• Evaluation of rs10129954 polymorphism of DPF3 gene with non-obstructive azoospermia in Iranian men referring to Royan Institute
  • Maryam Asnavandi,1 Abolhasan Shahzadeh Fazeli,2,* Salahadin Bahrami,3 Mohammad Ali Seddighi Gilani,4
    1. Department of Genetics at Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Iran
    2. Department of Genetics at Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Iran
    3. Department of Genetics at Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Iran
    4. Kidney and urinary tract surgeon specialist (urology), Tehran, Iran


  • Introduction: Infertility is a major health problem worldwide and is estimated to affect 8–12% of couples in the reproductive age group. A large number of infertile men are suffering from idiopathic infertility. This infertility can be the result of mutations or other changes in the genes involved in spermatogenesis. Genetic factors account for at least 15% of male infertility. Men with azoospermia are at the highest risk of being carriers ofgenetic anomalies (25%). The most abundant source of genetic variation in the human genome is represented by single nucleotide polymorphisms. The polymorphism studied in this research is in the intronic region of the DPF3 gene (rs1012995). DPF3 is an important regulator of gene expression that acts through nucleosome repositioning. Double PHD fingers 3 (DPF3) is a human epigenetic factor found in the multi protein BRG1-associated factor (BAF) chromatin remodeling complex. Considering the important role of epigenetic factors in spermatogenesis, polymorphism in this gene can affect the function of this gene and these disorders may be associated with infertility in men. The aim of this study was to investigate the DPF3 gene polymorphism (rs10129954) in non-obstructive azoospermia patients in Iranian men referred to Royan Institute.
  • Methods: We studied this polymorphism in 96 infertile men with idiopathic azoospermia, and 100 fertile men with normozoospermia as a control group. DPF3 gene polymorphism (rs10129954) was analyzed using the ARMS PCR. to investigate the differences in genotypic and allelic frequency distribution between two groups Fisher's exact test and Chi-square test was used.
  • Results: Results showed that out of 96 infertile men, 19 (19.8%) had CC genotype, 33 (34.4%) had CT and 44 (45.8%) had TT genotype. Of the 100 fertile controls, 33 (33%) had CC genotype, 49 (49%) had CT genotype and 18 (18%) had TT genotype and P<0.001.
  • Conclusion: According to the obtained results, polymorphism (rs10129954) of DPF3 gene has a significant relationship with idiopathic infertility caused by non-obstructive azoospermia. In order to better understand the effective genetic factors, more research and larger populations are needed.
  • Keywords: DpF3 gene - Male infertility – Azoospermia - Polymorphism