天津医药

天津医药 ›› 2016, Vol. 44 ›› Issue (7): 887-891.doi: 10.11958/20150292

• 临床研究 • 上一篇    下一篇

雌激素受体基因多态性与黄褐斑发病的关系

白朝   

  1. 天津中医药研究院附属医院皮肤外科
  • 收稿日期:2015-11-06 修回日期:2016-02-29 出版日期:2016-07-15 发布日期:2016-07-15
  • 作者简介: 白朝（1969）， 男， 副主任医师， 博士， 主要从事色素性皮肤病及临床治疗方面研究

The relationship between the incidence of melasma with estrogen gene polymorphism

BAI Zhao   

  1. Skin Surgery, The Affiliated Hospital of Tianjin Traditional Chinese Medicine Research Institute of Traditional Chinese Medicine, Tianjin 300120, China
  • Received:2015-11-06 Revised:2016-02-29 Published:2016-07-15 Online:2016-07-15

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摘要： 目的：探讨雌激素基因多态性与黄褐斑发病关系。方法：选取56例黄褐斑眼袋整形术后患者（病例组）以及39例正常对照组人员，采用免疫组化检测不同雌激素受体表达，聚合酶反应-限制性片段长度多态性（PCR-RFLP）技术分析2组ERα基因 PvuⅡ和 XbaⅠ 酶切位点基因多态性及 ER β基因RsaⅠ和AluⅠ酶切位点基因多态性，探讨雌激素与黄褐斑发病严重评分的关系。结果：免疫组化显示，病例组部分真皮纤维细胞和血管内皮细胞ERα和ERβ呈阳性表达，而对照组则表达较弱；Spearman相关性分析显示， ERα与黄褐斑评分的关系（r=0.462，P=0.017）；ERβ与黄褐斑评分的关系（r=0.512，P=0.002）；ERα基因XbaⅠ基因型在2组中分布具有统计学差异（P<0.05），以xx基因型为参照，暴露于X等位基因（Xx+XX）的OR值为2.23（95%CI：1.41~3.89，P<0.05），ERβ基因AluⅠ基因型在两组中分布差异有统计学差异（P<0.05），以aa基因型为参照，暴露于A等位基因（AA+Aa）的OR值为1.58（95%CI：1.21~4.29，P<0.05），RsaⅠ基因型在2组中分布具有统计学差异（P<0.05），以rr基因型为参照，暴露于R等位基因（RR+Rr）的OR值为2.37（95%CI：1.19~6.33，P<0.05）。结论：黄褐斑的发病与ERα基因XbaⅠ基因型、ERβ基因AluⅠ、RsaⅠ基因型多态性有关，突变基因增加了黄褐斑发病的风险，其中Xx、Aa和RR基因型易患病。

关键词: 黑变病, 雌激素受体α, 雌激素受体β, 多态现象, 遗传, 黄褐斑

Abstract: Objective: To investigate the relationship between estrogen gene polymorphism and the incidence of melasma. Methods: 56 cases of chloasma blepharoplasty plastic surgery patients (case group) and 39 cases of normal control group of people with different estrogen receptor immunohistochemistry, polymerase reaction-restriction fragment length polymorphism (PCR -RFLP) technical Analysis two group of ERα gene PvuⅡ and XbaⅠ restriction site polymorphisms and RsaⅠ and AluⅠ restriction site polymorphism ERβ gene, investigate the incidence of estrogen and melasma serious relationship score. Results: Immunohistochemistry showed that part of the case group dermal fibroblasts and endothelial cells were positive for of ERα and ERβ, while the control group was weak ; Spearman correlation analysis showed that the relationship between ERα and melasma score (r = 0.462 , P = 0.017); the relationship between ERβ and melasma score (r = 0.512, P = 0.002); ERα gene XbaⅠ genotype distribution in the two groups was significant difference (P <0.05), with xx genotype reference exposure to X allele (Xx + XX) OR = 2.23 (95% CI: 1.41 ~ 3.89, P <0.05), ERβ gene AluⅠ genotypes were significantly different in the two groups difference (P <0.05 ), with aa genotype reference, exposed to the A allele (AA + Aa) OR = 1.58 (95% CI: 1.21 ~ 4.29, P <0.05), RsaⅠ genotype distribution in 2 groups were statistically difference (P <0.05), with reference rr genotype, exposure to R allele (RR + Rr) OR = 2.37 (95% CI: 1.19 ~ 6.33, P <0.05). Conclusion: The incidence of melasma XbaⅠ ERα gene genotype, ERβ gene AluⅠ, RsaⅠ genotype polymorphisms, gene mutations increase the risk of onset of melasma, where Xx, Aa and RR genotype susceptibility to diseases.

Key words: melanosis, estrogen receptor alpha, estrogen receptor beta, polymorphism, genetic, chloasma