FSH receptor gene polymorphisms in fertile and infertile Italian men

Abstract

In women, single nucleotide polymorphisms (SNP) of the FSH receptor (FSHR) gene influence FSH concentrations and the sensitivity of the FSHR to FSH in vivo. In contrast, the significance of FSHR R gene SNP in the male is poorly understood. To this aim, the possible role of three FSHR SNP was evaluated in male infertility. SNP in exon 10 (codon 307 and 680) and in the core promoter region (at position -29) of the FSHR gene were analysed by polymerase chain reaction-restriction fragment length polymorphism technique in 150 men representative of the general population, 107 proven fathers, 92 normozoospermic controls, and 215 infertile patients classified according to sperm parameters (38 azoospermia, 53 severe oligozoospermia, 48 moderate oligozoospermia, and 76 slight oligozoospermia). Reproductive hormones were measured in infertile males and normozoospermic controls. No significant difference was found in allelic variants frequency and genotype distribution between each category of subjects when analysing the FSHR exon 10 SNP alone and in combination with the SNP at position -29. Serum FSH concentrations and other andrological parameters did not differ between subjects with different genotype within each group. The data showed that in the Italian population, FSHR genotypes have no influence on FSH concentrations both in normal and infertile males and do not associate with spermatogenetic impairment.

Impact of follicle-stimulating hormone receptor variants in female infertility

“…There are studies investigating the effects of the SNP in exon 10 (codon 307 and 680) and in the core promoter region (at position −29) of the FSHR gene on spermatogenesis [13,18,19]; however, to our knowledge, there is no study analyzing the combined effects of these three SNPs on female fertility and also the present study is the first to analyze Ala189Val inactivating mutation in a population of infertile Turkish women.…”

“…Gene haplotypes have better predictive power to disclose the existing associations between the gene variants and disease conditions that would remain hidden if only individual SNPs are analyzed. In several studies, the polymorphism in FSHR gene core promoter at position 29 was evaluated in combination with A919G (Thr307Ala) and A2039G (Asn680Ser) SNPs for the assessment of male infertility [13,18].…”

“…In all subjects, the polymorphisms at positions 919, 2039 (codon 307 and 680), and −29 were analyzed by restriction fragment length polymorphism (RFLP), as previously described (Figs. 1, 2, and 3) [13,16]. The mutation at position 566 was also analyzed by RFLP, as previously described (Fig.…”

“…SNP at position −29 results in a G→A exchange in a potential GGAA binding domain for an E-twenty-six specific transcription factor [12,13]. Further studies are required to show whether this changes the DNA binding capacity for this transcription factor, thereby leading to altered receptor mRNA expression.…”

Genetic association of UBE2B variants with susceptibility to male infertility in a Northeast Chinese population

“…The flagellar phenotype of Ube2b-null mice is very similar to the known human phenotype of ''aberrant distribution of periaxonemal structures'' (Escalier and Serres, 1985), which leads to severe defects in sperm motility, with abnormal flagellar curvature or impaired progressivity (Serres et al, 1986). Therefore, UBE2B may be associated with male infertility caused by spermatogenetic impairment or testicular dysfunction (Pengo et al, 2006).…”