Volume 13, Issue 8 (9-2015)                   IJRM 2015, 13(8): 503-506 | Back to browse issues page

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Shahhoseini M, Azad M, Sabbaghian M, Shafipour M, Akhoond M R, Salman Yazdi R, et al . New single nucleotide polymorphism G5508A in the SEPT12 gene may be associated with idiopathic male infertility in Iranian men. IJRM. 2015; 13 (8) :503-506
URL: http://journals.ssu.ac.ir/ijrmnew/article-1-672-en.html
1- Department of Genetics, Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Iran , m.shahhoseini@royaninstitute.org
2- Department of Genetics, Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Iran
3- Department of Andrology, Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Iran
4- Department of Epidemiology and Reproductive Health, Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Iran
Abstract:   (1282 Views)
Background: Male infertility is a multifactorial disorder, which affects approximately 10% of couples at childbearing age with substantial clinical and social impact. Genetic factors are associated with the susceptibility to spermatogenic impairment in humans. Recently, SEPT12 is reported as a critical gene for spermatogenesis. This gene encodes a testis specific member of Septin proteins, a family of polymerizing GTP-binding proteins. SEPT12 in association with other Septins is an essential annulus component in mature sperm. So, it is hypothesized that genetic alterations of SEPT12 may be concerned in male infertility.
Objective: The objective of this research is exploration of new single nucleotide polymorphism G5508A in the SEPT12 gene association with idiopathic male infertility in Iranian men.
Materials and Methods: In this case control study, 67 infertile men and 100 normal controls were analyzed for genetic alterations in the active site coding region of SEPT12, using polymerase chain reaction sequencing technique. Fisher exact test was used for statistical analysis and p<0.05 was considered as statistically significant.
Results: Genotype analysis indicated that G5508A polymorphic SEPT12 alleles were distributed in three peaks of frequency in both control and diseases groups. Categorization of the alleles into (GG), (GA), (AA) types revealed a significant difference between infertile patients (azoospermic and asthenospermic) and normal controls (p=0.005).
Conclusion: According to our finding we suggest that G5508A polymorphism in SEPT12 gene can affect spermatogenesis in men, the opinion needs more investigation in different populations.
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Type of Study: Original Article |

1. De Kretser DM, Baker HW. Infertility in men: recent advances and continuing controversies. J Clin Endocrinol Metab 1999; 84: 3443-3450. [DOI:10.1210/jc.84.10.3443]
2. World Health Organization. WHO Laboratory Manual for the Examination of Human Semen and Sperm–Cervical Mucus Interaction. Cambridge University Press, Cambridge; 1999.
3. Sadeghi-Nejad H, Farrokhi F. Genetics of azoospermia: current knowledge, clinical implications, and future directions. Part I. Urol J 2006; 3: 193-203.
4. Aryanpur M, Tarahomi M, Sharifi H, Heydari Gh, Hessami Z, Akhoundi M, et al. Comparison of spermatozoa quality in male smokers and nonsmokers of Iranian infertile couples. Int J Fertil Steril 2011; 5: 152-157.
5. Schultz N, Hamra FK, Garbers DL. A multitude of genes expressed solely in meiotic or postmeiotic spermatogenic cells offers a myriad of contraceptive targets. Proc Natl Acad Sci USA 2003; 100: 12201-12206. [DOI:10.1073/pnas.1635054100]
6. Schlecht U, Demougin P, Koch R, Hermida L, Wiederkehr C, Descombes P, et al. Expression profiling of mammalian male meiosis and gametogenesis identifies novel candidate genes for roles in the regulation of fertility. Mol Biol Cell 2004; 15: 1031-1043. [DOI:10.1091/mbc.E03-10-0762]
7. Wang H, Zhou Z, Xu M, Li J, Xiao J, Xu ZY, et al. A spermatogenesis-related gene expression profile in human spermatozoa and its potential clinical applications. J Mol Med 2004; 82: 317-324. [DOI:10.1007/s00109-004-0526-3]
8. Lin YH, Lin YM, Teng YN, Hsieh TY, Lin YS, Kuo PL. Identification of ten novel genes involved in human spermatogenesis by microarray analysis of testicular tissue. Fertil Steril 2006; 86: 1650-1658. [DOI:10.1016/j.fertnstert.2006.04.039]
9. Gava MM, Chagas Ede O, Bianco B, Christofolini DM, Pompeo AC, Glina S, et al. Methylenetetrahydrofolate reductase polymorphisms are related to male infertility in Brazilian men. Genet Test Mol Biomarkers 2011; 15: 153-157. [DOI:10.1089/gtmb.2010.0128]
10. Li X, Pan J, Liu Q, Xiong E, Chen Z, Zhou Z, et al. Glutathione S-transferases gene polymorphisms and risk of male idiopathic infertility: a systematic review and meta-analysis. Mol Biol Rep 2013; 40: 2431-2438. [DOI:10.1007/s11033-012-2323-3]
11. Nuti F, Krausz C. Gene polymorphisms/mutations relevant to abnormal spermatogenesis. Reprod Biomed Online 2008; 16: 504-513. [DOI:10.1016/S1472-6483(10)60457-9]
12. Hall PA, Finger FP. Septins and human disease. In: Hall PA, Russell SHE, Pringle JR. The Septins. John Wiley & Sons, Hoboken. New Jersey, USA, 2008: 295-317. [DOI:10.1002/9780470779705.ch14]
13. Shafipour M, Sabbaghian M, Shahhoseini M, Sadighi MA.Comparative expression analysis of Septin 14 in testes of infertile men with normal spermatogenesis and spermatogenic failure. Iran J Reprod Med 2014: 12: 205-208.
14. Weirich CS, Erzberger JP, Barral Y. The septin family of GTPases: architecture and dynamics. Nat Rev Mol Cell Biol 2008; 9: 478-489. [DOI:10.1038/nrm2407]
15. Steels JD, Estey MP, Froese CD, Reynaud D, Pace-Asciak C, Trimble WS. Sept12 is a component of the mammalian sperm tail annulus. Cell Motil Cytoskeleton 2007; 64: 794-807. [DOI:10.1002/cm.20224]
16. Lin YH, Lin YM, Wang YY, Yu IS, Lin YW, Wang YH, et al. The expression level of septin12 is critical for spermiogenesis. Am J Pathol 2009; 174:1857-1868. [DOI:10.2353/ajpath.2009.080955]
17. Miyakawa H, Miyamoto T, Koh E, Tsujimura A, Miyagawa Y, Saijo Y, et al. Single-nucleotide polymorphisms in the SEPTIN12 gene may be a genetic risk factor for Japanese patients with Sertoli cell-only syndrome. J Androl 2012; 33: 483-487. [DOI:10.2164/jandrol.110.012146]
18. Miyamoto T, Tsujimura A, Miyagawa Y, Koh E, Namiki M, Horikawa M, et al. Single nucleotide polymorphisms in the SEPTIN12 gene may be associated with azoospermia by meiotic arrest in Japanese men. J Assist Reprod Genet 2012; 29: 47-51. [DOI:10.1007/s10815-011-9679-5]

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