Familial hypercholesterolemia in Tehran lipid and glucose study: A cross- sectional study

Abstract

bjective (s): Familial hypercholesterolemia (FH) is one of the most common hereditary disorders in lipid metabolism that is distinguished by high plasma concentrations of low-density lipoprotein cholesterol (LDL-C) and cholesterol, can be considered tendon xanthomas and raised risk of premature coronary heart disease (CHD). This study aimed to assess the association between rs2228671 polymorphisms in the LDLR gene with familial hypercholesterolemia in a sample of Tehran Lipid and Glucose Study. Methods: This was a cross-sectional study in order to examine the association between rs2228671 common polymorphism of LDL-R gene with FH. The study sample consisted of 15005 participants of Tehran Lipid and Glucose Study. Genomic samples of the cases were extracted and the polymorphism of the considered gene was determined by the Tetra Primer ARMS-PCR method. The findings were analyzed by SPSS, FBAT, PLINK, PROGENY and POWER MARKER. Results: In all 206 cases (in 22 families) were identified. The results showed that there was no significant association between rs2228671 and FH disease (P=0.70). The minor allele frequency of T allele measured was 0.1016. No individuals carrying TT genotype were found in this population. Conclusion: The findings indicated that cases with rs2228671 polymorphisms had lesser minor allele frequency compared with other alleles. It seems that the absence of TT genotype can indicate protective role of T allele against familial hypercholesterolemia and cardiovascular diseases.

Keywords

• familial hypercholesterolemia
• polymorphism rs2228671
• ldlr
• tlgs