ASSOTIATION-GENETIC STUDY OF POLYMORPHISM G-105A SEPS1 GENE IN MALE INFERTILITY
https://doi.org/10.17709/2409-2231-2018-5-2-7
Abstract
About 30 million men in the world are infertile. Genetic factors are the cause of 15-30% of cases of pathospermia.
Purpose. To study the influence of polymorphism G-105A (rs28665122) of SEPS1 gene on the development of pathospermia among men with infertility inMoscow region.
Patients and methods. There were examined 138 men. All patients were divided on 2 groups: the first (n = 70) – patients with pathospermia, the second (control) – fertile men (n = 68). All patients underwent clinical examination: analysis of spermograms, determination of hormonal profile, ultrasound of scrotum organs. We performed a genetic analysis of peripheral blood leukocyte DNA in patients of both groups. All DNA samples were studied for the presence of polymorphism G-105A (rs28665122) SEPS1 gene using polymerase chain reaction methods and the analysis of restriction fragments length polymorphism (PCR-RFLP).
Results. All patients of the first group suffered from severe infertility. Of these, 26 (37.14%) men had asthenozoospermia, 23 (32.85%) men with teratozoospermia, 21 (30.0%) azoospermia. A clinical study of patients of the first group did not reveal any serious deviations from the norm, so we were installed they idiopathic infertility. Our study of gene polymorphism SEPS1 showed that patients with pathospermia have allele -105А (genotypes GA+AA) a twice as often as in the control group of fertile men (48.57% и 27.94%, respectively, p < 0.001).
Conclusion. Polymorphism G*-105A SEPS1* gene may be
used for screening of infertility in men.
About the Authors
N. G. Kul'chenkoRussian Federation
Nina G. Kulchenko, MD, PhD, urologist, doctor of ultrasonic diagnostics, senior lectures of the departmens of histology, cytology and embryology
For correspondence: Address: 6 Miklukho-Maklaya str., Moscow 117198, Russian Federation
G. I. Myandina
Russian Federation
Galina I. Myandina, PhD, DSc in Biology, professor, department of biology and general genetics
Hasan Alhedjoj
Russian Federation
Alhedjoj Hasan, post-graduate student, department of biology and general genetics
References
1. Yefremov YeA, Kasatonova YeV, Melnik YaI, Simakov VV. Antioxidant Therapy during Preparing Men for Applying of Assisted Reproductive Technologies. Effective Pharmacotherapy.2015;49:14-22. (In Russian).
2. Chalyi ME, Akhvlediani ND, Kharchilava RR. Male infertility. Urology. 2016;S1:2-17. (In Russian).
3. Kaprin AD, Kruglov DP, Kostin AA, Semin AV. Infektsionnye aspekty besplodiya. Andrology and Genital Surgery. 2009;2: 101-102. (In Russian).
4. Agarwal A, Mulgund A, Hamada A, Chyatte MR. A unique view on male infertility around the globe. Reprod Biol Endocrinol. 2015 Apr 26;13:37. DOI: 10.1186/s12958-015-0032-1.
5. Aston KI. Genetic susceptibility to male infertility: news from genome-wide association studies. Andrology. 2014 May;2(3):31521. DOI: 10.1111/j.2047-2927.2014.00188.x
6. Kruglov DP, Kostin AA, Kaprin AD, Semin AV. Sotsial’nye aspekty idiopaticheskogo besplodiya. Andrology and Genital Surgery. 2009;2:171-3. (In Russian).
7. Bozhedomov VA. The male factor in childless marriage – problemsolving strategies. Urology. 2016;S1:28-34. (In Russian).
8. Brahem S, Elghezal H, Ghedir H, Landolsi H, Amara A. Cytogenetic and molecular aspects of absolute teratozoospermia: comparison between polymorphic and monomorphic forms. Urology. 2011 Dec;78(6):1313-9. DOI: 10.1016/j.urology.2011.08.064
9. Kurilo LF. Chromosomal diseases of the reproductive organs. Клиническая и экспериментальная морф The Journal Of Clinical And Experimental Morphology. 2015;1(13):48-59. (In Russian).
10. Anawalt BD. Approach to male infertility and induction of spermatogenesis. J Clin Endocrinol Metab. 2013 Sep;98(9):3532-42. DOI: 10.1210/jc.2012-2400.
11. Ferlin A, Raicu F, Gatta V, Zuccarello D, Palka G, Foresta C. Male infertility: Role of genetic background. Reprod Biomed Online. 2007 Jun;14(6):734-45.
12. Mao H, Cui R, Wang X. Association analysis of selenoprotein S polymorphisms in Chinese Han with susceptibility to gastric cancer. Int J Clin Exp Med. 2015 Jul 15;8(7):10993-9.
13. Vinogradov IV, Vinogradova LM, Bazanov PA, Iutkin EV. Treatment of male infertility due to sperm DNA fragmentation. Problemy reproduktsii (Russian Journal of Human Reproduction). 2014;3:62-72. (In Russian).
14. Gao Y, Hannan NR, Wanyonyi S, Konstantopolous N, Pagnon J, Feng HC, et al. Activation of the selenoprotein SEPS1 gene expression by pro-inflammatory cytokines in HepG2 cells. Cytokine. 2006;33(5):246-51. DOI: 10.1016/j.cyto.2006.02.005
15. Wang Y, Yang X, Zheng Y, Wu ZH, Zhang XA, Li QP, et al. The SEPS1 G-105A polymorphism is associated with risk of spontaneous preterm birth in a Chinese population. PLoS One. 2013 Jun 11;8(6):e65657. DOI: 10.1371/journal.pone.0065657
16. Santos LR, Duraes C, Mendes A, Prazeres H, Avelos MI, Moreira CS. A polymorphism in the promoter region of selrnoprotein S gene (SEPS1) contributes to hashimito’s thyroid suscepti . J Clin Endocrinol Metab. 2014 Apr;99(4):E719-23. DOI: 10.1210/jc.2013-3539.
17. Gromov AI, Builov VM. Luchevaya diagnostika i terapiya v urologii [Radiation diagnostics and therapy in urology]. Мoscow: “GEOTAR-Media” Publ., 2011, 544 p. (In Russian).
Review
For citations:
Kul'chenko N.G., Myandina G.I., Alhedjoj H. ASSOTIATION-GENETIC STUDY OF POLYMORPHISM G-105A SEPS1 GENE IN MALE INFERTILITY. Research and Practical Medicine Journal. 2018;5(2):65-71. (In Russ.) https://doi.org/10.17709/2409-2231-2018-5-2-7