FSHRSingle Nucleotide Polymorphism Frequencies in Proven Fathers and Infertile Men in Southeast Turkey

Abstract

The influence of FSH receptor (FSHR) variants on male infertility is not completely understood. The present investigation is the first screening study for SNP at nucleotide position −29 in the core promoter region and codon 680 in exon 10 of the FSHR and the effect of the serum levels of FSH on male infertility in Southeast Turkey. The SNPs in codon 680 and at position −29 of the FSHR gene were analyzed by PCR-RFLP technique in 240 men with proven fathers, and 270 infertile men (150 nonobstructive azoospermic and 120 severe oligozoospermic). The separate analysis for SNP at nucleotide position −29 did not show any difference in genotypic frequencies and serum FSH levels. The genotype distribution of SNP at position 680 was different but does not influence serum FSH levels. Together the two SNPs form four discrete haplotypes (A-Thr-Asn, G-Thr-Asn, A-Ala-Ser, and G-Ala-Ser) occurring in 10 combinations. A statistically significant difference in the allelic distribution of G-Asn/G-Ser and G-Ser/G-Ser genotype between proven fathers and infertile men but there were not any statistically significant difference in the overall frequency of the four FSHR haplotypes. We conclude that the FSHR haplotype does not associate with different serum FSH levels but it is differently distributed in proven fathers and infertile men.

A multi-faceted approach to understanding male infertility: gene mutations, molecular defects and assisted reproductive techniques (ART)

“…Mutations in the LHR gene lead to hypogonadal phenotypes (Leydig cell hypoplasia) because of a delay in fetal and pubertal male development. Mutational screening of the FSHR gene revealed several SNPs of the FSHR gene, 1 in the promoter region at nucleotide position-29 (G to A exchange) and 2 in exon 10 including positions 680 and 307 [105]. Furthermore, variable suppression of spermatogenesis and fertility was diagnosed in men homozygous for the inactivating A189V mutation in exon 7 of the FSHR gene [1].…”

“…Additionally, a FSHR SNP has been discovered that may affect the activity of the gene [21]. Balkan et al, [105] investigated the genetic screening for SNPs at nucleotide position 29 in the core promoter region and codon 680 in exon 10 of the FSHR gene and the effect of the serum levels of FSH on male infertility in Southeast Turkey. They suggested that the FSHR haplotype does not demonstrate any association with different serum FSH levels.…”

Relationship between polymorphisms in exon 10 of FSHR gene and litter size in swine

“…Many studies have indicated that the FSHR gene plays important roles in human hormone secretion, menstrual cycle, ovarian development, and other reproductive processes (Sairam and Subbarayan, 1997;Marson et al, 2008;Achrekar et al, 2009a;Balkan et al, 2010;Rendina et al, 2010;Dolfin et al, 2011;Kang et al, 2012;Grigorova et al, 2008Grigorova et al, , 2013. However, the relationship between FSHR polymorphisms and reproductive traits in swine has not been thoroughly examined.…”

“…cDNA open reading frames of human and most mammalian FSHR genes contain 10 exons and 9 introns, with exon 10 encoding transmembrane and intracellular domains (Marsters et al, 2003;Daelemans et al, 2004). Sequence analysis of exon 10 of FSHR has mainly focused on human samples (Achrekar et al, 2009a;Balkan et al, 2010;Rendina et al, 2010;Dolfin et al, 2011;Grigorova et al, 2008Grigorova et al, , 2013. More than 700 single nucleotide polymorphisms (SNPs) have been identified in the human FSHR gene and are known to impact fertility (Sudo et al, 2002;Daelemans et al, 2004;Jun et al, 2006;Vilodre et al, 2008;Achrekar et al, 2009b;Rodini et al, 2011;Mohiyiddeen et al, 2012).…”

Polymorphism of follicle stimulating hormone receptor influences the 3D structure and its binding pattern to FSH in Bos taurus

“…The polymorphism of FSHR gene exists on bovine (Cory et al, 2013;Gaviria et al 2016), buffalo (Sosa et al 2015;Othman and Abdel-Samad, 2013), human (Singhasena et al 2014;Balkan et al 2010), geese (Kang et al 2010). The FSHR gene polymorphism mostly influenced reproduction performance, even though some of the references suggested that the variation not correlates with fertility rate.…”