title: New single nucleotide polymorphism G5508A in the SEPT12 gene may be associated with idiopathic male infertility in Iranian men.
abstract: 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.
  
  
  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).
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Genetics, Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Iran.
authors.forename: Maryam
authors.initials: M
authors.lastname: Shahhoseini
authors.affiliation: Department of Genetics, Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Iran.
authors.forename: Mahnaz
authors.initials: M
authors.lastname: Azad
authors.affiliation: Department of Andrology, Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Iran.
authors.forename: Marjan
authors.initials: M
authors.lastname: Sabbaghian
authors.affiliation: Department of Andrology, Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Iran.
authors.forename: Maryam
authors.initials: M
authors.lastname: Shafipour
authors.affiliation: Department of Epidemiology and Reproductive Health, Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Iran.
authors.forename: Mohammad Reza
authors.initials: MR
authors.lastname: Akhoond
authors.affiliation: Department of Andrology, Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Iran.
authors.forename: Reza
authors.initials: R
authors.lastname: Salman-Yazdi
authors.affiliation: Department of Andrology, Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Iran.
authors.forename: Mohammad Ali
authors.initials: MA
authors.lastname: Sadighi Gilani
authors.affiliation: Department of Genetics, Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Iran.
authors.forename: Hamid
authors.initials: H
authors.lastname: Gourabi
keywords: Male infertility; Polymorphism; SEPT12; Septin; Spermatogenesis