Missense FokI variant in the vitamin D receptor gene in primary knee osteoarthritis patients in south Indian population

Abstract

Osteoarthritis (OA) is a common and multifactorial skeletal disabling disease in the adult/elder population. Vitamin D was involved with multiple diseases including OA. Based on the prior studies, the single nucleotide polymorphism in the vitamin D receptor (VDR) gene might be a risk factor for the development of autoimmune diseases. However, we aimed to investigate whether FokI polymorphism and serum vitamin D levels are in association with primary knee OA in south Indian population. In this case–control study we have selected 100 OA cases and 100 healthy controls from Kamineni Hospitals in Telangana and India. The collected blood samples were used for estimation of serum vitamin D levels and isolation of genomic DNA. PCR was carried out with specific primers. The FokI enzyme was used to perform RFLP and followed by electrophoresis and analysis. The clinical data has been calculated separately between the OA cases and controls. The biochemical analysis performed with ELISA method revealed that 44% of cases were vitamin D deficient, 28% had in sufficient vitamin D levels and 28% had sufficient vitamin D levels. We have performed the statistical analysis between the OA cases and controls and we could not find any significant association either with allele and genotype frequencies (p>0.05). The gender association analysis also failed to disclose the significant difference between males and females (p>0.05). The results of our present study concludethat genetic missense variant of FokI in VDR gene does not associate with primary knee OA in the south Indian population.