The role of BsmI and FokI vitamin D receptor gene polymorphisms and serum 25-hydroxyvitamin D in Brazilian patients with systemic lupus erythematosus
The role of BsmI and FokI vitamin D receptor gene polymorphisms and serum 25-hydroxyvitamin D in Brazilian patients with systemic lupus erythematosus
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DOI：
10.1177/0961203311421798
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发表时间：
2012-01-01
期刊：
影响因子：
2.6
通讯作者：
Xavier, R. M.
中科院分区：
文献类型：
--
作者：
Monticielo, O. A.;Brenol, J. C. T.;Xavier, R. M.
维生素D缺乏症在系统性红斑狼疮（SLE）中有描述。维生素D受体（VDR）基因多态性与亚洲SLE患者相关。巴西人口的研究尚未实现。采用病例对照研究方法，对195例SLE患者和201例健康对照进行了BsmI和FokI VDR基因多态性与SLE易感性的研究。此外，在SLE患者中测量25-羟基维生素D [25（OH）D]，以评估与VDR多态性变体以及疾病的临床和实验室表达的可能关联。采用RFLP-PCR进行基因分型。用化学发光法测定25（OH）D。在欧洲来源的病例和对照组之间，BsmI和FokI多态性的基因型和等位基因频率没有统计学显著差异。SLE患者血清25（OH）D平均水平为25.51 ± 11.43ng/ml。根据基因型分布，与携带F/F基因型的患者相比，携带FokI f/f基因型的患者的25（OH）D浓度显著更高（31.6 +/- 14.1 ng/ml vs 23.0 +/- 9.2 ng/ml，p = 0.004），加强了其在VDR功能活性中的作用。这一特点可能会被认为是在未来的临床和实验研究，涉及维生素D的测量。因此，SLE患者维生素D理想水平的遗传特异性定义需要在未来的研究中建立。狼疮（2012）21，43-52。
Vitamin D deficiency has been described in systemic lupus erythematosus (SLE). BsmI VDR (vitamin D receptor) gene polymorphism was associated with SLE in Asian patients. Studies in Brazilian populations have not been realized. A case-control study with 195 SLE patients and 201 healthy controls was conducted to investigate the influence of BsmI and FokI VDR gene polymorphisms on susceptibility to SLE. In addition, 25-hydroxyvitamin D [25(OH) D] was measured in SLE patients to evaluate possible associations with VDR polymorphic variants and clinical and laboratory expressions of disease. Genotyping was performed by RFLP-PCR. The measurement of 25(OH) D was performed by chemiluminescence. There was no statistically significant difference in genotype and allelic frequencies of BsmI and FokI polymorphisms between European-derived cases and controls. The mean serum levels of 25(OH)D were 25.51 +/- 11.43 ng/ml in SLE patients. According to genotype distribution, 25(OH)D concentrations were significantly higher in patients carrying the FokI f/f genotype compared with patients carrying the F/F genotype (31.6 +/- 14.1 ng/ml versus 23.0 +/- 9.2 ng/ml, p = 0.004), reinforcing its role in the functional activity of VDR. This feature may be considered in future clinical and experimental studies involving vitamin D measurements. Therefore, genetic-specific definitions of ideal levels of vitamin D in SLE need to be established in future studies. Lupus (2012) 21, 43-52.