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首页> 外文期刊>The Journal of rheumatology >Association of low bone mass with vitamin d receptor gene and calcitonin receptor gene polymorphisms in juvenile idiopathic arthritis.
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Association of low bone mass with vitamin d receptor gene and calcitonin receptor gene polymorphisms in juvenile idiopathic arthritis.

机译:幼年特发性关节炎中低骨量与维生素D受体基因和降钙素受体基因多态性的关联。

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摘要

OBJECTIVE: To compare bone density with polymorphisms in the calcitonin receptor (CTR) and vitamin D receptor (VDR) genes in 50 patients with juvenile idiopathic arthritis and 80 matched controls. METHODS: Bone mineral density (BMD) was measured by dual energy x-ray absorptiometry at the lumbar spine. Genomic DNA was isolated from EDTA blood samples by standard procedures. Polymerase chain reaction was performed using genomic DNA and 100 pmol of each oligonucleotide primer for VDR and CTR genes. Products from genomic PCR were digested by Alu I enzyme for CTR polymorphism and Fok I enzyme for VDR polymorphism. RESULTS: In the total population, higher prevalence of CC genotype (41.5%) for the CTR gene and FF genotype (59.8%) for the VDR gene was found, in agreement with data for Caucasian populations. No significant differences in distribution of CTR and VDR genotypes were observed between patients and controls. However, patients with TT genotype had lumbar BMD (L-BMD) that was lower in comparison to those with CC genotype (p = 0.04). For VDR gene polymorphism, we observed that patients with ff genotype had lower L-BMD in comparison with FF genotype (p = 0.02). Patients with heterozygosity for the 2 genotypes showed intermediate L-BMD. The differences in L-BMD among these groups did not seem to be related to corticosteroid therapy. CONCLUSION: Our data suggest that patients with particular VDR and CTR genotypes may be at higher risk to lose bone mass.
机译:目的:比较50例青少年特发性关节炎患者和80例对照者的骨密度与降钙素受体(CTR)和维生素D受体(VDR)基因的多态性。方法:采用双能X线骨密度仪测量腰椎的骨矿物质密度(BMD)。通过标准程序从EDTA血样中分离基因组DNA。使用基因组DNA和100​​ pmol的每种VDR和CTR基因寡核苷酸引物进行聚合酶链反应。来自基因组PCR的产物被Alu I酶消化以实现CTR多态性,并被Fok I酶消化以实现VDR多态性。结果:在总人群中,CTR基因的CC基因型(41.5%)和VDR基因的FF基因型(59.8%)的患病率较高,与高加索人群的数据相符。在患者和对照之间未观察到CTR和VDR基因型分布的显着差异。但是,TT基因型患者的腰椎BMD(L-BMD)低于CC基因型患者(p = 0.04)。对于VDR基因多态性,我们观察到ff基因型患者的L-BMD低于FF基因型(p = 0.02)。具有2个基因型杂合性的患者显示为中间L-BMD。这些组之间的L-BMD差异似乎与糖皮质激素治疗无关。结论:我们的数据表明,具有特定VDR和CTR基因型的患者可能有较高的骨量丢失风险。

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