Analysis of the single nucleotide polymorphisms G919A and A2039G of FSHR gene in infertile men

Zhylkova I., Sotnik N., Yegunkova O., Feskov O., Fedota O.

SUMMARY. The polymorphic variants G919A and A2039G of the FSHR gene in men with azoospermia were investigated. In the form of non-obstructive azoospermia the frequency of homozygotes GGAA, GGGG, AAAA is in 1,8–3,2 times higher than theoretically expected. In men with non-obstructive azoospermia, the highest level of FSH in serum was observed in the homozygotes for the polymorphic variant of SNP G919A in the FSHR gene, heterozygotes differed intermediate values, a low level was noted in wild type homozygotes, r_s = 0,49. The level of FSH in some patients with non-obstructive form is on the upper limit or higher comparing with normal values –19,07–33,42 mIU/mL, and in obstructive form FSH level is in the normal range. For obstructive azoospermia the actual frequency of heterozygotes GGGG, GAAG, AAAA is in 2–5,1, times higher than expected. GGAA homozygotes were not found in group of men with obstructive azoospermia.

Key words: azoospermia, FSH, G919A (Ala307Thr) and A2039G (Asn680Ser), FSHR gene

Tsitologiya i Genetika 2018, vol. 52, no. 2, pp. 58-66

E-mail: zhilkova feskov.com.ua

Zhylkova I., Sotnik N., Yegunkova O., Feskov O., Fedota O. Analysis of the single nucleotide polymorphisms G919A and A2039G of FSHR gene in infertile men, Tsitol Genet., 2018, vol. 52, no. 2, pp. 58-66.

In "Cytology and Genetics":
I. S. Zhylkova, N. N. Sotnik, O. V. Yegunkova, O. M. Feskov, O. M. Fedota Analysis of Single Nucleotide Polymorphisms G919A and A2039G of Gene FSHR in Infertile Men, Cytol Genet., 2018, vol. 52, no. 2, pp. 132–138
DOI: 10.3103/S0095452718020111