title: The impact of RABL2B gene (rs144944885) on human male infertility in patients with oligoasthenoteratozoospermia and immotile short tail sperm defects.
abstract: OBJECTIVE
  Male infertility is a multifactorial disorder with impressively genetic basis; besides, sperm abnormalities are the cause of numerous cases of male infertility. In this study, we evaluated the genetic variants in exons 4 and 5 and their intron-exon boundaries in RABL2B gene in infertile men with oligoasthenoteratozoospermia (OAT) and immotile short tail sperm (ISTS) defects to define if there is any association between these variants and human male infertility.
  
  
  METHODS
  To this purpose, DNA was extracted from peripheral blood and after PCR reaction and sequencing, the results of sequenced segments were analyzed. In the present study, 30 infertile men with ISTS defect and 30 oligoasthenoteratozoospermic infertile men were recruited. All men were of Iranian origin and it took 3 years to collect patient's samples with ISTS defect.
  
  
  RESULTS
  As a result, the 50776482 delC intronic variant (rs144944885) was identified in five patients with oligoasthenoteratozoospermia defect and one patient with ISTS defect in heterozygote form. This variant was not identified in controls. The allelic frequency of the 50776482 delC variant was significantly statistically higher in oligoasthenoteratozoospermic infertile men (p < 0.05). Bioinformatics studies suggested that the 50776482 delC allele would modify the splicing of RABL2B pre-mRNA. In addition, we identified a new genetic variant in RABL2B gene.
  
  
  CONCLUSIONS
  According to the present study, 50776482 delC allele in the RABL2B gene could be a risk factor in Iranian infertile men with oligoasthenoteratozoospermia defect, but more genetic studies are required to understand the accurate role of this variant in pathogenesis of human male infertility.
authors.affiliation: Department of Andrology, Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Iran.
authors.forename: Seyedeh Hanieh
authors.initials: SH
authors.lastname: Hosseini
authors.affiliation: Department of Andrology, Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Iran.|Department of Urology, Shariati Hospital, Tehran University of Medical Sciences, 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: Anahita Mohseni
authors.initials: AM
authors.lastname: Meybodi
authors.affiliation: Department of Andrology, Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Iran. marjan.sabbaghian@gmail.com.
authors.forename: Marjan
authors.initials: M
authors.lastname: Sabbaghian
mesh_terms: D053627:Asthenozoospermia / Q000235:genetics* / Q000473:pathology; D005787:Gene Frequency; D014644:Genetic Variation; D006801:Humans; D007248:Infertility, Male / Q000235:genetics* / Q000473:pathology; D008297:Male; D009845:Oligospermia / Q000235:genetics* / Q000473:pathology; D013082:Sperm Tail / Q000378:metabolism / Q000473:pathology; D013094:Spermatozoa / Q000473:pathology; D020691:rab GTP-Binding Proteins / Q000235:genetics*
chemical_list: C513286:RABL2B protein, human; D020691:rab GTP-Binding Proteins
keywords: Immotile short tail sperm; Male infertility; Oligoasthenoteratozoospermia; RABL2B gene