Analysis of Single Nucleotide Polymorphisms G919A and A2039G of Gene FSHR in Infertile Men
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Abstract
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, rs = 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.
Keywords
azoospermia follicle-stimulating hormone G919A (Ala307Thr) and A2039G (Asn680Ser) FSHR genePreview
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- 1.Bhasin, S., Approach to the infertile man, J. Clin. Endocrinol. Metab., 2007, vol. 92, no. 6, pp. 1995–2004.CrossRefPubMedGoogle Scholar
- 2.Esteves, S.C. and Agarwal, A., Novel concepts in male infertility, Int. Braz. J. Urol., 2011, vol. 37, no. 1, pp. 5–15.CrossRefPubMedGoogle Scholar
- 3.Olszewska, M., Wanowska, E., Kishore, A., Huleyuk, N., Georgiadis, A.P., Yatsenko, A.N., Mikula, M., Zastavna, D., Wiland, E., and Kuspisz, M., Genetic dosage and position effect of small supernumerary marker chromosome (ssMC) in human sperm nuclei in infertile male patient, Sci. Rep., 2015, vol. 5, p. 517408.CrossRefGoogle Scholar
- 4.Poongothai, J., Gopenath, T.S., and Manonayaki, S., Genetics of human male infertility, Singapore Med. J., 2009, vol. 50, no. 4, pp. 336–347.PubMedGoogle Scholar
- 5.Garg, T., LaRosa, C., Strawn, E., Robb, P., and Sandlow, J.I., Outcomes after testicular aspiration and testicular tissue cryopreservation for obstructive azoospermia and ejaculatory dysfunction, J. Urol., 2008, vol. 180, no. 6, pp. 2577–2580.CrossRefPubMedGoogle Scholar
- 6.An International System for Human Cytogenetic Nomenclature, Shaffer, K.G., Slovak, M.L., and Campbell, L.J., Eds., Basel: S. Karger, 2009.Google Scholar
- 7.Tanrikut, C. and Goldstein, M., Obstructive azoospermia: a microsurgical success story, Semin. Reprod. Med., 2009, vol. 27, no. 2, pp. 159–164.CrossRefPubMedGoogle Scholar
- 8.Sadeghi-Nejad, H. and Farrokhi, F., Genetics of azoospermia: current knowledge, clinical implications, and future directions, part I, Urol. J., 2006, vol. 3, no. 4, pp. 193–203.PubMedGoogle Scholar
- 9.Chernykh, V.B., Kurilo, L.F., Shirshova, L.S., Chuchrova, A.L., Kovalevskaya, T.S., Polyakov, A.V., Gogolevdky, P.A., Kalugina, A.S., Morina, G.V., Togobetskaya, I.K., and Kramerov, D.A., Microdeletion analysis of AZF locus in infertile men: cooperative experience of research work, Med. Genet., 2003, vol. 2, no. 8, pp. 367–379.Google Scholar
- 10.Huang, J.S., Tcas 10. Genetic testing of infertile males with nonobstructive azoospermia or severe oligozoospermia in Taiwan, Trans. Androl. Urol., 2012, vol. 1. doi 10.3978/j.issn.2223-4683.2012.s291Google Scholar
- 11.Kumar, R., Medical management of non-obstructive azoospermia, Clinics, 2013, vol. 68, suppl. 1, pp. 75–79.CrossRefPubMedPubMedCentralGoogle Scholar
- 12.Nislag, E. and Bere, G.M., Andrology and missione, in Men’s Health and Reproductive System Disorders, Moscow: Med. Inform. Agentstvo, 2005, pp. 3–11.Google Scholar
- 13.Noordam, M.J., Westerveld, G.H., Hovingh, S.E., van Daalen, S.K., Korver, C.M., van der Veen, F., van Pelt, A.M., and Repping, S., Gene copy number reduction in the azoospermia factor c (AZFc) region and its effect on total motile sperm count, Hum. Mol. Genet., 2011, vol. 20, no. 12, pp. 2457–2463.CrossRefPubMedGoogle Scholar
- 14.Schlegel, P.N., Causes of azoospermia and their management, Reprod. Fertil. Dev., 2004, vol. 16, no. 5, pp. 561–572.CrossRefPubMedGoogle Scholar
- 15.Tyrkus, M., Huleyuk, N., Makukh, H., Gavrylyshyn, S., Kurpish, M., and Zastavna, D., Frequency and spectrum of chromosomal abnormalities, Y-chromosome microdeletions and CFTR gene mutations among Ukrainian infertile men, in 4th Utah-Florence Symposium on the Genetics of Male Infertility, Salt Lake City, 2010.Google Scholar
