Journal of Assisted Reproduction and Genetics

, Volume 34, Issue 4, pp 505–510 | Cite as

The impact of RABL2B gene (rs144944885) on human male infertility in patients with oligoasthenoteratozoospermia and immotile short tail sperm defects

  • Seyedeh Hanieh Hosseini
  • Mohammad Ali Sadighi Gilani
  • Anahita Mohseni Meybodi
  • Marjan Sabbaghian



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.


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.


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.


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.


Immotile short tail sperm Oligoasthenoteratozoospermia RABL2B gene Male infertility 



We thank Amir Amiri-Yekta and Sajjad Sarikhan for kindly helping during the study. Also, we appreciate all patients who cooperated in this research.

Compliance with ethical standards

Conflict of interest

The authors declare that they have no conflict of interest.


This work was supported by Royan Institute funds.


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Copyright information

© Springer Science+Business Media New York 2017

Authors and Affiliations

  • Seyedeh Hanieh Hosseini
    • 1
  • Mohammad Ali Sadighi Gilani
    • 1
    • 2
  • Anahita Mohseni Meybodi
    • 3
  • Marjan Sabbaghian
    • 1
  1. 1.Department of Andrology, Reproductive Biomedicine Research CenterRoyan Institute for Reproductive Biomedicine, ACECRTehranIran
  2. 2.Department of Urology, Shariati HospitalTehran University of Medical SciencesTehranIran
  3. 3.Department of Genetics, Reproductive Biomedicine Research CenterRoyan Institute for Reproductive Biomedicine, ACECRTehranIran

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