Shahhoseini Maryam, Azad Mahnaz, Sabbaghian Marjan, Shafipour Maryam, Akhoond Mohammad Reza, Salman-Yazdi Reza, Sadighi Gilani Mohammad Ali, Gourabi Hamid
Department of Genetics, Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Iran.
Department of Andrology, Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Iran.
Iran J Reprod Med. 2015 Aug;13(8):503-6.
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.
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.
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.
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).
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.
男性不育是一种多因素疾病，影响约10%的育龄夫妇，具有重大的临床和社会影响。遗传因素与人类生精功能受损的易感性相关。最近，SEPT12被报道为生精的关键基因。该基因编码Septin蛋白家族的一个睾丸特异性成员，Septin蛋白家族是一类聚合的GTP结合蛋白。SEPT12与其他Septin蛋白相关，是成熟精子中必不可少的环状结构成分。因此，推测SEPT12的基因改变可能与男性不育有关。
本研究的目的是探索SEPT12基因中的新单核苷酸多态性G5508A与伊朗男性特发性男性不育的关系。
在这项病例对照研究中，使用聚合酶链反应测序技术分析了67名不育男性和100名正常对照者SEPT12活性位点编码区的基因改变。采用Fisher精确检验进行统计分析，p<0.05被认为具有统计学意义。
基因型分析表明，G5508A多态性SEPT12等位基因在对照组和疾病组中均以三个频率峰值分布。将等位基因分为（GG）、（GA）、（AA）类型后发现，不育患者（无精子症和弱精子症）与正常对照者之间存在显著差异（p=0.005）。
根据我们的研究结果，我们认为SEPT12基因中的G5508A多态性可能影响男性的精子发生，这一观点需要在不同人群中进行更多研究。
