The missense variant rs11556924 in ZC3HC1 has a protective effect against the risk of peripheral artery disease in women
Background: Peripheral artery disease (PAD) is one of the most common forms of diseases of the peripheral vessels of the lower extremities. Taking into account the potential participation of polymorphic variants of the ZC3HC1 gene in the atherosclerotic process, realized through the regulation of smooth muscle cell proliferation, these DNA regions can be considered as genetic markers of predisposition to atherosclerosis. The aim of the study: To examine the association between single nucleotide polymorphisms (SNP) and the risk of coronary heart disease and susceptibility to PAD according to the Genome-wide association studies (GWAS). Materials and methods: The study involved 1278 subjects, including 630 patients with PAD and 648 healthy controls. Four SNPs (rs9818870, rs17087335, rs11556924, and rs9982601) were genotyped using the MassARRAY-4 system. Association analysis between PAD risk and SNPs was performed using an open-source whole-genome association analysis toolset (PLINK program v1.9). An adaptive permutation test (Pperm) was used to calculate the statistical significance of the associations. Results: The allele rs11556924-T (OR=0.81, 95%CI 0.69-0.95, Pperm=0.02) and genotype rs11556924-T/T (OR=0.60, 95%CI 0.43-0.82, Pperm=0,006) of ZC3HC1 were associated with a decreased risk of PAD. However, sex-stratified analysis showed that SNP rs11556924 was associated with a decreased disease risk exclusively in women (OR=0.56, 95% CI 0.39-0.81, Pperm = 0.002). It was also found that the SNP rs11556924 was associated with an increase in blood triglyceride levels in patients with PAD (β=0.131, Pperm=0.03). Other SNPs studied were associated with laboratory and instrumental parameters in patients (triglycerides, LDL, angiographic parameters). In particular, the rs9982601 polymorphism of MRPS6 was associated with atherosclerotic plaque formation in iliac arteries (Pperm = 0.001). Conclusion: This study is the first to establish that the rs11556924 polymorphism of the ZC3HC1 gene is a new genetic marker of susceptibility to peripheral artery disease and is characterized by a protective effect on disease risk in women
Zhabin SN, Lazarenko VA, Azarova IuE, et al. The missense variant rs11556924 in ZC3HC1 has a protective effect against the risk of peripheral artery disease in women. Research Results in Biomedicine. 2026;12(1):37-51. Russian. DOI: 10.18413/2658-6533-2026-12-1-0-3
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