Single Nucleotide Polymorphism Analysis of the Folliclestimulating Hormone (FSH) Receptor in Japanese with Male Infertility: Identification of Codon Combination with Heterozygous Variations of the Two Discrete FSH Receptor Gene

Endocrine Journal

Chiharu SHIMODA¹  Futoshi MATSUI¹  Kenrou YAMAMOTO¹  Kazuhiro SUGIMOTO¹  Mikio NAMIKI¹  Atsumi YOSHIDA²  Ho-su SIN¹  Jiro KANAYA¹  Eitetsu KOH¹  Yuji MAEDA¹ 

[1] Department of Integrative Cancer Therapy and Urology, Kanazawa University Graduate School of Medical Science, Kanazawa, Japan;The Reproduction Center, Kiba park clinic, Tokyo, Japan

关键词: FSH receptor;    Male infertility;    Polymorphism;    Japanese;    Codone;   

DOI  :  10.1507/endocrj.K09E-130

学科分类：内分泌与代谢学

来源: Japan Endocrine Society

【 摘 要 】

References(21)Cited-By(14)Aims. Dysfunction of the FSH receptor (FSHR) may be involved in some form of male infertility with azoospermia or oligozoospermia. We assessed the discrete codon combination with homo/heterozygous variation of the exon 10 in the FSHR gene. Methods. The genotype of codon 307 and codon 680 were analysed in 352 patients with idiopathic male infertility and 145 men with proven fertility. Results and Conclusion. There was no significant difference in the distributions of each homozygous codon 307 or 680 between these two groups as reported in the literature. However, the population with heterozygous combinations Thr/Ala (codon 307) and Ser/ Asn (codon 680) comprised 26% (38/146) and 44.9% (157/343) in subjects with proven fertility and idiopathic infertile men, respectively. Moreover, the heterozygous genotype Thr/Ala-Ser/Asn was significantly increased in infertile patients compared with the controls. This finding showed that the combination of heterozygous FSHR can be responsible for male infertility.

【 授权许可】

Unknown