雌激素受体α基因多态性与子宫肌瘤的关联性分析

目的：探讨雌激素受体α基因多态性与中国北方汉族人群子宫肌瘤的关系。方法：采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）方法，检测167例子宫肌瘤患者和170例健康女性的雌激素受体α基因rs722209和rs9322346 SNPs位点的基因型，应用SPSS 12.0分析基因多态性与子宫肌瘤的关联性。结果：病例组与对照组人群2个SNPs的基因型分布均符合Hardy-Weinberg平衡定律；病例组rs722209和rs9322346的等位基因及基因型的频数分布与对照组比较差异均无显著性(P>0.05)。结论：雌激素受体α基因rs722209和rs9322346基因多态性可能与中国北方汉族人群子宫肌瘤发病无关。

Analysis of association between estrogen receptor-alpha polymorphisms and uterine leiomyoma

Objective To investigate the genetic assaciation between the estrogen receptor-alpha gene polymorphism and uterine leiomyoma in Northern Han Chinese.Methods The method of PCR-RFLP was conducted to examine the genotypes of rs722209 and rs9322346 of estrogen receptor-alpha gene in 337 subjects,including 167 uterine leiomyoma and 170 controls.The association between the polymorphisms and uterine leiomyoma was analyzed with SPSS 12.0.Results The genotypic frequencies of the 2 SNPs of estrogen receptor-alpha gene did not deviate from Hardy-Weinberg equilibrium in both patient and control groups.The allelic and genotypic frequencies of the 2 SNPs had no remarkable difference between patient and control groups(P>0.05).Conclusion The gene polymorphisms of rs722209 and rs9322346 of estrogen receptor-alpha may be not associated with uterine leiomyoma.