C deletion of the SLC39A8 gene polymorphism (rs74650330) increases the risk of coronary artery disease in individuals with low LDL cholesterol levels

Abstract

Background: The genetic variant of SLC39A8 is associated with several cardiovascular disease risk factors, including body mass index, systolic blood pressure (SBP), diastolic blood pressure (DBP), N-terminal pro-B-type natriuretic peptide (NT-proBNP) and high-density lipoprotein cholesterol (HDL-C) levels. The present study aimed to investigate the association between the SLC39A8 SNPs rs13107325 and rs74650330 and CAD in the Han population in Jiangsu (China).Methods: Genotyping of these SNPs was performed in 258 patients with CAD and 170 healthy controls using the base-quenched probe technique. The association between rs74650330 and blood lipid and glucose profiles was investigated.Results: The rs13107325 polymorphism was not found in the 428 Chinese individuals enrolled in the current study. For rs74650330, individuals harboring the C allele had significantly higher HDL levels than those without this allele in the control group (P=0.039), while the opposite was true for LDL-C levels (P=0.046). Further analysis indicated that when LDL-C levels were lower than 2.365 mmol/L, subjects with C/del and del/del had a 7.293-fold increased risk of CAD compared with that of controls without the mutation (odds ratio: 7.293; 95% confidence interval: 0.953-55.79).Conclusions: The results obtained in the current study suggested that the rs74650330 polymorphism is associated with reduced HDL-C and elevated LDL-C levels in healthy individuals. When LDL-C levels were lower than 2.365 mmol/L, the C/del genotype significantly increased the risk of CAD in the Chinese Han population.