The Association Study On The Polymorphisms Of Estrogen Receptor α And β And Systemic Lupus Erythematosus

[Objective]:To analyse the association study on polymorphisms of ERa and ERP with SLE in Southwestern Han Chinese Cohort.[Methods]:Locus of phenotypes Xbal and PvuII of ERa and locus of phenotypes Alul and RsaI of ERP in697SLE patients in Southwestern Han Chinese Cohort and638healthy controls in Southwestern Han Chinese Cohort were typed by the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) in order to understand the frequency distribution of the alleles and genotypes of ERa and ERβ.[Results]:1.The alleles and genotype frequencies in SLE patients and health controls have reached the Hardy-Weinberg genetic equilibrium.2.The frequency of minor allele C of PvuII(ERa) in SLE patients(47.92%) was significantly higher than that in health controls(40.36%)(χ2=15.427, P=0.0006, OR=1.49,95%CI:1.19-1.88). The frequency of minor allele A of Rsal(ERβ) in SLE patients(25.75%) was significantly lower than that in health controls(31.97%)(χ2=12.595, P=0.0130, OR=0.73,95%CI:0.57-0.94). Both frequencies alleles of Xbal(ERa) and AluI(ERβ) in SLE patients showed no significant difference compared with the health controls, P value was0.2480and0.6143respectively.3.The frequency of minor genotype CC of PvulI(ERa) in SLE patients(27.55%) was significantly higher than that in health controls(18.03%)(χ2=17.371, P=0.0113, OR=1.56,95%CI:1.11-2.20). The frequency of minor genotype AA of Rsal (ERβ) in SLE patients(12.63%) was significantly higher than that in health controls(10.50%)(χ2=41.456, P=0.0004, OR=0.56,95%CI:0.40-0.77). Both frequencies genotypes of Xbal(ERa) and AluI(ERβ) in SLE patients showed no significant difference compared with the health controls, P value was0.0822and0.2427respectively.4.The two locus haplotype AATT (xxpp) frequency(22.53%) of Xbal(ERa) and PvuII(ERa) in SLE patients was significantly lower than the health controls(28.53%)(χ2=6.333, P=0.012, OR=0.61,95%CI:0.42-0.90). The two locus haplotype AACC(xxPP) frequency(10.33%) of XbaI(ERa) and PvuⅡ(ERα) in SLE patients was significantly higher than the health controls(6.11%)(χ2=7.771, P=0.038, OR=1.88,95%CI:1.04-3.40). The two locus haplotype AAGG(aaRR) frequency(45.48%) of AluⅠ(ERβ) and RsaⅠ(ERβ) in SLE patients was significantly higher than the health controls(29.31%)(χ2=31.062, P=0.000, OR=1.88,95%CI:1.33-2.64). The two locus haplotype AAGA(aaRr) frequency(20.23%) of AluⅠ(ERβ) and RsaⅠ(ERβ) in SLE patients was significantly lower than the health controls(31.19%)(χ2=21.086, P=0.001, OR=0.55,95%CI:0.38-0.79).5.The allele G of XbaⅠ(ERα) in SLE patients was related with the decrease of peripheral blood lymphocytes (P=0.001). The allele C of PvuⅡ(ERα) in SLE patients was related with the increase of serum urea nitrogen (P=0.006), the increase of serum creatinine (P=0.008) and the hyperuricemia (P=0.007). The allele G of AluⅠ(ERβ) in SLE patients was related with the increase of serum creatinine (P=0.016). The allele A of RsaⅠ(ERβ) in SLE patients was related with the low serum complement C3(P=0.012).6.The genotype GG of XbaⅠ(ERα) in SLE patients was related with the decrease of peripheral blood lymphocytes (P=0.003). The genotype CC of PvuⅡ(ERα) in SLE patients was related with the hyperuricemia (P=0.028). The genotype GG of AluⅠ(ERβ) in SLE patients was related with the increased erythrocyte sedimentation rate (P=0.028). The genotype AA of RsaⅠ(ERβ) in SLE patients was related with the low serum complement C3(P=0.017).7.The two locus haplotype AATC (xxPp) of XbaⅠ(ERα) and PvuⅡ(ERα) in SLE patients was related with the decrease of peripheral blood lymphocytes (P=0.015). The two locus haplotype AGTC (XxPp) of XbaⅠ(ERα) and PvuⅡ(ERα) in SLE patients was related with the edema (P=0.005).8.The two locus haplotype AAGA (aaRr) of AluⅠ(ERβ) and RsaⅠ(ERβ) in SLE patients was related with the increase of peripheral blood lymphocytes (P=0.009). The two locus haplotype AGGG (AaRR) of AluⅠ(ERβ) and RsaⅠ(ERβ) in SLE patients was related with the increase of serum creatinine (P=0.023).[Conclusions]:1.There is an association between the polymorphisms of ERα and ERβ and systemic lupus erythematosus in Southwestern Han Chinese Cohort.2.The ERα and ERβ may be the susceptibility genes of SLE in Southwestern Han Chinese Cohort.