雌激素受体-α基因多态性与白癜风相关性研究

Association between Estrogen Receptor-α Gene Polymorphism and Vitiligo

目的探讨雌激素受体-α（ER-α）基因多态性与白癜风的相关性。方法应用PER-RFLP分析技术，检测690例汉族白癜风患者和700例汉族对照者ER-α基因内含子1Pvu Ⅱ T／C和Xba Ⅰ A／G酶切位点基因多态性。结果白癜风组与对照组之间C／T基因型频率（P=0．000）差别有显著性意义，其C等位基因频率亦明显高于对照组（P=0．000，OR：1．33，95％CI：1．14～1．51）；女性患者C／T基因型频率（P=0．001）、C等位基因频率（P=0．002，OR：1．41，95％CI：1．13～1．75）亦明显高于女性对照组；男性患者和男性对照组C等位基因频率（P=0．043，OR：1．25，95％CI：1．01～1．56）差别有显著性意义；ER-α基因内含子1XbaⅠA／G酶切多态性男性患者G等位基因频率（P=0．040，OR：1．32，95％CI：1．01～1．71）明显高于男性对照组；其余各组间差别无显著性意义（P〉0，05）。结论ER-α基因Pvu Ⅱ酶切多态性与白癜风存在相关性，携带C等位基因的女性患者更易患白癜风。XbaⅠ酶切多态性可能与男性白癜风患者之间存在相关性。提示ER-α可能是白癜风患者易感性的备选因素。

Objective To study the association of estrogen receptor-or （ER-α） gene polymorphisms with vitiligo, Methods PCR-RFLP was used to study the ER-α polymorphisms in patients with vitiligo and healthy controls. Genotypes were determined and compared between the two groups and among the different types of vitiligo patients by analysing two polymorphic sites of the Pvu Ⅱ T / C （ rs 2 2 3 4 6 9 3 ） and Xba Ⅰ A / G （ rs 9 3 4 0 7 9 9 ） in intron l . Results Intron 1 Pvu Ⅱ C / T genotype distribution （ P = 0. 000） were significantly different between patients and controls,and C allele in Pvu Ⅱ was significantly more prevalent in vitiligo patients than that in the controls （P = 0.000, OR： 1.33,95% CI： 1.14 ～ 1.51 ）. Intron 1 Pvu Ⅱ C/T genotype distribution （ P = 0.001 ） and C allele frequency （P =0.002,OR：1. 41,95% CI：1. 13 ～ 1.75） were significantly different between female vitiligo patients and female controls. C allele frequency also showed difference between male vitiligo patients and male controls. C allele frequency of Xba Ⅰ A / G in intron 1 polymorphisms was more prevalent in male vitiligo patients than that in healthy controls （ P = 0. 040,OR：1.32,95% CI：1. 01 ～ 1.71 ）. Genotype distributions and allele frequencies were not significantly different between patients and controls in the rest. Conclusion We conclude that ER-ot polymorphism in the intron 1Pvu Ⅱ T/C region is associated with vitiligo,women with C allele are more easily subject to vitiligo. Xba Ⅰ polymorphism in ER-α gene intron l is possibly associated with susceptibility to male vitiligo patients in this study.