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Molecular and in silico evidence: DR4 gene rs20576 and rs6557634 variants are effective in the development of uterine leiomyoma
Tolga HALICI1, Eren AKBABA2, Çilem ÖZDEMİR3, Bahadır DEDE4, Burak SEZGİN2, Tuba EDGÜNLÜ51Department of Obstetrics and Gynaecology, Muğla Sıtkı Koçman University Faculty of Medicine, Muğla, Türkiye and Clinic of Obstetrics and Gynaecology, Muğla Training and Research Hospital, Muğla, Türkiye, 2Department of Obstetrics and Gynaecology, Muğla Sıtkı Koçman University Faculty of Medicine, Muğla, Türkiye, 3Department of Medical Biology, Muğla Sıtkı Koçman University Health Sciences Institution, Muğla, Türkiye, 4Department of Community Health, Muğla Sıtkı Koçman University Faculty of Medicine, Muğla, Türkiye, 5Department of Medical Biology, Muğla Sıtkı Koçman University Faculty of Medicine, Muğla, Türkiye
Objectives: Leiomyomas are the most common benign tumours in women of reproductive age. In this study, we aimed to investigate the role of death receptor 4 (DR4) gene polymorphisms in the pathogenesis of leiomyoma. Materials and Methods: In our study, 76 patients were diagnosed with leiomyoma and 81 patients without leiomyoma as healthy controls. The polymerase chain reaction-restriction fragment length polymorphism method was used to identify DR4 polymorphisms. We also determined the protein function and stability of rs20576 and rs6557634 variants by in silico approaches. Results: There was a difference in the distribution of the genotypes of DR4 gene rs20576 and rs6557634 polymorphisms between leiomyoma patients and health control groups (p=0.014 and p=0.039, respectively). In addition, the distribution of C alelle frequency of rs20576 and G allelle frequency of rs6557634 were significantly higher in leiomyoma patients (p=0.018 and p=0.029, respectively) and the A allele of both rs20576 and rs6557634 has had a protective effect against leiomyoma. According to in silico analysis results, rs20576 and rs6557634 havedeleterious effects on protein function and structure. Conclusion: The present results showed the association of gene variants of DR4 with leiomyomas. In addition, DR4 gene rs20576 and rs6557634polymorphisms effectively decrease protein stability and function. Further studies may be done on various polymorphisms belonging to DR4 receptors.
Cite This Article
HALICI T, AKBABA E, ÖZDEMİR Ç, DEDE B, SEZGİN B, EDGÜNLÜ T. Molecular and in silico evidence: DR4 gene rs20576 and rs6557634 variants are effective in the development of uterine leiomyoma. 2024; 43(1): 4-11
Corresponding Author: HALICI T.
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