Catechol-O-methyltransferase Val158Met polymorphism is associated with increased risk of multiple uterine leiomyomas either positive or negative forMED12exon 2 mutations

Catechol-O-methyltransferase Val158Met polymorphism is associated with increased risk of multiple uterine leiomyomas either positive or negative forMED12exon 2 mutations Full article

Journal

Journal of Clinical Pathology
ISSN: 1472-4146 , E-ISSN: 0021-9746

Output data

Year: 2017, Volume: 70, Number: 3, Pages: 233-236 Pages count : 4 DOI: 10.1136/jclinpath-2016-203976

Authors

Dzhemlikhanova Lyailya Kh ^1,2 , Efimova Olga A ^1,2 , Osinovskaya Natalia S ¹ , Parfenyev Sergey E ² , Niauri Dariko A ^1,2 , Sultanov Iskender Yu ¹ , Malysheva Olga V ¹ , Pendina Anna A ^1,2 , Shved Natalia Yu ¹ , Ivashchenko Tatyana E ¹ , Yarmolinskaya Maria I ¹ , Kakhiani Maka I ¹ , Gorovaya Ekaterina A ² , Tkachenko Antonina N ³ , Baranov Vladislav S ^1,2

Affiliations

1	D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology, St. Petersburg, Russia
2	St. Petersburg State University, St. Petersburg, Russia
3	Maternity Hospital of St. Petersburg №6, St. Petersburg, Russia

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.

Dzhemlikhanova L.K. , Efimova O.A. , Osinovskaya N.S. , Parfenyev S.E. , Niauri D.A. , Sultanov I.Y. , Malysheva O.V. , Pendina A.A. , Shved N.Y. , Ivashchenko T.E. , Yarmolinskaya M.I. , Kakhiani M.I. , Gorovaya E.A. , Tkachenko A.N. , Baranov V.S.
Catechol-O-methyltransferase Val158Met polymorphism is associated with increased risk of multiple uterine leiomyomas either positive or negative forMED12exon 2 mutations
Journal of Clinical Pathology. 2017. V.70. N3. P.233-236. DOI: 10.1136/jclinpath-2016-203976 WOS Scopus

Submitted:	Jun 25, 2016
Accepted:	Jul 13, 2016

Web of science:	WOS:000395528500008
Scopus:	2-s2.0-84982791170

DB	Citing
Web of science	11
Scopus	12