Association of the single-nucleotide polymorphism in the MFG-E8 gene with coronary heart disease in Chinese Han population

Coronary atherosclerosis narrows or occludes blood vessels, resulting in myocardial ischemia and hypoxia, which ultimately leads to coronary heart disease (CHD). The pathogenesis of CHD remains insufficiently elucidated. A widely accepted hypothesis is that various stimuli induce arterial intima injury, and atherosclerosis (AS)formation reflects the inflammatory-fibroproliferative response of the intima to such injury. Milk fat globule epidermal growth factor 8 (MFG-E8) is expressed in cells implicated in CHD development, including macrophages, endothelial cells, and vascular smooth muscle cells, suggestion it play a regulatory role in multiple key stages of AS progression (such as foam cell formation and plaque instability). However, theassociation between MFG-E8 gene polymorphisms and CHD susceptibility in humans remains unclear. This study aimed to investigate the relationship between serum MFG-E8 levels, MFG-E8 single nucleotide polymorphisms (SNPs), and CHD. Additionally, We genotyped tag SNPs to provide insights for future screening of high-risk CHD populations and the identification of novel therapeutic targets.The serum MFG-E8 concentration was significantly lower in the CHD group(n = 158) than in the control group (n = 183) (P < 0.001). The rs1878326 polymorphism showed no statistically significant association with CHD susceptibility (P > 0.05). The rs4945† (C > A, reverse complement equivalent to NCBI G > T) polymorphism in the MFG-E8 gene was associated with an increased risk of CHD (CA genotype vs.CC genotype: OR = 2.029, 95% CI: 1.229-3.349, P = 0.006; A allele vs. C allele: OR = 1.835, 95% CI: 1.153-2.921, P = 0.010). However, the rs4945 polymorphism did not significantly influence serum MFG-E8 levels. Our findings suggest that the CA genotype and A allele of the MFG-E8 rs4945 polymorphism are associated with an elevated CHD risk in a Chinese Han population. However, due to the limited sample size of the study, further studies are needed to validate these associations between MFG-E8 gene polymorphisms and CHD susceptibility.