冠状动脉疾病：5 个与疾病严重程度的血管造影指数相关的位点的关联研究。

Coronary Artery Disease: Association Study of 5 Loci with Angiographic Indices of Disease Severity.

机构信息

Department of Medical Genetics, Faculty of Medicine, Umm Al-Qura University, Makkah, KSA, Saudi Arabia.

Department of Clinical Pathology, Faculty of Medicine, Zagazig University, Egypt.

出版信息

Dis Markers. 2021 Jul 12;2021:5522539. doi: 10.1155/2021/5522539. eCollection 2021.

DOI:10.1155/2021/5522539

PMID:34336004

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8292076/

Abstract

BACKGROUND

Different common gene variants were related to coronary artery disease (CAD) in many studies. Yet, the relation of these loci to the severity of CAD is not completely elucidated.

METHODS

We enrolled 520 subjects (315 CAD cases and 205 controls). CAD presence and extension were assessed by coronary angiography (CAG). Genotyping of five SNPs (namely, rs2230806 (1051G > A) in ABCA1 on chromosome 9, rs2075291 (553G > T) in ApoA5 on chromosome 11, rs320 in LPL on chromosome 8 intron (T → G at position 481), rs10757278 (c.22114477A > G), and rs2383206 (c.22115026 A > G) on chromosome 9p21 locus) was performed by allele-specific PCR. The degree and site of arterial lesions were used to classify patients, tested for association with CAD severity, and related to allele dosage.

RESULTS

The polymorphisms rs2383206 and rs10757278 showed significant associations with 2- and 3-vessel coronary disease (p =0.003 and 0.006, respectively). The homozygous GG genotypes of rs10757278 was associated with higher frequency of left anterior descending (LAD), right coronary artery (RCA) and left circumflex (LCX) diseases (p =0.002, 0.016 and 0.002, respectively). The GG genotypes of rs2383206 were found in higher percentage in patients with left main (LM) trunk and left circumflex (LCX) diseases ( = 0.013 and 0.002, respectively).

CONCLUSION

SNPs rs10757278 and rs2383206 allele dosage could predict CAD severity in the Saudi Arab population.

摘要

背景

在许多研究中，不同的常见基因变异与冠状动脉疾病（CAD）有关。然而，这些基因座与 CAD 严重程度的关系尚未完全阐明。

方法

我们纳入了 520 名受试者（315 例 CAD 病例和 205 例对照）。通过冠状动脉造影（CAG）评估 CAD 的存在和程度。对 5 个 SNP（9 号染色体上的 ABCA1 中的 rs2230806（1051G>A）、11 号染色体上的 ApoA5 中的 rs2075291（553G>T）、8 号染色体内含子上的 LPL 中的 rs320（位置 481 处 T>G）、9p21 基因座上的 rs10757278（c.22114477A>G）和 rs2383206（c.22115026 A>G））进行等位基因特异性 PCR 检测。根据动脉病变的程度和部位对患者进行分类，检测与 CAD 严重程度的相关性，并与等位基因剂量相关。

结果

rs2383206 和 rs10757278 多态性与 2 支和 3 支冠状动脉疾病显著相关（p=0.003 和 0.006）。rs10757278 的纯合 GG 基因型与左前降支（LAD）、右冠状动脉（RCA）和左旋支（LCX）疾病的发生频率较高有关（p=0.002、0.016 和 0.002）。rs2383206 的 GG 基因型在左主干（LM）和左旋支（LCX）疾病患者中更为常见（=0.013 和 0.002）。