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Study of GT-repeat expansion in Heme oxygenase-1 gene promoter as genetic cause of male infertility

  • Genetics
  • Published:
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Abstract

Purpose

The length of GT-repeats polymorphic region in the promoter of human Heme oxygenase-1 gene (HO-1) alters the level of its transcriptional activity in response to oxidative stresses. Decreased level of HO-1 protein in the seminal plasma has been reported to be associated with oligospermia and azoospermia in male infertility. This is the first study to investigate the association between GT-repeats expansion in the promoter of the HO-1 gene and male infertility.

Methods

The frequencies of different GT-repeats alleles in the promoter of HO-1 gene were determined in 100 cases and 100 normal controls using PCR-PAGE, ABI fragment analysis genotyping and sequencing analysis.

Results

All alleles were classified into S and L alleles. S alleles were specified as number 0 to 3 with <27 GT-repeats and L alleles were specified as number 4 to 6 with >27 repeats. The L allele frequency was significantly higher among case group (54.5%) than that was obtained in the normal control group (37.5%). Statistical analysis provided a significant relationship between L allele and male infertility (P < 0.001).

Conclusions

This study shows for the first time that GT-repeats expansion in promoter of the HO-1 gene is associated with oligospermia and azoospermia among Iranian infertile cases.

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Acknowledgments

The authors wish to thank all members of the National Institute of Genetic Engineering and Biotechnology who have contributed to our research. We would also like to acknowledge particularly all collaborators from Navid Infertility Center and patients who took part in our research.

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Authors and Affiliations

  1. Tarbiat Modarres University, Tehran, Iran

    Elham Siasi & Seyed Javad Mowla

  2. National Institute of Genetic Engineering and Biotechnology, Tehran, Iran

    Ahmad Aleyasin

  3. Navide Institute of Infertility, Tehran, Iran

    Hamid Sahebkashaf

Authors
  1. Elham Siasi
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  2. Ahmad Aleyasin
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  3. Seyed Javad Mowla
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  4. Hamid Sahebkashaf
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Corresponding author

Correspondence to Ahmad Aleyasin.

Additional information

Capsule

An association between extended GT-repeats polymorphism in the promoter of HO-1 gene and oligospermia and azoospermia in infertile men has been identified for the first time in Iranian cases (P = 0.001).

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Siasi, E., Aleyasin, A., Mowla, S.J. et al. Study of GT-repeat expansion in Heme oxygenase-1 gene promoter as genetic cause of male infertility. J Assist Reprod Genet 28, 737–741 (2011). https://doi.org/10.1007/s10815-011-9574-0

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  • DOI: https://doi.org/10.1007/s10815-011-9574-0

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