摘要
目的：探讨白癜风人群雌激素受体-α（estrogen receptor-α，ER-α）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（PCR-RFLP）分析技术，应用两对引物双重检测466例汉族白癜风患者ER-α基因内含子1PvuⅡ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1C/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ER．仪内含子1PvuⅡ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．
AIM： To study the association between estrogen receptor-a（ ER-α ）gene polymorphism in vitiligo patients and their clinical data. METHODS： Polymerase chain reaction-restriction fragment length polymorphism （PCR-RFLP） was used to study the ER-α 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 auto-immune 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 geno- type （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 ER-ct 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）. ER-α gene may be a possible risk factor especially for the female, generalized type or children vitiligo patients.
出处
《第四军医大学学报》
北大核心
2007年第4期342-345,共4页
Journal of the Fourth Military Medical University
