• PMID: 20454649
• Gene Name: FSHR
• Condition: Male infertility
• Association: 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 SN
• Mutation: FSHR (-29 in the core promoter region and codon 680 in exon 10)
• Population size: 510
• Population details: 510 ( 240 men with proven fathers, 270 infertile men (150 nonobstructive azoospermic and 120 severe oligozoospermic))
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: Male infertility

FSHR single nucleotide polymorphism frequencies in proven fathers and infertile men in Southeast Turkey

Balkan M, Gedik A, Akkoc H, Izci Ay O, Erdal ME, Isi H, Budak T.

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. FAU - Balkan, Mahmut AU - Balkan M AD - Department of Medical Biology and Genetics, Dicle University Medical Faculty, 21280 Diyarbakir, Turkey. FAU - Gedik, Abdullah AU - Gedik A FAU - Akkoc, Hasan AU - Akkoc H FAU - Izci Ay, Ozlem AU - Izci Ay O FAU - Erdal, M Emin AU - Erdal ME FAU - Isi, Hilmi AU - Isi H