Imran Ali Khan
King Saud University, Saudi Arabia
Title: Association between familial hypercholesterolemia and the Q192R variant of the PON1 gene among a Saudi population
Biography
Biography: Imran Ali Khan
Abstract
The gene encoding paraoxonase 1 is PON1, and the Q192R polymorphism within this gene is consistently present in multiple metabolic diseases comprising familial hypercholesterolemia (FH). The R allele is associated with coronary artery disease, type 2 diabetes and gestational diabetes mellitus in a Saudi population. Therefore, we sought to determine the association between Q192R polymorphism and FH among Saudi population. We enrolled 200 subjects in our case-controlled study, including 100 FH patients and 100 control subjects. Epidemiological, clinical, and Q192R genotype data were obtained from all the subjects. Genotyping was accomplished using polymerase chain reaction-restriction fragment length polymorphism analysis followed by 3% agarose gel electrophoresis. The clinical characteristics of FH were positively associated with controls, and we observed a correlation for allele and genotype frequencies between the FH cases and controls (p < 0.05). Our findings provide strong evidence that the PON1 Q192R polymorphism is associated with FH in Saudi population we examined