TITLE

IS INTRON 3 POLYMORPHISM OF CD36 GENE ASSOCIATED WITH HYPERCHOLESTEROLEMIA RISK IN OVERWEIGHT CHILDREN? A PRELIMINARY STUDY

AUTHOR(S)
Rac, M. E.; Garanty-Bogacka, B.; Kurzawski, G.; Safranow, K.; Jakubowska, K.; Rac, M.; Poncyljusz, W.; Chlubek, D.
PUB. DATE
April 2012
SOURCE
Acta Endocrinologica (1841-0987);Apr-Jun2012, Vol. 8 Issue 2, p215
SOURCE TYPE
Academic Journal
DOC. TYPE
Article
ABSTRACT
Introduction. The functions of CD36 membrane receptor include removal of oxidized low-density lipoproteins from plasma. The aim of our study was to search association between the IVS3-6 C allele and hypercholesterolemia in overweight children. Material and Methods. The study groups comprised 55 Caucasian children with (33) and without hypercholesterolemia (22). Amplicons of exon 4 including fragments of introns 3 and 4 were studied using denaturing high-performance liquid chromatography (DHPLC). Results. 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 region encoding the oxidized LDL binding domain, at a conserved splice site. Total serum cholesterol concentrations were significantly lower in the IVS3-6 TC heterozygotes 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. Conclusion. The results of our preliminary study suggest that the IVS3-6 C allele of CD36 rs3173798 polymorphism may be associated with lower serum total and LDL-cholesterol in overweight children diagnosed with hypercholesterolemia.
ACCESSION #
77415692

 

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