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Genetic polymorphisms and haplotypes of the DJ-1 gene promoter associated with the susceptibility to male infertility

  • Genetics
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Abstract

Purpose

In this study, we evaluate the relationship between genetic polymorphisms of the DJ-1 gene, g.-6_+10del, and g.168_185del with male infertility susceptibility.

Methods

Four hundred and twenty-two male infertile patients and 285 fertile male controls were recruited. Genotyping was performed by polymerase chain reaction. In silico analysis was performed by EPD, ElemeNT, SNPnexus, and PROMO to predict the potential functions of rs901561484 and rs373653682 polymorphisms.

Results

The Del (D) allele carriers of DJ-1 g.-6_+10del polymorphism were significantly associated with the risk of male infertility in total infertile, asthenozoospermia, and oligoasthenozoospermia patients. Moreover, the Del (D) allele of DJ-1 g.-6_+10del polymorphism significantly increased in total male infertile, asthenozoospermia, and oligoasthenozoospermia groups. In addition, the frequencies of different genotypes and the Del allele and Dup allele carriers of DJ-1 g.168_185del gene polymorphisms were associated with male infertility in total infertile and four different sub-group patients. Furthermore, haplotype analysis of DJ-1 g.-6_+10del and g.168_185del polymorphisms revealed that the D-Dup and I-Del haplotype frequencies significantly increased the risk of male infertility, while I-Ins haplotypes were associated with a decreased risk of male infertility in total and sub-group patients. The in silico analysis showed that the presence of Ins and/or Dup alleles of the DJ-1 g.-6_+10del and g.168_185del polymorphisms could provide additional binding sites of more nuclear factors and probably affect transcriptional activity.

Conclusion(s)

Our study presents evidence of a strong association between functional polymorphisms of the DJ-1 promoter, g.-6_+10del, and g.168_185del with the risk of male infertility.

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Funding

The study was supported by a grant from the University of Mazandaran, dedicated to the PhD thesis of Danial Jahantigh (registered no. 1394.6.8).

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Authors and Affiliations

  1. Department of Molecular and Cell Biology, Faculty of Basic Sciences, University of Mazandaran, Babolsar, 47416-95447, Iran

    Danial Jahantigh & Abasalt Hosseinzadeh Colagar

  2. Cellular and Molecular Research Center, Zahedan University of Medical Sciences, Zahedan, Iran

    Saeedeh Salimi

  3. Department of Clinical Biochemistry, School of Medicine, Zahedan University of Medical Sciences, Zahedan, Iran

    Saeedeh Salimi

Authors
  1. Danial Jahantigh
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  2. Abasalt Hosseinzadeh Colagar
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  3. Saeedeh Salimi
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Corresponding author

Correspondence to Abasalt Hosseinzadeh Colagar.

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Informed consent was obtained from all subjects, and the study protocol was approved by the ethics committee of the University of Mazandaran and conducted in accordance with the Declaration of Helsinki.

Conflict of interest

The authors declare that they have no competing interests.

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Jahantigh, D., Hosseinzadeh Colagar, A. & Salimi, S. Genetic polymorphisms and haplotypes of the DJ-1 gene promoter associated with the susceptibility to male infertility. J Assist Reprod Genet 34, 1673–1682 (2017). https://doi.org/10.1007/s10815-017-1033-0

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  • DOI: https://doi.org/10.1007/s10815-017-1033-0

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