Analysis of Single Nucleotide Polymorphisms G919A and A2039G of Gene FSHR in Infertile Men

• Published in: Cytology and genetics Vol. 52; no. 2; pp. 132 - 138
• Main Authors: Zhylkova, I. S., Sotnik, N. N., Yegunkova, O. V., Feskov, O. M., Fedota, O. M.
• Format: Journal Article
• Language: English
• Published: Moscow Pleiades Publishing 01.03.2018; Springer Nature B.V
• Subjects: Biomedical and Life Sciences; Biomedicine; Follicle-stimulating hormone; Heterozygotes; Homozygotes; Human Genetics; Single-nucleotide polymorphism; G919A (Ala307Thr) and A2039G (Asn680Ser); follicle-stimulating hormone; azoospermia; gene
• ISSN: 0095-4527; 1934-9440
• DOI: 10.3103/S0095452718020111

The polymorphic variants G919A and A2039G of the FSHR gene in men with azoospermia were investigated. In the nonobstructive form of azoospermia, the frequency of homozygotes GGAA, GGGG, and AAAA was 1.8–3.2 times higher than theoretically expected. In men with nonobstructive azoospermia, the highest level of follicle stimulating hormone (FSH) in serum was observed in homozygotes for the polymorphic variant G919A of gene FSHR; heterozygotes were characterized by intermediate values; wild-type homozygotes showed a low level, r s = 0.49. The FSH level in some patients with the nonobstructive form was at the upper limit or higher compared with the normal values, 19.07–33.42 mIU/mL, and the FSH level was in the normal range in the obstructive form. For obstructive azoospermia, the actual frequency of heterozygotes GGGG, GAAG, and AAAA was 2–5.1 times higher than expected; no homozygotes GGAA were found.