中文摘要：

目的 探讨雌激素受体（ER）α和β基因多态性与云南汉族SLE的相关性.方法 应用PCR-限制性片段长度多态性技术,对697例云南汉族女性SLE患者和638名云南汉族女性健康体检者ERα基因Xba Ⅰ和PvuⅡ,ERβ基因Rsa Ⅰ和Alu Ⅰ等多态性位点进行分型;采用Hardy-Weinberg平衡检验和x^2检验比较2组间各等位基因和基因型频率,并根据SLE患者临床资料进行分层及相关性分析.结果 ①ERα基因分型结果：SLE组PvuⅡ位点低频等位基因C频率明显高于健康对照组（x^2=15.427,P=0.001）;Xba Ⅰ位点各等位基因频率组间比较差异无统计学意义（P＞0.05）;SLE组PvuⅡ位点低频基因型CC频率明显高于健康对照组（x^2=17.371,P=0.011）;Xba Ⅰ位点各基因型频率在2组间差异无统计学意义（P＞0.05）;SLE组XbaⅠ和PvuⅡ位点的两座位单体型AATT频率明显低于健康对照组（x^2=6.333,P=0.012）;AACC频率明显高于健康对照组（x^2=7.771,P=0.038）.②ERβ基因分型结果：SLE组Rsa Ⅰ位点低频等位基因A频率明显低于健康对照组（x^2=12.595,P=0.013）;Alu Ⅰ位点各等位基因频率2组间比较差异无统计学意义（P＞0.05）;SLE组Rsa Ⅰ位点低频基因型AA频率明显高于健康对照组（x^2=41.456,P=0.000）;Alu Ⅰ位点各基因型频率组间比较差异无统计学意义（P＞0.05）;SLE组Alu Ⅰ和Rsa Ⅰ位点的两座位单体型AAGG频率明显高于健康对照组（x^2=37.063,P=0.000）;AAGA频率明显低于健康对照组（x2=21.086,P=0.001）.②分层相关分析发现SLE患者PvuⅡ位点等位基因C与脾肿大相关（x^2=4.212,P＜0.05）;Xba Ⅰ和PvuⅡ位点的两座位单体型AGTC与水肿相关（x^2=7.898,P＜0.05）.SLE患者Alu Ⅰ和Rsa Ⅰ位点各等位基因、基因型及两座位单体型与各临床表型无相关性（P＞0.05）.结论 ERα和ERβ基因多态性与云南汉族SLE具有相关性;ERα和ERβ基因可能是云南汉族人群SLE的易感基因.

英文摘要：

Objective To analyze the association of polymorphisms of estrogen receptor （ER） α and β genes with systemic lupus erythematosus （SLE） in Chinese Han cohort of Yunnan Province.Methods XbaⅠ and Pvu Ⅱ of ERα gene,Rsa Ⅰ and Alu Ⅰ of ERβ gene were typed by polymerase chain reaction-restriction fragment length polymorphism （PCR-RFLP） in 697 SLE patients and 638 healthy controls.The frequency distribution of the alleles and genotypes were analyzed by Hardy-Weinberg equilibrium test and x^2 test.Results ① For ERα gene,the frequency of minor allele of Pvu Ⅱ C in SLE patients was significantly higher than healthy controls （x^2=15.427,P=0.001）;the allele frequencies of XbaⅠ in SLE patients showed no significant difference compared with healthy controls （P〉0.05）.The frequency of minor genotype of Pvu Ⅱ CC in SLE patients was significantly higher than healthy controls （x^2=17.371,P=0.011）.The frequency of two locus haplotype AATT in SLE patients was significantly lower than healthy controls （x^2=6.333,P=0.012）;the frequency of the two locus haplotype AACC in SLE patients was significantly higher than healthy controls （x^2=7.771,P=0.038）.② For ERβ gene,the frequency of minor allele RsaⅠ A in SLE patients was significantly lower than healthy controls （x^2=12.595,P=0.013）;the allele frequencies of Alu Ⅰ in SLE patients showed no significant differences compared with the healthy controls （P〉0.05）.The frequency of minor genotype AA of Rsa Ⅰ in SLE patients was significantly higher than healthy controls （x^2=41.456,P=0.000）.The frequency of two locus haplotype AAGG in SLE patients was significantly higher than healthy controls （x^2=37.063,P=0.000）.The frequency of the two locus haplotype AAGA in SLE patients was significantly lower than healthy controls（x^2=21.086,P=0.001）.③ Pvu Ⅱ C was related with splenomegaly （x^2=4.212,P〈0.05）.The two locus haplotype AGTC of Xba Ⅰ and Pvu Ⅱ was related with edema （x^2=7.898,P〈0.05）.Conclusi