Aim: The aim of the present study was to investigate the familial and somatic mutations as well as polymorphisms of TP53 gene in patients with uterine leiomyoma.
Methods: The study included 35 women with histologically diagnosed as uterine leiomyomas at the Gynecology Department of Adnan Menderes University Faculty of Medicine. Tissue and blood samples were analyzed for mutations and polymorphisms of TP53 gene by next generation sequencing (Miseq-Illumina). Acquired data was compared with the normal data in Ensembl database. Data from 1000 genome project and data from exome sequencing analyses in Intergen Genetic Diagnosis Center (Ankara) were used as controls for polymorphism analyses.
Results: There were no mutations in tissue and blood samples. However, when the polymorphisms were evaluated, a significant difference was found in NM_000546.5(TP53):c.215C > G (p.Pro72Arg) polymorphism between the study and control groups. The results indicated that P72R/P72R genotype increased the risk of leiomyoma development by 6.3 fold (95% confidence interval [CI]: 2.880-13.793). There was a negative correlation between P72R/WT genotype and leiomyoma development (OR = 0.261, 95% CI: 0.114-0.596). P72R/P72R genotype was statistically higher in the patients with leiomyoma compared with the controls and 1000 genomes from Asian, European and World populations.
Conclusion: The results of the present study suggested that P72R/P72R genotype may be associated with development of uterine leiomyoma in the Turkish population in the Western part of the country.
Keywords: TP53 gene; genotype; leiomyoma; mutation; polymorphism.
© 2019 Japan Society of Obstetrics and Gynecology.