Lack of association between PstI polymorphism in the 3 flanking region of the apolipoprotein AI gene and serum lipids levels in an Iranian population

ApoAI, is the main protein of HDL and its gene is a member of apoAI-CIII-AIV gene cluster on chromosome 11q23-q24. In some studies, association of PstI polymorphism with dyslipidemia has been reported. This study was designed to investigate the frequency of rare allele (P2) of apoAI gene PstI polymorphism and its association with serum lipids levels in an Iranian population (Semnan city).
In a case-control study genomic DNA was extracted from whole blood of 76 Iranian hyperlipidemic patients [total cholesterol (TC) > 200 mg/dL, triglyceride (TG) > 150 mg/dL] and 75 healthy control subjects (TC The frequencies of the PstI polymorphism minor allele (P2) were 22.14 and 14.7 in the case and control groups respectively (P>0.05). In the case group, patients with P2P2 genotype had lower serum HDL-c and apoAI, compared those with P1P1and P1P2 genotypes (P> 0.05).
Considerably, the presence of the rare P2 allele was not associated with lipid levels in the studied population. The association between the polymorphisms and dyslipidemia is quite complicated. We propose evaluation of PstI polymorphism with other polymorphic sites in the apoAI-CIII-AIV gene cluster