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

  • Genetics
  • Published:
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Abstract

Purpose

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.

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Acknowledgements

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

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Author notes

    Authors and Affiliations

    1. Department of Andrology, Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Iran

      Seyedeh Hanieh Hosseini, Mohammad Ali Sadighi Gilani & Marjan Sabbaghian

    2. Department of Urology, Shariati Hospital, Tehran University of Medical Sciences, Tehran, Iran

      Mohammad Ali Sadighi Gilani

    3. Department of Genetics, Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Iran

      Anahita Mohseni Meybodi

    Authors
    1. Seyedeh Hanieh Hosseini
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    2. Mohammad Ali Sadighi Gilani
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    3. Anahita Mohseni Meybodi
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    4. Marjan Sabbaghian
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    Corresponding author

    Correspondence to Marjan Sabbaghian.

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    The authors declare that they have no conflict of interest.

    Funding

    This work was supported by Royan Institute funds.

    Additional information

    Capsule This is the first report concerning the role of RABL2B gene in human male infertility. Nucleotide deletion (rs144944885) in RABL2B could alter a splicing factor target site and would be a risk factor in oligoasthenoteratozoospermic infertile men. Also a new genetic variant of RABL2B was identified in this study.

    Anahita Mohseni Meybodi and Marjan Sabbaghian contributed equally to this work.

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    Hosseini, S.H., Sadighi Gilani, M.A., Meybodi, A.M. et al. The impact of RABL2B gene (rs144944885) on human male infertility in patients with oligoasthenoteratozoospermia and immotile short tail sperm defects. J Assist Reprod Genet 34, 505–510 (2017). https://doi.org/10.1007/s10815-016-0863-5

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    • DOI: https://doi.org/10.1007/s10815-016-0863-5

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