Relationship between gene polymorphism of estrogen receptor-α and endometriosis

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=0.0060.01).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=0.7360.05).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.