Investigation of GRTH gene single nucleotide polymorphism in association with male infertility in Iranian population

Introduction: GRTH gene is located on chromosome 11q24 and consists of 14 exons. GRTH codes for a protein product which is involved in testicular function and spermatogenesis. The absence of this gene can lead to gametogenesis arrest. The purpose of this study was to investigate the association of SNP IVS6+55G -> T (rs551373) in DDX25/GRTH gene with male infertility. Methods: In this case-control study, DNA samples were extracted from 180 men, including 90 fertile men and 90 infertile cases with azoospermia by Salting out method. PCR-RFLP was conducted to identify the SNP in DDX25/GRTH gene. Results: According to statistical analyses carried out in SPSS and SNPstats online software, the SNP rs551373 is significantly associated with azoospermic cases studied. Conclusion: The results of our study suggest that positive association of rs551373 SNP probably reveals an important role in azoospermia male infertility. Further studies with larger sample size are required to support our findings. Investigation of association of this SNP with other types of non-obstructive male infertility is also suggested.