Association study of PCSK9 SNPs (rs505151 & rs562556) and their haplotypes with CVDs in Indian population.

IF 1.2 4区医学 Q2 ANTHROPOLOGY

Annals of Human Biology Pub Date : 2023-02-01 DOI:10.1080/03014460.2023.2171121

Kiran Devi, Archna Bhargave, Imteyaz Ahmad, Anita Yadav, Ranjan Gupta

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引用次数: 0

Abstract

Background: Cardiovascular disease (CVD) has emerged as the most prevalent cause of death in India. Pro-protein Convertase Subtilisin/Kexin Type 9 (PCSK9) gene has been found to be associated with lipid levels and a biomarker for susceptibility of CVD.

Aim: To study the association of PCSK9 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), (p value = .0001), shows the risk of CVDs. However, rs562556 (I474V) variant was not found to be associated with clinical parameters and risk of CVDs (p value >.05). Out of four haplotypes, H3 (G-A) was found to be associated with the CVDs (OR- 3.137, p value = .0001).

Conclusion: This study concludes that G allele of rs505151 SNP (PCSK9) and the H3 (G-A) haplotype of rs505151 & rs562556 were found to be risk factors for CVDs in the Indian population.

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印度人群PCSK9 snp (rs505151和rss562556)及其单倍型与心血管疾病的相关性研究

背景:心血管疾病(CVD)已成为印度最普遍的死亡原因。前蛋白转化酶Subtilisin/Kexin 9型(PCSK9)基因被发现与血脂水平和CVD易感性的生物标志物相关。目的:研究印度人群PCSK9 snp rs505151和rss562556及其单倍型与心血管疾病的关系。对象与方法:本研究包括102例血管造影证实的心血管疾病患者和100名健康受试者。采用聚合酶链反应和限制性片段长度多态性(PCR-RFLP)方法研究其多态性。生化参数用酶法或自动分析仪分析。单倍型分析采用SHEsis软件。结果:优势遗传模型显示心血管疾病的风险，优势比(置信区间)为4.71 (2.59 ~ 8.5)，p值= 0.0001。然而，rs562556 (I474V)变异未发现与临床参数和心血管疾病风险相关(p值> 0.05)。在四种单倍型中，H3 (G-A)被发现与cvd相关(OR- 3.137, p值= 0.0001)。结论:本研究发现rs505151 SNP的G等位基因(PCSK9)和rs505151和rss562556的H3 (G- a)单倍型是印度人群心血管疾病的危险因素。

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

Annals of Human Biology 生物-公共卫生、环境卫生与职业卫生

CiteScore

3.40

自引率

5.90%

发文量

审稿时长

1 months

期刊介绍： Annals of Human Biology is an international, peer-reviewed journal published six times a year in electronic format. The journal reports investigations on the nature, development and causes of human variation, embracing the disciplines of human growth and development, human genetics, physical and biological anthropology, demography, environmental physiology, ecology, epidemiology and global health and ageing research.