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维生素 D 受体基因多态性与血清 25-羟维生素 D 水平与泛发性白癜风的关系。

The association of vitamin D receptor gene polymorphisms and serum 25-hydroxyvitamin D levels with generalized vitiligo.

机构信息

Department of Dermatology, Xijing Hospital, Fourth Military Medical University, Xi'an, China.

出版信息

Br J Dermatol. 2012 Oct;167(4):815-21. doi: 10.1111/j.1365-2133.2012.11132.x.

Abstract

BACKGROUND

Vitiligo is an acquired depigmentation autoimmune disorder that has been described as being associated with lower levels of 25-hydroxyvitamin D [25(OH)D]. Genetic variations within the vitamin D receptor (VDR) gene could lead to significant receptor dysfunction, and could further affect the formation of the biologically active 25(OH)D. Therefore, we hypothesized that VDR polymorphisms might be involved in vitiligo by affecting the formation of 25(OH)D.

OBJECTIVES

To evaluate the potential association between VDR polymorphisms and vitiligo susceptibility and the serum levels of 25(OH)D.

METHODS

We performed a hospital-based study of 749 patients with vitiligo and 763 matched controls. We investigated four VDR polymorphisms (FokI, BsmI, ApaI and TaqI) to determine whether they are associated with vitiligo susceptibility in the Chinese population. In addition, the levels of 25(OH)D were measured to evaluate possible associations between the VDR polymorphic variants and clinical and laboratory findings of vitiligo.

RESULTS

A significantly decreased risk of developing vitiligo was found to be associated with the BsmI-B, ApaI-A and TaqI-t alleles. According to the genotype distribution, 25(OH)D concentrations were significantly higher in patients carrying the FokI ff or ApaI AA genotypes compared with those carrying the FF or aa genotypes. Logistic regression analysis also showed a dose-response relationship between decreased risk of vitiligo and increased 25(OH)D levels in ApaI-A variant genotype carriers.

CONCLUSIONS

Our findings suggest that these VDR polymorphisms are associated with 25(OH)D levels and that there exists a genetic predisposition for vitiligo in the Chinese population.

摘要

背景

白癜风是一种获得性色素减退自身免疫性疾病,据描述与 25-羟维生素 D [25(OH)D]水平较低有关。维生素 D 受体 (VDR) 基因内的遗传变异可能导致受体功能显著障碍,并可能进一步影响生物活性 25(OH)D 的形成。因此,我们假设 VDR 多态性可能通过影响 25(OH)D 的形成而参与白癜风的发生。

目的

评估 VDR 多态性与白癜风易感性及血清 25(OH)D 水平之间的潜在关联。

方法

我们进行了一项基于医院的研究,纳入了 749 例白癜风患者和 763 名匹配对照。我们研究了四个 VDR 多态性(FokI、BsmI、ApaI 和 TaqI),以确定它们是否与中国人群中白癜风的易感性相关。此外,还测量了 25(OH)D 水平,以评估 VDR 多态性与白癜风的临床和实验室发现之间的可能关联。

结果

我们发现 BsmI-B、ApaI-A 和 TaqI-t 等位基因与发生白癜风的风险降低显著相关。根据基因型分布,与携带 FF 或 aa 基因型的患者相比,携带 FokI ff 或 ApaI AA 基因型的患者 25(OH)D 浓度显著升高。Logistic 回归分析还显示,ApaI-A 变异基因型携带者白癜风发病风险降低与 25(OH)D 水平升高之间存在剂量反应关系。

结论

我们的研究结果表明,这些 VDR 多态性与 25(OH)D 水平相关,并且在中国人群中存在白癜风的遗传易感性。

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