Departments of Genetics, Instituto Nacional de Rehabilitación "Luis Guillermo Ibarra Ibarra", Calzada México-Xochimilco No. 289, Arenal Guadalupe, Tlalpan, CP 14389, México City, Mexico.
Departments of Radiology, Instituto Nacional de Rehabilitación "Luis Guillermo Ibarra Ibarra", Calzada México-Xochimilco No. 289, Arenal Guadalupe, Tlalpan, CP 14389, México City, Mexico.
Adv Rheumatol. 2018 May 24;58(1):6. doi: 10.1186/s42358-018-0002-3.
Primary Osteoarthritis (OA) of the knee is a multifactorial disease that has an important genetic component, and several genes have been associated with its development. The vitamin D receptor has a role in skeletal metabolism that suggests a relationship with OA. The aim of this study was to analyze the association of Vitamin D receptor gene (VDR) polymorphisms in Mexican Mestizo patients.
A case-control study was conducted in which 107 cases with primary OA of the knee and 114 controls were included. Cases were patients > 40 years of age with a Body mass index (BMI) of ≤27 and a radiological score for OA of the knee of ≥2. Controls were subjects > 40 years of age with a radiological score of < 2. VDR polymorphisms rs1544410, rs7975232, and rs731236 were analyzed by means of restriction endonucleases, and logistic regression was developed to evaluate risk magnitude.
A significantly increased risk was found of nearly two-fold for the allele T and TT genotypes of rs731236, independently of other well recognized risk factors.
The rs731236 polymorphism is associated with the risk of primary OA of the knee in Mexican Mestizo population.
膝关节原发性骨关节炎（OA）是一种多因素疾病，具有重要的遗传成分，已有多个基因与该病的发生相关。维生素 D 受体在骨骼代谢中发挥作用，这表明其与 OA 之间存在关联。本研究旨在分析墨西哥梅斯蒂索人膝关节原发性 OA 患者维生素 D 受体基因（VDR）多态性的相关性。
进行了一项病例对照研究，共纳入 107 例膝关节原发性 OA 患者和 114 例对照。病例为年龄>40 岁、BMI≤27 和膝关节 OA 放射评分≥2 的患者。对照为年龄>40 岁、放射评分<2 的受试者。VDR 多态性 rs1544410、rs7975232 和 rs731236 通过限制性内切酶进行分析，并通过逻辑回归评估风险程度。
rs731236 的等位基因 T 和 TT 基因型与原发性 OA 风险增加近两倍相关，独立于其他公认的危险因素。
rs731236 多态性与墨西哥梅斯蒂索人群膝关节原发性 OA 的发病风险相关。
