{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,9]],"date-time":"2026-04-09T20:29:56Z","timestamp":1775766596474,"version":"3.50.1"},"reference-count":32,"publisher":"BMJ","issue":"3","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["J Clin Pathol"],"accepted":{"date-parts":[[2016,7,13]]},"published-print":{"date-parts":[[2017,3]]},"abstract":"<jats:sec>\n                  <jats:title>Aims<\/jats:title>\n                  <jats:p>To study the possible association of catechol-O-methyltransferase (<jats:italic>COMT)<\/jats:italic> Val158Met polymorphism with multiple and solitary uterine leiomyomas (ULs) and to check whether the <jats:italic>COMT<\/jats:italic> Val\/Val genotype is associated with <jats:italic>MED12<\/jats:italic> exon 2 mutations in fibroids.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>The <jats:italic>COMT<\/jats:italic> 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 <jats:italic>MED12<\/jats:italic> exon 2 mutations in at least one fibroid (n=32) or in neither fibroid (n=26). The association of <jats:italic>COMT<\/jats:italic> Val\/Val genotype with the presence of any ULs, solitary\/multiple ULs and ULs positive\/negative for <jats:italic>MED12<\/jats:italic> exon 2 mutations was evaluated by \u03c7<jats:sup>2<\/jats:sup> tests using a dominant genotype model (G\/G vs G\/A+A\/A) and expressed as ORs and 95% CIs.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>The <jats:italic>COMT<\/jats:italic> 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 <jats:italic>COMT<\/jats:italic> Val\/Val genotype with UL-specific <jats:italic>MED12<\/jats:italic> exon 2 mutations was found (p=0.662, OR 0.77; CI 0.23 to 2.53).<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>Women with <jats:italic>COMT<\/jats:italic> Val\/Val genotype are at high risk of developing multiple uterine fibroids either positive or negative for <jats:italic>MED12<\/jats:italic> exon 2 mutations. These data are important to design new strategies for UL prophylaxis and treatment.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1136\/jclinpath-2016-203976","type":"journal-article","created":{"date-parts":[[2016,8,4]],"date-time":"2016-08-04T23:03:46Z","timestamp":1470351826000},"page":"233-236","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":15,"title":["Catechol-O-methyltransferase Val158Met polymorphism is associated with increased risk of multiple uterine leiomyomas either positive or negative for <i>MED12<\/i> exon 2 mutations"],"prefix":"10.1136","volume":"70","author":[{"given":"Lyailya Kh","family":"Dzhemlikhanova","sequence":"first","affiliation":[{"name":"D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology, St. Petersburg, Russia"},{"name":"St. Petersburg State University, St. Petersburg, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4495-0983","authenticated-orcid":false,"given":"Olga A","family":"Efimova","sequence":"additional","affiliation":[{"name":"D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology, St. Petersburg, Russia"},{"name":"St. Petersburg State University, St. Petersburg, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Natalia S","family":"Osinovskaya","sequence":"additional","affiliation":[{"name":"D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology, St. Petersburg, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sergey E","family":"Parfenyev","sequence":"additional","affiliation":[{"name":"St. Petersburg State University, St. Petersburg, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dariko A","family":"Niauri","sequence":"additional","affiliation":[{"name":"D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology, St. Petersburg, Russia"},{"name":"St. Petersburg State University, St. Petersburg, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Iskender Yu","family":"Sultanov","sequence":"additional","affiliation":[{"name":"D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology, St. Petersburg, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Olga V","family":"Malysheva","sequence":"additional","affiliation":[{"name":"D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology, St. Petersburg, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna A","family":"Pendina","sequence":"additional","affiliation":[{"name":"D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology, St. Petersburg, Russia"},{"name":"St. Petersburg State University, St. Petersburg, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Natalia Yu","family":"Shved","sequence":"additional","affiliation":[{"name":"D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology, St. Petersburg, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tatyana E","family":"Ivashchenko","sequence":"additional","affiliation":[{"name":"D.O. 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