• PMID: 21334319
• Gene Name: FSHR
• Condition: Nonobstructive azoospermia, oligozoospermia, male infertility
• Association: The findings suggest that the FSHR polymorphisms at the studied sites do not associate with idiopathic male infertility and have no influence on FSH levels both in normal and infertile males in the Han-Chinese population.
• Mutation: FSHR ( -29 and codons 307 and 680)
• Population size: 645
• Population details: 645 (364 idiopathic infertile patients (97 nonobstructive azoospermic, 79 oligozoospermic and 188 normozoospermic) and 281 fertile controls)
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: Nonobstructive azoospermia, oligozoospermia, male infertility

FSH receptor gene polymorphisms in fertile and infertile Han-Chinese males

Li Y, Gu A, Yang H, Ding X, Ji G, Lu C, Xia Y, Song L, Wang X.

BACKGROUND: Follicle stimulating hormone receptor (FSHR), which mediates the effects of FSH, is essential for normal spermatogenesis and male reproduction. This study aimed to investigate the effects of the FSHR polymorphisms on idiopathic male infertility and serum FSH levels in Han-Chinese population. METHODS: A case-control study was conducted with 364 idiopathic infertile patients (97 nonobstructive azoospermic, 79 oligozoospermic and 188 normozoospermic) and 281 fertile controls. Three polymorphisms at nucleotide position -29 and codons 307 and 680 of the FSHR gene were genotyped by Taqman allelic discrimination and RFLP. FSH levels were measured by RIA. RESULTS: The allele and genotype frequencies of these three polymorphisms were not significantly different between each group of the cases and controls. Serum FSH concentrations did not differ between subjects with different genotypes within each group. Together the three SNPs mainly formed four discrete haplotypes. The distribution of the haplotype was not different between each group of infertile men and fertile controls and did not influence serum FSH levels in each group. CONCLUSIONS: Our findings suggest that the FSHR polymorphisms at the studied sites do not associate with idiopathic male infertility and have no influence on FSH levels both in normal and infertile males in the Han-Chinese population. CI - Copyright © 2011 Elsevier B.V. All rights reserved. FAU - Li, Yingchun AU - Li Y AD - Key Laboratory of Reproductive Medicine, Institute of Toxicology, Department of Physiology, Nanjing Medical University, Nanjing 210029, China. FAU - Gu, Aihua AU - Gu A FAU - Yang, Hua AU - Yang H FAU - Ding, Xinxiang AU - Ding X FAU - Ji, Guixiang AU - Ji G FAU - Lu, Chuncheng AU - Lu C FAU - Xia, Yankai AU - Xia Y FAU - Song, Ling AU - Song L