• PMID: 29227750
• Gene Name: PRM1
• Condition: Male factor infertility
• Association: Associated
• Mutation: PRM1 c.-190C>A, PRM1 c.197G>T, and PRM2 c.248C>T, YBX2 (c.187T>C and c.1095?+?16A>G)
• Population size: 200
• Population details: 200 (100 infertile and 100 fertile Turkish men)
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: Male factor infertility

Genetic Polymorphisms in PRM1, PRM2, and YBX2 Genes are Associated with Male Factor Infertility

Aydos OSE, Hekmatshoar Y, Alt?nok B, Özkan T, ?akira?ao?lu O, Karada? A, Kaplan F, Ilgaz S, Ta?p?nar M, Yükselen I, Sunguro?lu A, Aydos K.

AIMS: The etiology of infertility is still unknown in almost half of all male infertility patients. In sperm, DNA condensation differs from somatic and female gamete cells, with the protamine (PRM) gene and its transcription factor, Y-box binding protein 2 (YBX2), playing key roles in making the structure more compact. Protamine polymorphisms have been studied in different populations, but various results have been acquired. MATERIALS AND METHODS: In our study, we examined, for the first time in a Turkish population, the association between protamine gene alleles (PRM1 c.-190C>A, PRM1 c.197G>T, and PRM2 c.248C>T), and YBX2 (c.187T>C and c.1095 + 16A>G) and male infertility. This was accomplished using polymerase chain reaction-restriction fragment length polymorphism analyses of 100 infertile and 100 fertile Turkish men. Sperm DNA fragmentation analysis was performed using the Comet technique. RESULTS: We found that the AA and CA genotypes of the PRM1 c.-190C>A polymorphism had a significant association with infertility (p < 0.001) and the AA genotype was also highly significantly associated with high sperm DNA damage (p < 0.001). CONCLUSION: This study demonstrates that the PRM1 c.-190C>A polymorphism is associated with sperm DNA fragmentation, which may impact male infertility in the Turkish population. Further research with larger groups and in various other study populations will be required to clarify the impact of protamine and YBX2 gene polymorphisms on male infertility. FAU - Aydos, Oya Sena E AU - Aydos OSE AD - 1 Department of Medical Biology, School of Medicine, Ankara University , Ankara, Turkey . FAU - Hekmatshoar, Yalda AU - Hekmatshoar Y AD - 1 Department of Medical Biology, School of Medicine, Ankara University , Ankara, Turkey . FAU - Altınok, Buket AU - Altınok B AD - 1 Department of Medical Biology, School of Medicine, Ankara University , Ankara, Turkey . AD - 2 Medical Laboratory Techniques, Vocational School of Health Services, Ankara University , Ankara, Turkey . FAU - Özkan, Tülin AU - Özkan T AD - 1 Department of Medical Biology, School of Medicine, Ankara University , Ankara, Turkey . FAU - Şakirağaoğlu, Onur AU - Şakirağaoğlu O AD - 1 Department of Medical Biology, School of Medicine, Ankara University , Ankara, Turkey . FAU - Karadağ, Aynur AU - Karadağ A AD - 1 Department of Medical Biology, School of Medicine, Ankara University , Ankara, Turkey . AD - 3 Department of Medical Biology, School of Medicine, Uşak University , Uşak, Turkey . FAU - Kaplan, Fuat AU - Kaplan F AD - 1 Department of Medical Biology, School of Medicine, Ankara University , Ankara, Turkey . AD - 4 Health Science Institute, Biochemistry, Hacettepe University , Ankara, Turkey . FAU - Ilgaz, Seda AU - Ilgaz S AD - 1 Department of Medical Biology, School of Medicine, Ankara University , Ankara, Turkey . AD - 5 Department of Medical Biology, School of Medicine, Çukurova University , Adana, Turkey . FAU - Taşpınar, Mehmet AU - Taşpınar M AD - 1 Department of Medical Biology, School of Medicine, Ankara University , Ankara, Turkey . AD - 6 Department of Medical Biology, School of Medicine, Yüzüncü Yıl University , Van, Turkey . FAU - Yükselen, Işıl AU - Yükselen I AD - 1 Department of Medical Biology, School of Medicine, Ankara University , Ankara, Turkey . FAU - Sunguroğlu, Asuman AU - Sunguroğlu A AD - 1 Department of Medical Biology, School of Medicine, Ankara University , Ankara, Turkey .