Genetic association between vitamin D receptor gene and Saudi patients confirmed with Familial Hypercholesterolemia.

Introduction: Familial Hypercholesterolemia (FH) is a common condition caused by inherited genetic abnormalities. Inadequate clearance of the circulating low-density lipoproteins (LDL) is the primary cause of the excessive concentrations of LDL seen in FH patients. The relation with vitamin D deficiency and vitamin D receptor (VDR) gene is well documented in the Saudi Arabia.

Aim: The aim of this study was to investigate the role of molecular analysis studied between FH patients and fours polymorphisms associated with VDR gene in Saudi Population.

Methods: In this case-control study, 120 patients were selected, and 50 patients were confirmed as FH and 70 subjects were confirmed as healthy controls. Genotyping was performed with polymerase chain reaction followed by restriction fragment length polymorphism analysis using ApaI, BsmI, TaqI and FokI polymorphisms in the VDR gene.

Results: The current study results confirmed no association between clinical characteristics studied between FH cases and controls (p>0.05). Hardy Weinberg Equilibrium analysis was present in ApaI and FokI polymorphisms (p<0.05). Only ApaI (C vs A: OR-15.1 (95% CI:5.78-39.41); p<0.001; AC+CC vs AA: OR-6.59 (95% CI:2.42-17.95); p=0.0006) and BsmI (G vs A: OR-2.88 (95% CI:1.54-5.38); p=0.0006 and AG+GG vs AA: OR-3.79 (95% CI:1.72-8.35); p=0.0007) polymorphisms showed both allele and genotype association between FH patients and controls. ANOVA analysis confirmed that TG levels were associated (p=0.02) with combination of heterozygous and homozygous genotypes present in all four polymorphisms studied in this population.

Conclusion: ApaI and BsmI polymorphisms in the VDR gene showed association with FH patients in the Saudi Population.