Association Between Estrogen Receptor α Gene Polymorphisms And Systemic Lupus Erythematosus In Chinese Women

Estrogen receptor(ER)is the key for estrogen to playing it's role,ER has two subtypes ERαand ERβ,which are coded by different genes.The genes that code ERαand ERβhave genetic polymorphism,that's the reason ER's expression and function have individual differences.Which leads to different person has different susceptivity and clinical features to some certain diseases.Gene mapping screen indicates that there are seven polymorphism sites on gene ERα.Many research are focused on PvuⅡ,XbaⅠrestriction fragment length polymorphism which are located in intron 1 and the TA tandem repeats in gene promoter.Many research show that the polymorphisms ERαand ERβhave could have influences on the expression and function of ERαand ERβ,therefore they have close correlation with the occurrence and development of estrogen associated disease.Objective:To analyse the genetic influence of estrogen receptor alpha gene polymorphisms in female patients with systemic lupus erythematosus(SLE).Methods:XbaⅠand PvuⅡrestriction fragment length polymorphism of ERαgene were analysed in 70 female patients with SLE and 200 female health controls,ERαgene typing was performed using PCR-RFLP techniques.Results:1.Comparison of ERαPvuⅡand XbaⅠgenotype between SLE group and control group:there was no significant difference in P gene frequency of PvuⅡallele and X gene frequency of XbaⅠgene frequency between SLE group and control group(P＞0.05).the frequency of Pp genotype of ERαgene was higher in SLE female patients than those in health control(P＜0.05),while the significant difference was not found in the frequency of other genotypes.2.Analysis of ERαPvuⅡand XbaⅠgene polymorphism between SLE group and control group:the result shows the major genotypes are ppxx,Ppxx,PpXx; The frequency of ppXx genotype of ERαgene polymorphisms in SLE female patients was significantly increased,while the frequency of ppxx genotype of ERαgene polymorphisms was significantly decreased(P＜0.05).Conclusion:the results suggest that X and P genotype are not significantly increased in female patients with SLE in china,but the Pp and ppXx genotype of ERαgene may be associated with SLE in the female patients.