【关键词】  雌激素受体

　　Association between estrogen receptor gene polymorphism in vitiligo patients and their clinical data

　　【Abstract】 AIM: To study the association between estrogen receptorα（ERα）gene polymorphism in vitiligo patients and their clinical data． METHODS: Polymerase chain reactionrestriction fragment length polymorphism (PCRRFLP) was used to study the ERα intron 1 Pvu II C/T (rs2234693) polymorphisms in 466 patients with vitiligo. Genotypes were determined and allele frequencies were compared to find their relationship with their clinical data.  RESULTS:　 The genotype and allele frequency distributions were not significantly different among vitiligo patients with different subtypes, sex, onset age, with/without other autoimmune diseases and family history (P>0.05), while P values were in the range of 0.081-0.364 between segmental and two generalized type vitiligo patients (segmental vs universal, P=0.100; segmental vs common, P=0.081). And P values were near 0.05 when the C/T genotype frequency was compared between onset age of lower than 12 years old and of 12-20 years old (P=0.085); P values were also low in comparisons of genotype (P=0.195) and allele frequencies (P=0.165) between the male and the female patients. CONCLUSION: When the genotype and allele frequencies of the ERα intron 1 C/T polymorphism were compared among vitiligo patients with different subtypes, sex, onset age, with/without other autoimmune diseases and family history, no significant difference was observed. However, a tendency of significant differences was observed in comparisons of female and male vitiligo patients, segmental and generalized types, and different onset age (<12 years old vs 12-20 years old). ERα gene may be a possible risk factor especially for the female, generalized type or children vitiligo patients.

　　【Keywords】  estrogen receptoralpha;  polymorphism, genetic; vitiligo; clinical data

　　【摘要】  目的： 探讨白癜风人群雌激素受体α（estrogen receptorα, ERα）基因多态性与其临床资料之间的关系. 方法： 应用多聚酶链反应―限制性片段长度多态性（PCRRFLP）分析技术，应用两对引物双重检测466例汉族白癜风患者ERα基因内含子1 Pvu II酶切位点C/T (rs2234693) 突变处基因多态性，并比较了该人群雌激素受体基因多态性分布与其临床资料之间的关系. 结果： 白癜风人群基因内含子1 C/T基因型频率及等位基因频率在不同临床类型、性别、发病年龄、病期（稳定与活动）、伴/不伴自身免疫疾病及有无家族成史之间均无统计学差别(P>0.05)，但在皮节型与寻常型之间相比的P值在0.081-0.364范围内，（其中皮节型与泛发型相比C/T基因型频率P=0.100，皮节型与散发型相比C/T等位基因频率P=0.081），12岁以下与12~20年龄组之间基因型频率相比的P值（P=0.085）较接近0.05，男/女基因型频率相比（P=0.195）及等位基因频率相比（P=0.165）亦较低，有差别趋势. 结论： 白癜风人群ERα内含子1 Pvu II酶切位点C/T基因型频率及等位基因频率在不同临床类型、性别、发病年龄、病期（稳定与活动）、伴/不伴自身疾病及有无家族史之间均无显著差别，但在皮节型与寻常型、发病年龄12岁以下与12~20之间、男女之间有差别明显化的趋势，提示携带C基因可能是儿童期发病、寻常型及女性白癜风患者的易感因素.

　　【关键词】  雌激素受体α；多态现象，遗传；白癜风；临床资料
 
　　0引言
　　
　　目前认为白癜风属于多基因遗传性疾病，与遗传和环境因素密切相关. 随着研究的进展，一系列的侯选基因包括雌激素受体α（estrogen receptorα, ERα）基因内含子1Pvu II酶切位点C/T多态性被认为与白癜风易感性有关［1］. 我们采用聚合酶链反应―限制性片段长度多态性（PCRRFLP）分析方法研究了汉族白癜风人群ERα基因内含子1限制性内切酶Pvu II酶切位点C/T（rs2234693）基因多态性分布与其临床资料之间的关系.
 
　　1对象和方法

　　1.1对象随机选择200506/200606第四军医大学西京医院皮肤科门诊就诊的汉族白癜风患者466例，均符合中国中西医结合学会皮肤性病专业委员会色素病学组2003年白癜风临床分型及疗效标准［2］，经患者知情同意并由本人或监护人签名后，收集血液标本，同时采用调查表形式，记录患者的姓名、地址、电话、性别、年龄、职业、民族、发病年龄、部位、季节、可能的诱发因素、疾病类型、病期（稳定与活动）、伴发疾病及家族成员的患病情况等临床资料. 其中男231例，女235例，年龄3~61（24.3±12）岁.