The impact of vitamin D receptor gene polymorphism (rs2228570) in osteoarthritis in Iraqi women

Abstract

BackgroundOsteoarthritis (OA) is a multifactorial skeletal disabling disease affecting the adult and older populations with a strong genetic predisposition. Vitamin D is an immune modulator that exerts effect through vitamin D receptor (VDR). Many studies suggest that polymorphisms of the VDR gene are related to OA. The aim of this article was to investigate whether VDR rs2228570 single nucleotide polymorphism (SNP) has a role in osteoarthritis development in a sample of Iraqi women. MethodForty-three healthy controls and forty-six osteoarthritic patients of the female gender were selected from Al-Hussain medical city and enrolled in this case-control study. DNA has been extracted, amplification refractory mutation system polymerase chain reaction (ARMS-PCR) has been used to genotype VDR rs2228570 SNP. ResultsThe homozygous mutant type (CC) of the rs2228570 (T/C) polymorphism of VDR gene increases the risk of OA when analyzed under the recessive model only (OR = 2.6, 95% CI; 1.1–6.14, p = 0.027). This result suggested a risk factor of more than two and a half for the mutant type carriers (CC) to develop OA compared to the healthy individuals. No significant differences were identified between OA patients and control groups for those with the wild type (TT) and heterozygous mutant type (TC) carriers (OR = 0.75, CI 95% = 0.17–3.35, p = 0.7) who examined under co-dominant model. ConclusionVitamin D receptor polymorphism (rs2228570) is related to the risk of osteoarthritis since rs2228570 polymorphism may restrict vitamin D from performing its anti-inflammatory effect by modifying the binding sites of vitamin D3.