| Objective: To explore the distribution characteristics of rs2234693C/T,rs9340799A/G,rs3798759G/T,rs1062577A/T and rs3798577C/T single nucleotide polymorphisms of the ESRα gene in zhuang Guangxi population,and to analyze the possible association between ESRα gene polymorphism and male infertility risk.Methods: The polymorphisms of rs2234693C/T,rs9340799A/G and rs3798759G/T in the estrogen receptor α gene were genotyped by the PCR-RFLP and rs1062577A/T and rs3798577C/T were genotyped by TaqMan probes Real-Time PCR procedure.Allele frequency and genotype of male infertility patients and control group,using the chi-square test analysis the association analysis of male infertility.The Hardy–Weinberg equilibrium was tested using a Hardy–Weinberg equilibrium(HWE)calculator.The odds ratio(OR)and 95% confidence interval(CI)were calculated for the presence of the reference genotype via a logistic regression model,which evaluate the single nucleotide polymorphisms and the risk of male infertility.An online tool SHEsis was used for haplotype and linkage disequilibrium analysis.Statistical analyses were performed using the SPSS 17.0(SPSS,Chicago,USA)statistical package.All reported values are two-tailed and were considered statistically significant when equal to 0.05 or less.Results: Data showed that three genotypes of CC,CT and TT were found in rs2234693C/T,there were differences of genotype and allele frequency were statistically significant between Guangxi and Iranian men,Brazilian men.Three genotypes of AA,AG and GG were found in rs9340799A/G,there was significant difference of the genotype and allele frequency as compared with Iranian men,Brazilian men,Pakistan men,Egyptian men,Greek men.The rs2234693C/T polymorphism,allele frequency and genotype distributions were significantly different between fertile and infertile groups(P=0.002/0.005,respectively).Genetic model analysis showed that ESRα gene 2234693C/T was significantly different between fertile and infertile groups under codominant(CCvs.TT)and recessive genetic model(P<0.05).Subjects carrying the T allele frequency of 2234693C/T had increased risk of infertility compared to the subjects carrying the G allele frequency.There were weak linkage of rs2234693,rs9340799,rs3798577 and rs1062577 in ESRα gene.Conclusion: There were different degrees of discrepancy of rs2234693C/T,rs9340799A/G polymorphism of ESRα gene among different race and region.ESRα gene rs2234693C/T polymorphism is associated with the development of male infertility in zhuang Guangxi population.Objective: To analyze the possible association between ESRα gene polymorphism and the serum level of E2、ESRα with the sperm quality of male infertility.Methods: Computer-assisted semen analysis(CASA)was used to analysis sperm quality.The serum level of E2,ESRα was determined by enzyme linked immuneosorbent assay(ELISA).Statistical analyses were performed using the SPSS 17.0(SPSS,Chicago,USA)statistical package.All reported values are two-tailed and were considered statistically significant when equal to 0.05 or less.Results: The levels of serum E2,ESRα in the patients with male infertility were significantly higher than those in control group(t = 2.717/5.807,respectively,P<0.05).There was a negative correlation between the serum levels of E2 and the sperm concentration,the progressively motile sperm,the normal sperm morphology the serum levels of ESRα(r = 0.198,0.309,0.211 and 0.246,respectively,P <0.05).The serum levels of E2 and ESRα in normozoospermia group compare with other group were lower.There was no significant difference between the three genotypes of rs2234693C/T and the sperm concentration,the progressively motile sperm,the serum level of ESRα and E.Conclusion: We found that the serum levels of E2,ESRα could affect the semen quality,which might be involved in spermatogenesis.There was no correlation between the rs2234693C/T polymorphism of the ESRα gene and sperm concentration,the percentage of forward motility spermatozoa,and the serum level of E2 and ESRα. |
