中华皮肤科杂志 ›› 2010, Vol. 43 ›› Issue (7): 460-462.

• 论著 • 上一篇    下一篇

雌激素受体基因多态性与江西籍汉族女性SLE相关性研究

刘藕根1,黄清水2,段志兵2,黄天仑2,刘志刚3   

  1. 1. 南昌大学第二附属医院
    2.
    3. 南昌大学第二附属医院皮肤科
  • 收稿日期:2009-11-03 修回日期:2009-12-18 出版日期:2010-07-15 发布日期:2010-07-13
  • 通讯作者: 刘藕根 E-mail:liuougencn@yahoo.com.cn
  • 基金资助:

    江西省卫生厅科技计划

Association between estrogen receptor gene polymorphism and systemic lupus erythematosus in women of Han nationality from Jiangxi province

  • Received:2009-11-03 Revised:2009-12-18 Online:2010-07-15 Published:2010-07-13

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摘要：

目的 探讨雌激素受体α（ERα）基因多态性与江西籍汉族女性SLE患者是否存在相关性。方法 95例江西籍汉族女性SLE患者（18例月经初潮前起病和77例月经初潮后起病）及100例江西籍健康女性，通过PCR－限制性片段长度多态性技术，对其全血ERα PvuⅡ和XbaⅠ位点进行分型，并分析SLE患者月经初潮前与初潮后起病组等位基因及基因型频率分布差异。结果 P等位基因频率SLE组（35.8%）高于对照组（27%），两组差异有统计学意义（P < 0.05）；月经初潮前起病组（19.4%）低于初潮后（39.6%）起病组（P < 0.05）。月经初潮前起病组Xxpp基因频率（16.7%）明显高于正常对照组（1%）和初潮后起病组（1.3%）。结论 江西籍汉族女性SLE患者ERα基因的P基因频率表达增高，Xxpp基因型SLE女性患者更易出现初潮前起病的特征。

关键词: 雌激素受体, 系统性红斑狼疮, 基因多态性

Abstract:

Objective To explore the association between estrogen receptor gene polymorphism and systemic lupus erythematosus in women of Han nationality from Jiangxi province. Methods Whole blood samples were obtained from 95 female patients with SLE of Han nationality （18 with pre-menarche onset and 77 with post-menarche onset） and 100 healthy female controls from Jiangxi province. Genomic DNA was extracted from these samples followed by the analysis of polymorphism at PvuⅡand XbaⅠsites of estrogen receptor alpha gene with PCR-restriction fragment length polymorphism （RFLP）. The frequencies of alleles and genotypes were compared between the control and patients and between patients with pre-menarche onset and those with post-menarche onset. Results The frequency of P allele was higher in patients with SLE than in the controls （35.8% vs 27%, P < 0.05）, but lower in patients with pre-menarche onset than in those with post-menarche onset （19.4% vs 39.6%, P < 0.05）. Further more, an increment was observed in the frequency of Xxpp genotype in patients with pre-menarche onset compared with normal controls and patients with post-menarche onset （16.7% vs 1% and 1.3%, both P < 0.05）. Conclusions The frequency of P allele in ER alpha gene is increased in female patients with SLE of Han nationality from Jiangxi province. The Xxpp genotype of ER gene may be associated with the susceptibility to pre-menarche onset SLE.

Key words: Estrogen receptor, Systemic lupus erythematosus, Gene polymorphisms