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

  • Elham Siasi
  • Ahmad Aleyasin
  • Seyed Javad Mowla
  • Hamid Sahebkashaf
Genetics

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.

Keywords

Male infertility Heme oxygenase-1 gene Polymorphism Oxidative stress 

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Copyright information

© Springer Science+Business Media, LLC 2011

Authors and Affiliations

  • Elham Siasi
    • 1
  • Ahmad Aleyasin
    • 2
  • Seyed Javad Mowla
    • 1
  • Hamid Sahebkashaf
    • 3
  1. 1.Tarbiat Modarres UniversityTehranIran
  2. 2.National Institute of Genetic Engineering and BiotechnologyTehranIran
  3. 3.Navide Institute of InfertilityTehranIran

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