- 16.Fesai, O.A., Kravchenko, S.A., Zinchenko, V.M., and Livshits, L.A., Study on occurrence of the IVS8-5T allele of the CFTR gene in Ukrainian males with spermatogenesis failure, Biopolym. Cell, 2010, vol. 6, no. 4, pp. 306–310.CrossRefGoogle Scholar
- 17.McCormick, J., Green, M.W., Mehta, G., Culross, F., and Mehta, A., Demographics of the UK cystic fibrosis population: implications for neonatal screening, Eur. J. Hum. Genet., 2002, vol. 10, no. 10, pp. 583–590.CrossRefPubMedGoogle Scholar
- 18.Modiano, G., Ciminelli, B.M., and Pignatti, P.F., Cystic fibrosis and lactase persistence: a possible correlation, Eur. J. Hum. Genet., 2007, vol. 15, no. 3, pp. 255–259.CrossRefPubMedGoogle Scholar
- 19.Dohle, G.R., Diemer, T., and Kopa, Z., European Association of Urology, Working Group on Male Infertility: Eur Urol., 2014.Google Scholar
- 20.Makukh, H.V., Kocheva, S., Zastavna, D.V., Kornijenko, Y.O., and Hnatejko, O.Z., Mutation analysis of CFTR gene by DGGE method in CF patients from West Ukraine, Biopolym. Cell, 2001, vol. 17, no. 4, pp. 319–324.CrossRefGoogle Scholar
- 21.Livshyts, L.A., A molecular genetic analysis of the mutations in the exons of the cftr gene in cystic fibrosis patients in Ukraine, Tsitol. Genet., 2000, vol. 34, no. 4, pp. 6–9.PubMedGoogle Scholar
- 22.Zaporozhan, V.M., Aryayev, M.L., and Starets, O.O., Cystic Fibrosis, Kiev: Zdorovya, 2001.Google Scholar
- 23.Ilchenko, S.I., Clinical and microbiological peculiarities of mucoviscidosis course in children of big industrial city, Pathologia, 2014, vol. 32, no. 3, pp. 73–77.Google Scholar
- 24.Fesai, O.A., Pampukha, V.M., Solovyov, O.O., and Livshits, L.A., Molecular-genetic analysis of AZF gene defects located on Y-chromosome, and CFTR gene in male infertility, Biopolym. Cell, 2008, vol. 24, no. 3, pp. 231–237.CrossRefGoogle Scholar
- 25.Dul, E.C., Van Echten-Arends, J., Groen, H., Dijkhuizen, T., Land, J.A., and van Ravenswaaij-Arts, C.M., Chromosomal abnormalities in azoospermic and nonazoospermic infertile men: numbers needed to be screened to prevent adverse pregnancy outcomes, Hum. Reprod., 2012, vol. 27, no. 9, pp. 2850–2856.CrossRefPubMedGoogle Scholar
- 26.Everaert, K., De Croo, I., Kerckhaert, W., Dekuyper, P., Dhont, M., Van der Elst, J., De Sutter, P., Comhaire, F., Mahmoud, A., and Lumen, N., Long term effects of micro-surgical testicular sperm extraction on androgen status in patients with non obstructive azoospermia, BMC Urol., 2006, vol. 6. doi 10.1186/1471-2490-6-9Google Scholar
- 27.Grigorova, M., Punab, M., Zilaitiene, B., Erenpreiss, J., Ausmees, K., Matulevicius, V., Tsarev, I., Jorgensen, N., and Laan, M., Genetically determined dosage of folliclestimulating hormone (FSH) affects male reproductive parameters, J. Clin. Endocrinol. Metab., 2011, vol. 96, no. 9, pp. 1534–1541.CrossRefGoogle Scholar
- 28.Wu, Q.Y., Shui, Y.C., Xia, X.Y., and Huang, Y.F., FSH and FSHR gene polymorphisms and male infertility: an update, Zhonghua Nan Ke Xue, 2015, vol. 21, no. 11, pp. 1031–1034.PubMedGoogle Scholar
- 29.Grigorova, M., Punab, M., Poolamets, O., Kelgo, P., Ausmees, K., Korrovits, P., Vihljajev, V., and Laan, M., Increased prevalance of the–211T allele of follicle stimulating hormone (FSH) beta subunit promoter polymorphism and lower serum FSH in infertile men, J. Clin. Endocrinol. Metab., 2010, vol. 95, no. 1, pp. 100–108.CrossRefPubMedGoogle Scholar
- 30.Pengo, M., Ferlin, A., Arredi, B., Ganz, F., Selice, R., Garolla, A., and Foresta, C., FSH receptor gene polymorphisms in fertile and infertile Italian men, Reprod. Biomed. Online, 2006, vol. 13, no. 6, pp. 795–800.CrossRefPubMedGoogle Scholar
