单核苷酸多态性（rs505151 和 rs562556）及其单倍型与印度人群心血管疾病的关联研究。

Association study of SNPs (rs505151 & rs562556) and their haplotypes with CVDs in Indian population.

机构信息

Department of Biochemistry, Kurukukshetra University, Kurukshetra, India.

Department of Biotechnology, Kurukukshetra University, Kurukshetra, India.

出版信息

Ann Hum Biol. 2023 Feb;50(1):56-62. doi: 10.1080/03014460.2023.2171121.

DOI:10.1080/03014460.2023.2171121

PMID:36695028

Abstract

BACKGROUND

Cardiovascular disease (CVD) has emerged as the most prevalent cause of death in India. Pro-protein Convertase Subtilisin/Kexin Type 9 ( gene has been found to be associated with lipid levels and a biomarker for susceptibility of CVD.

AIM

To study the association of SNPs rs505151 & rs562556 and their haplotypes with CVDs in the Indian population.

SUBJECTS & METHODS: The present study comprised of 102 angiographically proven CVD patients & 100 healthy subjects. To study polymorphism, Polymerase Chain Reaction and Restriction Fragment Length Polymorphism (PCR-RFLP) method was used. Biochemical parameters were analysed by enzymatic methods or automated analysers. Haplotype analysis was done using SHEsis software.

RESULTS

The dominant genetic model with an odds ratio (confidence interval) of 4.71 (2.59 - 8.5), ( value = .0001), shows the risk of CVDs. However, rs562556 (I474V) variant was not found to be associated with clinical parameters and risk of CVDs ( value >.05). Out of four haplotypes, H3 (G-A) was found to be associated with the CVDs (OR- 3.137, value = .0001).

CONCLUSION

This study concludes that G allele of rs505151 SNP ( and the H3 (G-A) haplotype of rs505151 & rs562556 were found to be risk factors for CVDs in the Indian population.

摘要

背景

心血管疾病（CVD）已成为印度最常见的死亡原因。前蛋白转化酶枯草溶菌素/克那霉 9（PCSK9）基因已被发现与血脂水平有关，是 CVD 易感性的生物标志物。

目的

研究印度人群中 SNP rs505151 和 rs562556 及其单倍型与 CVD 的关系。

受试者和方法

本研究包括 102 例经血管造影证实的 CVD 患者和 100 例健康对照者。为了研究多态性，采用聚合酶链反应和限制性片段长度多态性（PCR-RFLP）方法。生化参数采用酶法或自动分析仪进行分析。使用 SHEsis 软件进行单倍型分析。

结果

具有优势遗传模型的 SNP rs505151（OR 为 4.71，95%置信区间为 2.59-8.5，值为.0001）显示 CVD 的风险增加。然而，rs562556（I474V）变异与临床参数和 CVD 风险无关（值>.05）。在四个单倍型中，发现 H3（G-A）与 CVD 相关（OR 为 3.137，值为.0001）。