HRM screening of the UBC9 gene encoding the SUMO-E2-conjugating enzyme — case-control study in breast cancer

• Datum: 2023
• Hauptverfasser: Bialik, P., Wysokinski, D., Slomka, M., Morawiec, Z., Strapagiel, D., Wozniak, K.
• Format: Artikel
• Sprache: English
• Veröffentlicht: PH Akademperiodyka 2023
• Schlagworte: breast cancer; gene polymorphism; high resolution melting method; sumoylation; UBC9 gene
• Online Zugang: https://exp-oncology.com.ua/index.php/Exp/article/view/2020-2-12
• Назва журналу: Experimental Oncology

Summary. Aim: UBC9 (E2) small ubiquitin-like modifier conjugating enzyme plays a key role in the post-translational modification of proteins named sumoylation. Defects in small ubiquitin-like modifier modification may contribute to breast carcinogenesis. In the present work, we examined UBC9 genetic variation. Materials and Methods: UBC9 genetic variation was analyzed by using the high resolution melting (HRM) method. HRM study was conducted on 173–182 healthy women and 188–190 women with breast cancer. Results: During HRM screening, we analysed three known single-nucleotide polymorphisms in introns: rs4984806, rs909916 and rs909917, and one known single nucleotide polymorphism rs8063 in exon 7, in a non-coding region. The genotype frequencies for all polymorphisms were in accordance with Hardy — Weinberg equilibrium among the control subjects and breast cancer patients. The linkage disequilibrium analysis displayed that there was one polymorphism block, which consisted of three single nucleotide polymorphisms: rs909916, rs909917 and rs4984806. We identified two common haplotypes CCG and TTC, but we did not find significant differences in the distribution of these haplotypes between cases and controls. Conclusion: Our study showed no differences in the occurrence of indicated polymorphisms in the UBC9 gene in a group of healthy women compared to women with breast cancer. These results suggest that the polymorphisms of the UBC9 gene — rs4984806, rs909916, rs909917 and rs8063 can be not associated with breast cancer risk.