Novel polymorphisms in promoter region of Paraoxonase 1 gene: correlation with Paraoxonase 1 activity.

摘要

Indians have normal HDL levels and yet a high risk of cardiovascular diseases (CVD). The cardio protective functions of HDL are attributed to the HDL-assocd. proteins like Paraoxonase 1 (PON1). PON1 is assocd. with HDL through an N-terminal signal peptide, and HDL-assocd. PON alone is cardio protective. In this study we investigated polymorphisms in the first exon of PON1, if any and correlate it with PON1 activity in the blood. For this study 256 individuals were chosen. Whole blood was collected, plasma and cells were sepd. Plasma was used for PON1 activity detn. and lipid anal. Cells were used for DNA extn. DNA was sequenced from -1246 to +203 of the PON1 gene. In this study, nine single nucleotide polymorphisms (SNPs) were identified of which three were new SNPs. In the novel SNPs two were present in the 5' flanking region of the putative mRNA for the protein. But no SNPs were found in the first exon. The novel polymorphisms correlated with low PON activity. The frequency of the high activity phenotype was rare in the study sample. Our results show that the low PON active phenotype was predominant in the population and the high PON active phenotype was rare. [on SciFinder(R)]