Abstract
Context. Uterine fibroids, also known as uterine leiomyomas, are monoclonal tumours of the smooth muscle tissu layer (myometrium). They are characterised by high levels of collagen and fibronectin and are most common in women of reproductive age. Despite the efforts made, the etiology fibroids remain unknow particulary in african women which present a higher risk than caucasian. Objective.The objective is to evaluate the involvement of COMT gene mutations in the evolution of uterine fibroids in Senegalese women. Methods. We analysed the variability of the COMT gene in 44 patients by PCR-sequencing.We proceeded first to the verification, cleaning, alignment of the sequences obtained, then to the search for mutations and their pathogenicity and finally to a genetic characterization with the aim of determining the penetrance of the COMT gene in the evolution of fibroids. Results.Analysis show that the Val158Met polymorphism (rs4680) is considered to be the main cause of variation in COMTactivity. Our data suggest that this polymorphism is a causal factor in the incidence of uterine fibroids by allowing a higher estrogenic activity in myometrial cells.
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