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希腊西北部多发性硬化症患者的维生素D受体基因多态性

Vitamin D receptor gene polymorphisms in multiple sclerosis patients in northwest Greece.

作者信息

Sioka Chrissa, Papakonstantinou Stylianos, Markoula Sofia, Gkartziou Foteini, Georgiou Athanasia, Georgiou Ioannis, Pelidou Sygliti-Henrietta, Kyritsis Athanassios P, Fotopoulos Andreas

机构信息

Department of Nuclear Medicine, University Hospital of Ioannina, Ioannina, Greece.

出版信息

J Negat Results Biomed. 2011 May 5;10:3. doi: 10.1186/1477-5751-10-3.

Abstract

BACKGROUND

Polymorphisms of the vitamin D receptor (VDR) gene have been linked to both multiple sclerosis (MS) and osteoporosis. We examined the frequency of the Taq-I and Bsm-I polymorphisms of the vitamin D receptor (VDR) gene in 69 patients with MS and 81 age and sex-matched healthy individuals. Genotyping of Taq-I (rs731236) and Bsm-I (rs1544410) was performed using TaqMan SNP Genotyping Assay. All patients and controls had determination of body mass index (BMI), bone mineral density (BMD) and smoking history.

RESULTS

The mean age of patients was 39 ± 10.5 years compared to 38.7 ± 10.7 years of the controls (p = 0.86), the BMI was 24.8 ± 4.2 kg/m2 compared to 25.7 ± 4.8 kg/m2 of the controls (p = 0.23), the BMD in the lumbar spine 0.981 ± 0.15 compared to 1.025 ± 013 of the controls (p = 0.06) and the total hip BMD was 0.875 ± 0.14 compared to 0.969 ± 0.12 of the controls (p < 0.001). There were no differences of the Taq-I (TT, CT, CC) and Bsm-I genotypes (GG, GA, AA) and allelic frequencies between MS and control individuals. Multivariate analysis also failed to show any association of the Taq-I and Bsm-I polymorphisms and MS or sex, BMI, BMD and smoking history.

CONCLUSIONS

This study suggests that the Taq-I and Bsm-I polymorphisms of the VDR gene are not associated with MS risk, BMI or BMD in the Greek population studied.

摘要

背景

维生素D受体(VDR)基因多态性与多发性硬化症(MS)和骨质疏松症均有关联。我们检测了69例MS患者以及81例年龄和性别相匹配的健康个体中维生素D受体(VDR)基因的Taq-I和Bsm-I多态性频率。采用TaqMan SNP基因分型检测法对Taq-I(rs731236)和Bsm-I(rs1544410)进行基因分型。所有患者和对照者均测定了体重指数(BMI)、骨密度(BMD)和吸烟史。

结果

患者的平均年龄为39±10.5岁,对照者为38.7±10.7岁(p = 0.86);BMI为24.8±4.2kg/m²,对照者为25.7±4.8kg/m²(p = 0.23);腰椎BMD为0.981±0.15,对照者为1.025±0.13(p = 0.06);全髋部BMD为0.875±0.14,对照者为0.969±0.12(p < 0.001)。MS患者与对照个体之间的Taq-I(TT、CT、CC)和Bsm-I基因型(GG、GA、AA)及等位基因频率无差异。多变量分析也未显示Taq-I和Bsm-I多态性与MS或性别、BMI、BMD及吸烟史之间存在任何关联。

结论

本研究提示,在所研究的希腊人群中,VDR基因的Taq-I和Bsm-I多态性与MS风险、BMI或BMD无关。

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