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首页> 外文期刊>The Journal of rheumatology >Influence of the BsmI Polymorphism of the Vitamin D Receptor Gene on Rheumatoid Arthritis Clinical Activity.
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Influence of the BsmI Polymorphism of the Vitamin D Receptor Gene on Rheumatoid Arthritis Clinical Activity.

机译:维生素D受体基因的BsmI多态性对类风湿关节炎临床活性的影响。

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OBJECTIVE: The etiopathogenesis of rheumatoid arthritis (RA) is not fully known; vitamin D has been shown to have immunomodulatory effects and could be implicated in it. BsmI polymorphism of vitamin D receptor (VDR) gene is involved in the pathogenesis of osteoporosis in RA. We analyzed the effect of this polymorphism on clinical activity in 123 Spanish postmenopausal women with RA. METHODS: Patients with RA were enrolled consecutively during outpatient clinic visits. RA severity and activity measures were recorded and a blood sample was extracted. Genetic analysis was made by DNA extraction techniques, amplification by polymerase chain reaction, and restriction using endonuclease BsmI. RESULTS: Mean age of the patients was 62.9 +/- 8.4 years. The mean time of the evolution of RA was 12.5 +/- 7.3 years and mean time since menopause was 15.2 +/- 9.4 years. Seventy-six percent of the patients were rheumatoid factor-positive; mean Health Assessment Questionnaire (HAQ) score was 1.3 +/- 0.7; 92% of the patients had been treated with low-dose glucocorticoids. Twenty-eight patients (23%) had genotype BB, 48 (39%) Bb, and 47 (38%) bb. Patients with BB or Bb genotype had statistically significantly higher HAQ scores, erythrocyte sedimentation rate, current and accumulated dose of glucocorticoids, and number of disease modifying antirheumatic drugs taken, and lower serum hemoglobin and albumin than patients with bb genotype (p < 0.05). CONCLUSION: Among patients with RA, the bb genotype of the BsmI polymorphism of the VDR gene is associated with less severe disease.
机译:目的:类风湿关节炎(RA)的病因尚不完全清楚。维生素D已被证明具有免疫调节作用,并可能与之有关。维生素D受体(VDR)基因的BsmI多态性与RA骨质疏松的发病机理有关。我们分析了这种多态性对123名西班牙绝经后RA患者的临床活动的影响。方法:RA患者在门诊就诊期间连续入组。记录RA的严重程度和活动指标,并提取血液样本。通过DNA提取技术进行遗传分析,通过聚合酶链反应进行扩增,并使用核酸内切酶BsmI进行限制性酶切。结果:患者的平均年龄为62.9 +/- 8.4岁。 RA演变的平均时间为12.5 +/- 7.3年,绝经后的平均时间为15.2 +/- 9.4年。 76%的患者为类风湿因子阳性;健康评估问卷的平均得分为1.3 +/- 0.7; 92%的患者已接受小剂量糖皮质激素治疗。二十八名患者(23%)的基因型为BB,BB型为48(39%),BB型为47(38%)。具有BB或Bb基因型的患者与bb基因型患者相比,具有统计学上显着更高的HAQ评分,红细胞沉降率,糖皮质激素的当前和累积剂量以及服用的抗风湿药物的数量以及血清血红蛋白和白蛋白的降低(p <0.05)。结论:在RA患者中,VDR基因的BsmI多态性的bb基因型与病情较轻相关。

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