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Abstract: β-Microseminoprotein (MSMB) is one of the most abundant proteins in human seminal plasma. It has been identified that MSMB increased significantly in oligoasthenoteratozoospermic patients compared with fertile controls. We hypothesized that the functional polymorphism (rs10993994) of MSMB gene could be a risk factor for spermatogenic failure. For this study, 338 patients with idiopathic oligozoospermia or azoospermia and 382 fertile controls were recruited from an infertility clinic. Semen analysis was performed by computer-assisted semen analysis system. The functional polymorphism of MSMB gene was genotyped using TaqMan method. Sixty three seminal plasma samples were used to test the expression of MSMB by enzyme-linked immunosorbent assay (ELISA). The TT genotype and T allele were associated with an increased risk of idiopathic infertility with azoospermia (TT genotype: OR, 1.75; 95% CI, 1.03–2.95; T allele: OR, 1.34; 95% CI, 1.03–1.75). However, no differences were found in risk for the TT genotype or T allele among men with oligozoospermia. In addition, idiopathic infertile males have significantly higher MSMB expression levels than fertile controls. We present the first epidemiologic evidence supporting the involvement of common genetic polymorphism in MSMB gene in spermatogenic failure. These results suggest that men carrying the variant have an increased risk of spermatogenic failure associated with male infertility. Further studies are needed to confirm the roles of the polymorphism in idiopathic azoospermia and investigate the biological mechanism of elevated MSMB expression in infertile males. [Copyright &y& Elsevier]

Abstract: Studies of the relationship between male infertility and polymorphisms in the regions of FSHR G-29A (rs1394205), 919A>G (Thr307Ala, rs6165) and 2039A>G (Asn680Ser, rs6166) have reported inconsistent results. To assess the association between them, a meta-analysis was conducted. PubMed and CBMdisc literature search were conducted to identify all eligible studies investigating such a relationship. The pooled ORs were performed for co-dominant model, dominant model and recessive model in FSHR G-29A, Thr307Ala and Asn680Ser respectively to assess the strength of association. A total of 1644 male infertility cases and 1748 controls were collected from seven case–control studies. In the overall analysis, no significant association between the three polymorphisms and risk of male infertility was observed. Stratified analysis showed that there were no significantly increased risks of azoospermia and oligoasthenoteratozoospermia (OAT) in any of the genetic models. This meta-analysis supports that FSHR G-29A, Thr307Ala and Asn680Ser polymorphisms may not be capable of causing male infertility susceptibility. [Copyright &y& Elsevier]