Márquez Pete Noelia, Pérez Ramírez Cristina, Maldonado Montoro María Del Mar, Martínez Martínez Fernando, Fernández-Llimos Fernando, Sánchez Pozo Antonio, Ramírez Tortosa María Del Carmen, Jiménez Morales Alberto
Pharmacy Service, Pharmacogenetics Unit, University Hospital Virgen de las Nieves, UGC Provincial de Farmacia de Granada, Granada, Spain.
Department of Social Pharmacy, Faculty of Pharmacy, University of Lisbon, Lisbon, Portugal.
Arch Med Sci. 2021 Mar 22;20(5):1529-1537. doi: 10.5114/aoms/116606. eCollection 2024.
Rheumatoid 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 gene polymorphisms and risk of developing RA.
A retrospective study was performed, including 214 RA cases and 748 controls of Caucasian origin. (rs2228570), (rs1544410), (rs731236), (rs7975232) and (rs11568820) gene polymorphisms were analyzed by TaqMan.
The recessive logistic regression model showed that the -AA genotype was associated with lower risk of RA ( = 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 ( = 0.033; OR = 1.62; 95% CI: 1.04-2.53) and GTGCA ( < 0.01; OR = 2.77; 95% CI: 1.53-4.98) for , , , and were associated with higher risk of RA.
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 , , and on the risk of developing RA. However, haplotype analysis indicated that the haplotypes ACGAG and GTGCA were associated with higher risk of RA.
类风湿关节炎（RA）是一种病因不明的慢性炎症性自身免疫性疾病，可导致关节进行性恶化，引起严重疼痛和功能障碍。维生素D及其受体（VDR）在诸如RA等自身免疫性疾病的发病中起重要作用。本研究的目的是评估基因多态性与患RA风险之间的关联。
进行了一项回顾性研究，纳入214例RA病例和748例白种人对照。通过TaqMan分析了（rs2228570）、（rs1544410）、（rs731236）、（rs7975232）和（rs11568820）基因多态性。
隐性逻辑回归模型显示，-AA基因型与较低的RA风险相关（=0.0255；OR=0.58；95%CI：0.35-0.92）。在任何测试模型中，其他基因多态性均未显示与RA有任何关联。单倍型分析显示，、、、和的单倍型ACGAG（=0.033；OR=1.62；95%CI：1.04-2.53）和GTGCA（<0.01；OR=2.77；95%CI：1.53-4.98）与较高的RA风险相关。
考虑到性别、年龄和吸烟等变量并防止假阳性，基因多态性显示出RA风险的一种趋势。在我们的患者中，我们未发现、、和对患RA风险有影响。然而，单倍型分析表明，单倍型ACGAG和GTGCA与较高的RA风险相关。
