ACTA ENDOCRINOLOGICA (BUC)

Introduction. The functions of CD36 membrane receptor include removal of oxidized low-density lipoproteins from\r\nplasma. The aim of our study was to search association between the IVS3-6 C allele and hypercholesterolemia in overweight children.\r\nMaterial and Methods. The study groups comprised 55 Caucasian children with (33) and without hypercholesterolemia (22). Amplicons of exon 4 including\r\nfragments of introns 3 and 4 were studied using denaturing high-performance liquid chromatography (DHPLC).\r\nResults. Polymorphism detected by DHPLC was single nucleotide substitution in intron 3 (IVS3-6 T/C - rs3173798). The IVS3-6 T/C polymorphism is located in the\r\nregion encoding the oxidized LDL binding domain, at a conserved splice site. Total serum cholesterol concentrations were significantly lower in the IVS3-6 TC\r\nheterozygotes than in the TT patients. Furthermore we found tendency (p=0.06) to lower LDL-cholesterol level in IVS3-6 TC heterozygotes than in wild-type homozygotes.\r\nConclusion. The results of our preliminary study suggest that the IVS3-6 C allele of CD36 rs3173798 polymorphism\r\nmay be associated with lower serum total and LDL-cholesterol in overweight children diagnosed with hypercholesterolemia.