Study of XmnI polymorphism in 5 region of the apoAI gene in Iranian hyperlipidemic subjects

Several studies have demonstrated the relationship between polymorphisms in the ApoAI – CIII – AIV gene cluster and hyperlipidemia. This study was conducted to elucidate the association between polymorphism of ApoAI/XmnI and Iranian hyperlipidemic subjects. Total genomic DNA was prepared from seventy-six Iranian patient with primary hyperlipidemia and seventy-five normolipidemic subjects. The subjects in the control group were age- and sex-matched to the patients. Fragment of 392 bp for 5´ region of the apoAI gene (C-2500T) was amplified by polymerase chain reaction (PCR). In the hyperlipidemic group, the genotype frequency of X1X1, X1X2, X2X2 were 0.63, 0.24, 0.13, respectively. In the control group those were 0.81, 0.11 and 0.08, respectivley. There was a significant difference (p<0.05) between 2 groups. The rare allele (X2) was more frequent in hyperlipidemic group than in controls (p<0.01). Various genotypes of apoAI/XmnI had no significant effect on lipids or apoAI levels in hyperlipidemic group. The above results show that polymorphism ApoAI/XmnI is associated with hyperlipidemia in Iranian hyperlipidemic subjects. Therefore, our data confirmed the previously reported association between genetic polymorphism ApoAI/XmnI and hyperlipidemia.