- 31.World health organization, WHO laboratory manual for the examination and processing of human semen, Geneva, 2010.Google Scholar
- 32.Zerova-Lyubimova, T.E. and Gorovenko, N.G., Standards of the Analysis of Human Chromosomes (Manual), Kiev: P.L. Shupyk National Medical Academy of Postgraduate Education, 2003.Google Scholar
- 33.ISCN 2009. An International System for Human Cytogenetic Nomenclature, Shaffer, K.G., Slovak, M.L., and Campbell L.J., Eds., Basel: S. Karger, 2009.Google Scholar
- 34.Petrie, A. and Sabin, C., Medical Statistics at a Glance, Winnipeg: Blackwell Science, 2000.Google Scholar
- 35.Baum, N.H., Bohnert, W.W., Blizzard, R., Bonney, W.W., and Cooper, T.P., American Urological Association Gallup survey: Physician practice patterns, cryosurgery/ brachytherapy, male infertility, female urology and insurance/professional liability, J. Urol., 2004, vol. 171, no. 6, pp. 2363–2368.CrossRefPubMedGoogle Scholar
- 36.Ferlin, A., Arredi, B., and Foresta, C., Genetic causes of male infertility, Reprod. Toxicol., 2006, vol. 22, no. 2, pp. 133–141.CrossRefPubMedGoogle Scholar
- 37.Krausz, C. and Chianese, C., Genetic testing and counselling for male infertility, Curr. Opin. Endocrinol. Diabetes Obes., 2014, vol. 21, no. 3, pp. 244–250.CrossRefPubMedGoogle Scholar
- 38.Jha, C.B., Dhungel, S., and Rai, D., Karyotype revealed 47,XXY chromosome (Klinefelter syndrome): a case report, Nepal Med. Coll. J., 2007, vol. 9, no. 3, pp. 215–216.PubMedGoogle Scholar
- 39.Veropotvelyan, N.P., Pogulay, Y.S., Zhuravlev, S.A., and Kodunov, L.A., An analysis of microdeletions in the AZF locus in men with various disorders of spermatogenesis, Med. Asp. Men’s Health, 2012, no. 3, pp. 74–77.Google Scholar
- 40.Gharesi-Fard, B., Ghasemi, Z., Shakeri, S., Behdin, S., Aghaei, F., and Malek-Hosseini, Z., The frequency of follicle stimulating hormone receptor gene polymorphisms in Iranian infertile men with azoospermia, Iran. J. Reprod. Med., 2015, vol. 13, no. 11, pp. 673–678.PubMedPubMedCentralGoogle Scholar
- 41.Lindgren, I., Giwercman, A., Axellson, J., and Lundberg Giwercman, Y., Association between follicle-stimulating hormone receptor polymorphisms and reproductive parameters in young men from the general population, Pharmacogenes. Genom., 2012, vol. 22, no. 9, pp. 667–672.CrossRefGoogle Scholar
- 42.Baker, K. and Sabanegh, E., Jr., Obstructive azoospermia: reconstructive techniques and results, Clinics (Sao Paulo), 2013, vol. 68, suppl. 1, pp. 61–73.CrossRefGoogle Scholar
- 43.Clinical Handbook of Insomnia, Attarian, H.P. and Schuman, C., Eds., Springer Science and Business Media, 2007.Google Scholar
- 44.Donkol., R.H., Imaging in male-factor obstructive infertility, World J. Radiol., 2010, vol. 2, no. 5, pp. 172–179.CrossRefPubMedPubMedCentralGoogle Scholar
- 45.Tiseo, B.C., Hayden, R.P., and Tanrikut, C., Surgical management of nonobstructive azoospermia, Asian J. Urol., 2015, vol. 2, no. 2, pp. 85–91.CrossRefPubMedPubMedCentralGoogle Scholar
- 46.Frühmesser, A. and Kotzot, D., Chromosomal variants in Klinefelter syndrome, Sex. Dev., 2011, vol. 5, no. 3, pp. 109–123.CrossRefPubMedGoogle Scholar
- 47.Samli, H., Samli, M.M., Solak, M., and Imirzalioglu, N., Genetic anomalies detected in patients with nonobstructive azoospermia and oligozoospermia, Arch. Androl., 2006, vol. 52, no. 4, pp. 263–267.CrossRefPubMedGoogle Scholar
- 48.Ramasamy, R., Ricci, J.A., Palermo, G.D., Gosden, L.V., Rosenwaks, Z., and Schlegel, P.N., Successful fertility treatment for klinefelter’s syndrome, J. Urol., 2009, vol. 182, no. 3, pp. 1108–1113.CrossRefPubMedGoogle Scholar