Beata Smolarz1, Hanna Romanowicz2. 1. Laboratory of Cancer Genetics, Department of Pathology, Polish Mother's Memorial Hospital Research Institute, Rzgowska 281/289, 93-338, Lodz, Poland. smolbea@wp.pl. 2. Laboratory of Cancer Genetics, Department of Pathology, Polish Mother's Memorial Hospital Research Institute, Rzgowska 281/289, 93-338, Lodz, Poland.
Abstract
PURPOSE: Endometriosis is a frequent gynaecological condition, both in Poland and in the world. The development of this disease is supported by hormonal, immunological and environmental factors. During the recent years, a particular attention has been focused on the genetic polymorphisms which may be of particular significance for the increased incidence rates of endometriosis. According to literature data, Oestrogen Receptor 2 (ESR2) and Cytochrome P450 Family 19 Subfamily A Member 1 (CYP19A1) genes may be accounted to the potential risk factors of infertility associated with endometriosis. The reported research was aimed to evaluate the association between single nucleotide polymorphisms (SNPs) rs17179740 of ESR2 and rs2899470 of CYP19A1 genes and the incidence of endometriosis. METHODS: The study material included blood specimens, collected from patients (n = 200) with endometriosis. Blood samples from age-matched, endometriosis-free women (n = 200) served as control. The High-Resolution Melter (HRM) technique was applied for polymorphism analysis. RESULTS: Regarding rs2899470 polymorphism TT homozygotes was significantly more prevalent among the patients with endometriosis than in the controls (OR 2.19; p = 0.04). In case of rs17179740, GG homozygotes, as well as AG-AA genotypes, were significantly more prevalent among the endometriosis patients (OR 2.48, p = 0.04 and OR 2.36, p = 0.04, respectively). CONCLUSION: Summing up, the investigated polymorphisms of ESR2 and CYP19A1 gene are associated with the observed incidence of endometriosis.
PURPOSE:Endometriosis is a frequent gynaecological condition, both in Poland and in the world. The development of this disease is supported by hormonal, immunological and environmental factors. During the recent years, a particular attention has been focused on the genetic polymorphisms which may be of particular significance for the increased incidence rates of endometriosis. According to literature data, Oestrogen Receptor 2 (ESR2) and Cytochrome P450 Family 19 Subfamily A Member 1 (CYP19A1) genes may be accounted to the potential risk factors of infertility associated with endometriosis. The reported research was aimed to evaluate the association between single nucleotide polymorphisms (SNPs) rs17179740 of ESR2 and rs2899470 of CYP19A1 genes and the incidence of endometriosis. METHODS: The study material included blood specimens, collected from patients (n = 200) with endometriosis. Blood samples from age-matched, endometriosis-free women (n = 200) served as control. The High-Resolution Melter (HRM) technique was applied for polymorphism analysis. RESULTS: Regarding rs2899470 polymorphism TT homozygotes was significantly more prevalent among the patients with endometriosis than in the controls (OR 2.19; p = 0.04). In case of rs17179740, GG homozygotes, as well as AG-AA genotypes, were significantly more prevalent among the endometriosispatients (OR 2.48, p = 0.04 and OR 2.36, p = 0.04, respectively). CONCLUSION: Summing up, the investigated polymorphisms of ESR2 and CYP19A1 gene are associated with the observed incidence of endometriosis.
Authors: G D Means; M S Mahendroo; C J Corbin; J M Mathis; F E Powell; C R Mendelson; E R Simpson Journal: J Biol Chem Date: 1989-11-15 Impact factor: 5.157
Authors: Fritz Wieser; Christian Schneeberger; Dan Tong; Clemens Tempfer; Johannes C Huber; Rene Wenzl Journal: Fertil Steril Date: 2002-02 Impact factor: 7.329
Authors: Demetrios A Arvanitis; Georgios E Koumantakis; Anastasia G Goumenou; Ioannis M Matalliotakis; Eugenios E Koumantakis; Demetrios A Spandidos Journal: Fertil Steril Date: 2003-03 Impact factor: 7.329
Authors: H Baranova; M Canis; T Ivaschenko; E Albuisson; R Bothorishvilli; V Baranov; P Malet; M A Bruhat Journal: Mol Hum Reprod Date: 1999-07 Impact factor: 4.025
Authors: J Kitawaki; H Obayashi; H Ishihara; H Koshiba; I Kusuki; N Kado; K Tsukamoto; G Hasegawa; N Nakamura; H Honjo Journal: Hum Reprod Date: 2001-01 Impact factor: 6.918
Authors: S Nakago; R M Hadfield; K T Zondervan; H Mardon; S Manek; D E Weeks; D Barlow; S Kennedy Journal: Mol Hum Reprod Date: 2001-11 Impact factor: 4.025
Authors: S Defrère; J C Lousse; R González-Ramos; S Colette; J Donnez; A Van Langendonckt Journal: Mol Hum Reprod Date: 2008-05-28 Impact factor: 4.025
Authors: Shelley S Tworoger; Jessica Chubak; Erin J Aiello; Cornelia M Ulrich; Charlotte Atkinson; John D Potter; Yutaka Yasui; Patricia L Stapleton; Johanna W Lampe; Federico M Farin; Frank Z Stanczyk; Anne McTiernan Journal: Cancer Epidemiol Biomarkers Prev Date: 2004-01 Impact factor: 4.254