Abstract
Purpose
The present study is a case–control analysis of a SNP (rs28368082) in exon 7 of the SPO11 gene and its possible association with male infertility in three provinces of Iran. We also searched for genetic differences among populations.
Methods
Using Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR-RFLP) analysis, we genotyped 113 infertile men and 50 fertile controls. Then, samples consisting SNP, as determined by PCR-RFLP, were genotyped by sequencing. The differences in genotype distributions between cases and fertile controls were examined using Chi-squared analysis. The genetic difference between individuals with mutated nucleotide was investigated by phylogenetic trees. Genetic difference among populations (provinces) was analyzed through ANOVA test, and homogeneity was investigated using STRUCTURE and K-means clustering analysis.
Results
According to the statistical analysis, the SNP was significantly associated with male infertility in all populations except oligozoospermic cases of the Center region. The phylogenetic trees showed partial genetic variation among the individuals, although ANOVA test showed no significant genetic difference between populations (provinces) for both azoospermic, and oligozoospermic cases. Eventually, we affirmed that individuals in the inclusive populations had genetic difference, but it was not statistically significant for dividing underlying populations to separate groups, so each population was homogenous.
Conclusion
Our study indicates that the mentioned polymorphism in SPO11 gene may be linked to the susceptibility of azoospermia and oligozoospermia male infertility in three provinces of Iran. Further studies are required to support obtained results. It finally should be noted that the possible association between a particular SNP and a specific disease completely depends on the underlying population.
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Acknowledgments
We acknowledge Shahid Beheshti University for supporting this study. Special thanks to Dr. Mohseni for helping in performing the study. We thank all the clinicians (Mrs. Mokhtari and et al.) who provided samples for this study from the Molecular laboratory unit of the Royan Institute of Tehran. We also thank patients and volunteers for their participation in the study.
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A case–control study was designed to investigate the possible association between an SNP in SPO11 gene and azoospermia, oligozoospermia male infertility in three provinces of Iran, according to our data the SNP was associated with male infertility in all populations except oligozoospermic cases of the Center region.
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Ghalkhani, E., Sheidai, M., Gourabi, H. et al. Study of single nucleotide polymorphism (rs28368082) in SPO11 gene and its association with male infertility. J Assist Reprod Genet 31, 1205–1210 (2014). https://doi.org/10.1007/s10815-014-0279-z
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DOI: https://doi.org/10.1007/s10815-014-0279-z