PT  - JOURNAL ARTICLE
AU  - Lyailya Kh Dzhemlikhanova
AU  - Olga A Efimova
AU  - Natalia S Osinovskaya
AU  - Sergey E Parfenyev
AU  - Dariko A Niauri
AU  - Iskender Yu Sultanov
AU  - Olga V Malysheva
AU  - Anna A Pendina
AU  - Natalia Yu Shved
AU  - Tatyana E Ivashchenko
AU  - Maria I Yarmolinskaya
AU  - Maka I Kakhiani
AU  - Ekaterina A Gorovaya
AU  - Antonina N Tkachenko
AU  - Vladislav S Baranov
TI  - Catechol-O-methyltransferase Val158Met polymorphism is associated with increased risk of multiple uterine leiomyomas either positive or negative for <em>MED12</em> exon 2 mutations
AID  - 10.1136/jclinpath-2016-203976
DP  - 2017 Mar 01
TA  - Journal of Clinical Pathology
PG  - 233--236
VI  - 70
IP  - 3
4099  - http://jcp.bmj.com/content/70/3/233.short
4100  - http://jcp.bmj.com/content/70/3/233.full
SO  - J Clin Pathol2017 Mar 01; 70
AB  - 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 χ2 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.