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

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

Chunmei Li  1 , XiaoChuan Xie  1 , Kun Li  2 , Li Rao  3
Affiliations

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

Chunmei Li et al. BMC Cardiovasc Disord. .

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.

Keywords: CD247; Dilated cardiomyopathy; Genetic polymorphisms.

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Conflict of interest statement

The authors declare no competing interests.

Figures

Fig. 1
Fig. 1
a Genotyping of CD247 gene rs12141731 SNP site after HincII digestion. (The 16 bp fragment has run out of the swimming lane due to its too small.) b Genotyping of CD247 gene rs858543 SNP site after MboI digestion. (The 34 bp fragment has run out of the swimming lane due to its too small)
Fig. 2
Fig. 2
Kaplan–Meier survival curves free of cardiac death for 175 DCM patients based on rs12141731 and rs858543
Fig. 3
Fig. 3
aCD247 mRNA expression was significantly decreased in DCM blood samples (p = 0.02). b No significant relationship was found between CD247 mRNA expression and polymorphism of rs12141731 in DCM samples(p = 0.701). c No significant relationship was found between CD247 mRNA expression and polymorphism of rs858543 in DCM samples(p = 0.242). p value was calculated by Mann–Whitney and Kruskal–Wallis test on log-transformed values
See this image and copyright information in PMC

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