CD247 基因多态性与中国汉族人群扩张型心肌病的相关性。

Polymorphisms of CD247 gene is associated with dilated cardiomyopathy in Chinese Han population.

机构信息

Department of Cardiology, West China Hospital of Sichuan University, 37 Guo Xue Xiang, Chengdu, 610041, China.

Department of Anesthesiology, West China Hospital of Sichuan University, Chengdu, 610041, China.

出版信息

BMC Cardiovasc Disord. 2024 Sep 12;24(1):487. doi: 10.1186/s12872-024-04160-y.

DOI:10.1186/s12872-024-04160-y

PMID:39261809

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11391773/

Abstract

BACKGROUND

Dilated cardiomyopathy (DCM) is a major cause of heart failure and heart transplantation. Recently, some studies have reported that the autoimmune response in myocardial cells might be related to the pathogenesis of DCM. The CD247 gene has been previously found to be involved in autoimmune disease. Therefore, our study aimed to clarify the hypothesis that there is a certain linkage between polymorphisms of the CD247 gene and the triggering of DCM risk.

METHODS

In the present study, two single nucleotide polymorphisms (SNPs) of the CD247 gene, rs12141731 and rs858543, were genotyped by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) in 355 DCM patients and 404 age- and sex-matched controls.

RESULTS

Pearson's chi-squared test for the CD247 gene revealed that SNP rs858543 (p = 0.001, OR = 0.72, 95% CI = (0.588-0.882), but not SNP rs12141731, was associated with DCM in the Chinese Han population. Haplotype analysis revealed that the CC haplotype was associated with increased DCM susceptibility, while CT was a protective haplotype. Cox multivariate survival analysis indicated that the rs858543 TT genotype (HR: 0.608, 95% CI = 0.402-0.921, p = 0.019) was an independent multivariate predictor for longer overall survival in DCM patients. CD247 mRNA expression levels were significantly decreased in DCM patients (p = 0.02).

CONCLUSIONS

Our study suggested that a polymorphism in the CD247 gene may be a risk factor for DCM in the Chinese Han population.

TRIAL REGISTRATION

ChiCTR2000029701.

摘要

背景

扩张型心肌病（DCM）是心力衰竭和心脏移植的主要原因。最近，一些研究报告称，心肌细胞中的自身免疫反应可能与 DCM 的发病机制有关。CD247 基因先前已被发现与自身免疫性疾病有关。因此，我们的研究旨在阐明 CD247 基因多态性与 DCM 风险触发之间存在一定关联的假设。

方法

在本研究中，通过聚合酶链反应-限制性片段长度多态性（PCR-RFLP）对 355 例 DCM 患者和 404 名年龄和性别匹配的对照中的 CD247 基因的两个单核苷酸多态性（SNP）rs12141731 和 rs858543 进行了基因分型。

结果

Pearson's chi-squared 检验显示，SNP rs858543（p=0.001，OR=0.72，95%CI=（0.588-0.882）），而不是 SNP rs12141731，与中国汉族人群的 DCM 相关。单体型分析显示，CC 单体型与增加的 DCM 易感性相关，而 CT 是保护性单体型。Cox 多变量生存分析表明，rs858543 TT 基因型（HR：0.608，95%CI=0.402-0.921，p=0.019）是 DCM 患者总生存期延长的独立多变量预测因子。DCM 患者的 CD247 mRNA 表达水平显著降低（p=0.02）。