Zeashan H, Rajasekaran Namakkal Soorappan

机构信息

Biochemistry, Era's Lucknow Medical College and Hospital, Era University, Lucknow, IND.

Cardiology, Era's Lucknow Medical College and Hospital, Era University, Lucknow, IND.

出版信息

Cureus. 2025 Feb 24;17(2):e79546. doi: 10.7759/cureus.79546. eCollection 2025 Feb.

DOI:10.7759/cureus.79546

PMID:40144407

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11938321/

Abstract

INTRODUCTION AND OBJECTIVES

Nitric oxide synthase () and dimethylarginine dimethylaminohydrolase 2 () polymorphisms are associated with reduced nitric oxide (NO) synthesis and endothelial dysfunction, increasing the risk of cardiovascular disease (CVD). This study aimed to analyze the single nucleotide polymorphism (SNP) of the and genes and to identify their association with the risk of coronary artery disease (CAD).

MATERIALS AND METHODS

(rs1799983) and (rs805305) single nucleotide polymorphisms (SNPs) were analyzed in 148 ST-elevation myocardial infarction (STEMI) patients and 75 healthy subjects (control) using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Results were analyzed using descriptive statistics and summarized as mean ± standard deviation. Chi-square was used to determine the association between variables of interest.

RESULTS

The G894T SNP was significantly linked to STEMI risk (p=0.003), with the TT genotype (20.3%) and T allele (39.5%) more frequent in cases than controls. The TT genotype was strongly associated with increased STEMI risk (OR=4.33 (95% CI: 1.57-12.04), p < 0.0001). For the SNP, the GG genotype was more common in cases (30.4%) than in controls (20.0%), while the CC genotype was less frequent in cases (16.9%) compared to controls (28.0%) (p=0.026, OR=0.40 (95% CI: 0.17-0.90)).

CONCLUSION

These findings link the G894T polymorphism to heightened STEMI risk, particularly in patients with diabetes, and highlight the association of SNPs with CAD, emphasizing the prevalence of GG genotypes in STEMI cases.

摘要

引言与目的

一氧化氮合酶（）和二甲基精氨酸二甲胺水解酶2（）基因多态性与一氧化氮（NO）合成减少及内皮功能障碍相关，增加了心血管疾病（CVD）的风险。本研究旨在分析和基因的单核苷酸多态性（SNP），并确定它们与冠状动脉疾病（CAD）风险的关联。

材料与方法

采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）技术，对148例ST段抬高型心肌梗死（STEMI）患者和75例健康受试者（对照组）进行（rs1799983）和（rs805305）单核苷酸多态性（SNP）分析。结果采用描述性统计进行分析，并总结为均值±标准差。采用卡方检验确定感兴趣变量之间的关联。

结果

G894T SNP与STEMI风险显著相关（p = 0.003），病例组中TT基因型（20.3%）和T等位基因（39.5%）的频率高于对照组。TT基因型与STEMI风险增加密切相关（OR = 4.33（95%CI：1.57 - 12.04），p < 0.0001）。对于SNP，病例组中GG基因型（30.4%）比对照组（20.0%）更常见，而CC基因型在病例组（16.9%）中的频率低于对照组（28.0%）（p = 0.026，OR = 0.40（95%CI：0.17 - 0.90））。