(098) ERβ Polymorphism (rs1256049; 1082G>A) Association with Male Infertility: A Meta-analysis

Abstract

Abstract Introduction In men, estrogen is produced in the testis by Sertoli cell, Leydig cell and germ cells that play an important role in the maturation and capacitation of sperms. The action of estrogen is mediated by two specific Receptors: Estrogen receptors α (ESRα) and Estrogen receptor β (ESRβ). The polymorphisms of the ERβ gene confer a lower sex hormone binding globulin (SHBG) and thus a stronger unbound estrogen effect, which may adversely affect human spermatogenesis. SHBG is involved in both delivering reproductive hormones to target tissues and controlling the concentration of androgens and estrogens in the serum and tissues. Two silent G/A polymorphisms of the ER□ genes i.e., rs1256049 and rs4986938 have been demonstrated. The polymorphism studied at rs1256049 is 1082G>A presented contrary results. Objective The study aims to demonstrate the prevalence of Estrogen Receptor Beta (ERβ) polymorphism (1082G>A; rs1256049) in two ethnicities i.e., Asian and Caucasian, and its association with the risk of male infertility. Methods The databases PUBMED and NCBI were searched to retrieve case-control studies, published from 2005 to date, regarding ERβ polymorphism and male infertility were selected for this meta-analysis. Results A total of 10 case-control studies out of 85articles (6 Asian + 4 Caucasian), including 1613 cases and 1654 controls, determiningERβ polymorphism and male infertility met the inclusion criteria. Significant association (p<0.05) was found between ERβ polymorphism and risk of male infertility on the basis of all four genetic models i.e. Allelic model (A vs G: OR= 1.19, 95% CI [1.00-1.43], I2 = 62%), additive model (AA vs GG: OR= 0.54, 95% CI [0.31-0.94], I2 = 0%), dominant model (AA+AG vs GG: OR= 1.37, 95% CI [1.11-1.69], I2 = 52%) and recessive model (AA vs AG+GG: OR= 0.55, 95% CI [0.32-0.96], I2 = 0%). In case of Caucasian population, this polymorphism is significantly associated with male infertility on the basis of allelic model (A vs G: OR= 2.10, 95% CI [1.31-3.36], I2 = 37%) as well as the dominant model (AA+AG vs GG: OR= 2.70, 95% CI [1.62-4.51], I2 = 72%), whereas in Asian population, it had a significant association on the basis of recessive model (AA vs AG+GG: OR= 0.55, 95% CI [0.31-0.96], I2 = 0%) only. Conclusions ERβ polymorphism (rs1256049 is 1082G>A) is linked with a higher risk of male infertility and has a more severe effect on the Caucasian population than on the Asian population. Disclosure No