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Journal of clinical pathology v.70 no.3, 2017년, pp.233 - 236   SCI SCIE
본 등재정보는 저널의 등재정보를 참고하여 보여주는 베타서비스로 정확한 논문의 등재여부는 등재기관에 확인하시기 바랍니다.

Catechol-O-methyltransferase Val158Met polymorphism is associated with increased risk of multiple uterine leiomyomas either positive or negative for MED12 exon 2 mutations

Dzhemlikhanova, Lyailya Kh (D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology, , St. Petersburg, Russia ) ; Efimova, Olga A (D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology, , St. Petersburg, Russia ) ; Osinovskaya, Natalia S (D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology, , St. Petersburg, Russia ) ; Parfenyev, Sergey E (St. Petersburg State University, , St. Petersburg, Russia ) ; Niauri, Dariko A (D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology, , St. Petersburg, Russia ) ; Sultanov, Iskender Yu (D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology, , St. Petersburg, Russia ) ; Malysheva, Olga V (D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology, , St. Petersburg, Russia ) ; Pendina, Anna A (D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology, , St. Petersburg, Russia ) ; Shved, Natalia Yu (D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology, , St. Petersburg, Russia ) ; Ivashchenko, Tatyana E (D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology, , St. Petersburg, Russia ) ; Yarmolinskaya, Maria I (D.O. Ott Research Institute of ) ; Kakhiani, Maka I ; Gorovaya, Ekaterina A ; Tkachenko, Antonina N ; Baranov, Vladislav S ;
  • 초록  

    Aims To study the possible association of catechol-O-methyltransferase ( COMT) Val158Met polymorphism with multiple and solitary uterine leiomyomas (ULs) and to check whether the COMT Val/Val genotype is associated with MED12 exon 2 mutations in fibroids. Methods The COMT Val158Met allele and genotype frequencies were compared between age-matched women with ULs (n=104) and controls (n=59). Patients with UL were subcategorised by diagnosis of solitary (n=59) or multiple (n=45) fibroids and by the presence of somatic MED12 exon 2 mutations in at least one fibroid (n=32) or in neither fibroid (n=26). The association of COMT Val/Val genotype with the presence of any ULs, solitary/multiple ULs and ULs positive/negative for MED12 exon 2 mutations was evaluated by χ 2 tests using a dominant genotype model (G/G vs G/A+A/A) and expressed as ORs and 95% CIs. Results The COMT Val/Val genotype frequency did not differ between the patients with UL and the controls (28.8% vs 18.6%, p=0.149, OR 1.77; CI 0.81 to 3.86). However, it was significantly higher in the patients who had multiple UL compared with the solitary UL (40% vs 20.3%, p=0.028, OR 2.61; CI 1.09 to 6.24) and to the controls (40% vs 18.6%, p=0.016, OR 2.91; CI 1.20 to 7.06). No association of the COMT Val/Val genotype with UL-specific MED12 exon 2 mutations was found (p=0.662, OR 0.77; CI 0.23 to 2.53). Conclusions Women with COMT Val/Val genotype are at high risk of developing multiple uterine fibroids either positive or negative for MED12 exon 2 mutations. These data are important to design new strategies for UL prophylaxis and treatment.


  • 주제어

    UTERUS .   GENETICS .   HORMONE .   FERTILITY.  

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