Association Between MspI Polymorphisms of the Apolipoprotein A-I Gene and Hyperlipidemia in an Iranian Population

Abstract

Background: One of the most important metabolic disorders is hyperlipidemia. ApoAI protein plays an important role in lipoprotein metabolism. In this study, the association between MspI polymorphisms in the promoter (G-75A) and first intron (C83T) of the apoAI gene and hyperlipidemia was investigated in Semnan, Iran. Methods: A total of 151 unrelated subjects were divided into two groups: the hyperlipidemic (N = 75) and control (N = 76) groups. Genotyping was carried out by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Results: In the hyperlipidemic group, the frequency of the (+−) variant of the MspI (C83T) locus was higher than that in the control group (P < 0.05). Significant differences were found in serum HDL-C and apoAI levels between different genotypes of MspI (C83T) (P < 0.001 and P = 0.02, respectively). In the hyperlipidemic group, the odds ratios for the (+−) and (−−) genotypes of the MspI (C83T) locus in comparison to that for the (++) genotype were 0.26 (P= 0.023) and 3.62 (P = 0.254), respectively. The allelic frequency at the (G-75A) locus was not significantly different in the hyperlipidemic and control groups (P = 0.36). The serum levels of lipid and lipoprotein were not significantly different for all genotypes of MspI (G-75A). The AA/++ and GG/−− haplotypes had the lowest and highest apoB/apoAI ratios, respectively (0.73 ± 0.03 vs. 1.9). Conclusions: The presence of (+) and A alleles in the apoAI (C83T) and (G-75A) haplotypes in the Semnan population may be protective against cardiovascular disease.