LDLR gene variant rs688 TT genotype; genetic association with obesity in Familial Hypercholesterolemia patients

Abstract

The predominant genetic risk factor for familial hypercholesterolemia along with obesity is LDLR allele status. These receptors maintain cellular cholesterol homeostasis. For instance, a common SNP rs688 in different populations has been reported to be associated with elevatedplasma LDL, resulting in hypercholesterolemia. The potential role of variant rs688 with obesity in FH patients was observed. This is a case-control study with 120 blood samples of clinically diagnosed obese familial hypercholesterolemia patients by physicians and 120 healthy individuals’ blood samples were recruited for the study. Genomic DNA was extracted from blood samples. By using Tetra ARMS PCR, genotyping of LDLR rs688 (C>T) exon 12 gene variation was performed. Moreover, BMI, BP, and BSL of obese FH patients were alsoobtained; a chi-square test was performed on the obtained data to evaluate the association between rs688 and obese FH patients. Genotype CC, CT, and TT frequencies reported in the obese FH patients’ group were 0.33, 0.41, and 0.25, while in healthy individuals were 0.37, 0.41, and 0.21 respectively. Chi–square values showed a significant association with BMI, BP, and BSL. It was assessed that there is a 4% increased susceptibility of FH development along with obesity in individuals with TT genotype. So, for obese familial hypercholesterolemia, the LDLR rs688 C>T gene variation can be used as a predisposing genetic marker.