Abstract
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.