Abstract

Introduction: Changes in lipids and apo lipoproteins levels are considered a risk factor for cardiovascular disease. The APOAI-CIII-AIV gene cluster plays an important role in regulating of the metabolism and level of lipids. The aim of this study was to elucidate the associations of five single nucleotide polymorphisms in the Apo11q cluster gene with lipid levels. Materials and Methods: A cross-sectional study of 823 subjects (340 males and 483 females) from the Tehran Lipid and Glucose Study (TLGS) was performed. Anthropometrical and serum concentrations of TG, Chol, HDL, Apo AI, Apo AIV, Apo B, Apo CIII were measured. The segments of the APOAI-CIII-AIV gene cluster were amplified by PCR and the polymorphisms were revealed by RFLP using restriction enzymes. Results: Allele frequencies of each SNP did not differ significantly between males and females. Genotypes and alleles distributions were in Hardy-Weinberg equilibrium, except  for Apo AI (+83C>T). Results demonstrated a significant association between TG, HDL-C, HDL2, Apo AI and Apo B levels and the presence of some alleles in the polymorphisms studied. After haplotype analysis not only did the association between these variables and SNPs remain, but the levels of total cholesterol and LDL-C were also added. Conclusion: The results of the present study showed that in addition to environmental factors, genetic variations are also important in the regulation of the metabolism and level of lipids such as TG and HDL-C.