• Noelia Márquez Pete, Cristina Pérez Ramírez, María Del Mar Maldonado Montoro, Martínez MartínezFernandoFDepartment of Physical Chemistry, Faculty of Pharmacy, University of Granada, Granada, Spain., Fernando Fernández-Llimos, Antonio Sánchez Pozo, María Del Carmen Ramírez Tortosa, and Alberto Jiménez Morales.
• Pharmacy Service, Pharmacogenetics Unit, University Hospital Virgen de las Nieves, UGC Provincial de Farmacia de Granada, Granada, Spain.
• Arch Med Sci. 2024 Jan 1; 20 (5): 152915371529-1537.

IntroductionRheumatoid arthritis (RA) is a chronic inflammatory autoimmune disease of unknown etiology which causes progressive deterioration of the joints, leading to severe pain and functional disability. Vitamin D and its receptor (VDR) play a significant part in the onset of autoimmune diseases such as RA. The purpose of this study was to evaluate the association between VDR gene polymorphisms and risk of developing RA.Material And MethodsA retrospective study was performed, including 214 RA cases and 748 controls of Caucasian origin. FokI (rs2228570), BsmI (rs1544410), TaqI (rs731236), ApaI (rs7975232) and Cdx2 (rs11568820) gene polymorphisms were analyzed by TaqMan.ResultsThe recessive logistic regression model showed that the VDR FokI-AA genotype was associated with lower risk of RA (p = 0.0255; OR = 0.58; 95% CI: 0.35-0.92). No other genetic polymorphism showed any association with RA in any of the models tested. Haplotype analysis revealed that the haplotypes ACGAG (p = 0.033; OR = 1.62; 95% CI: 1.04-2.53) and GTGCA (p < 0.01; OR = 2.77; 95% CI: 1.53-4.98) for BsmI, Cdx2, FokI, ApaI and TaqI were associated with higher risk of RA.ConclusionsVDR FokI gene polymorphism showed a trend for risk of RA, taking into account the variables of gender, age and tobacco use, and preventing false positives. Among our patients we found no influence of VDR BsmI, TaqI, ApaI and Cdx2 on the risk of developing RA. However, haplotype analysis indicated that the haplotypes ACGAG and GTGCA were associated with higher risk of RA.Copyright: © 2021 Termedia & Banach.

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