The association of vitamin D receptor gene polymorphisms and serum 25-hydroxyvitamin D levels with generalized vitiligo
The association of vitamin D receptor gene polymorphisms and serum 25-hydroxyvitamin D levels with generalized vitiligo
复制标题
维生素D受体基因多态性及血清25-羟基维生素D水平与全身性白癜风的关系
DOI：
10.1111/j.1365-2133.2012.11132.x
复制
发表时间：
2012-10-01
影响因子：
10.3
通讯作者：
Gao, T-W
中科院分区：
文献类型：
--
作者：
Li, K.;Shi, Q.;Gao, T-W
背景白癜风是一种获得性色素脱失的自身免疫性疾病，被认为与低水平的25-羟基维生素D[25(OH)D]有关。维生素D受体(VDR)基因的遗传变异可导致显著的受体功能障碍，并可能进一步影响生物活性的25(OH)D的形成。因此，我们推测VDR基因多态可能通过影响25(OH)D的形成而参与白癜风的形成。目的探讨VDR基因多态性与白癜风易感性及血清25(OH)D水平的关系。我们调查了4个VDR基因(FokI、BsmI、Apai和TaqI)，以确定它们是否与中国人白癜风易感性有关。结果BsmI-B、Apai-A和TaqI-t等位基因显著降低了白癜风的发病风险。根据基因分布，携带Fokiff或Apai AA基因的患者25(OH)D浓度显著高于携带Ff或AA基因的患者。Logistic回归分析还显示，ApaI-A变异型携带者患白癜风的风险降低与25(OH)D水平升高之间存在剂量-反应关系。结论VDR基因多态与25(OH)D水平相关，提示中国人群存在白癜风的遗传易感性。
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.