雌激素受体α基因多态性与子宫内膜异位症

Relationship between gene polymorphism of estrogen receptor-α and endometriosis

目的探讨雌激素受体α基因内含子1和编码子10的单核苷酸多态性与子宫内膜异位症(简称内异症)发病及临床特性的关系。方法采用限制性片断长度多态性聚合酶链反应和等位基因特异聚合酶链反应方法,分别对78例内异症患者和81例对照组妇女基因组DNA进行雌激素受体α基因内含子1和编码子10的单核苷酸多态性基因检测并分型。结果雌激素受体α基因内含子1单核苷酸多态性(胸腺嘧啶—胞嘧啶)在内异症组与对照组之间存在极显著性差异(2χ=10.121,P=0.006<0.01),变异型p等位基因可能是内异症保护因素。雌激素受体α编码子10单核苷酸多态性(胸腺嘧啶—胞嘧啶)在内异症组与对照组之间无显著性差异(2χ=0.614,P=0.736>0.05)。雌激素受体α基因内含子1和编码子10的单核苷酸多态性与内异症分期无显著相关。结论雌激素受体α基因内含子1单核苷酸多态性可能与内异症的发病有关。

Objective To explore relationship between intron 1 and codon 10 single nucleotide polymorphisms(SNPs) of estrogen receptor-α(ER-α)and clinical characteristics of endometriosis(EMs).Methods Different SNPs genotypes of ER-α of 78 patients with endometriosis and 81 normal control women were detected by using restrict fragment length 1 polymorphism polymerase chain reaction(RFLP-PCR) and allele-specific polymerase chain reaction(AS-PCR).Results The frequency of variant genotype on ER-α Intron 1(thymine-cytimidine) in the patients with endometriosis was significantly lower compared with the control group(χ2=10.121,P=0.006<0.01).The variant genotype P allele might be a protective factor of EMs.In SNPs of codon 10(thymine-cytimidine) there were no significant differences between the two groups(χ2=0.614,P=0.736>0.05).SNPs of intron 1 and codon 10 was not associated with grading of EMs.Conclusion The SNPs of intron 1 of ER-α may be associated with development of endometriosis and the variant P allele of intron 1 of ER-α is a potential protective factor of endometriosis.