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Study of polymorphisms in genes responsible for biosynthesis, action and metabolization of sexual steroids in estrogen-dependent and menopausal gynecological conditions

Abstract

The present project aims to correlate the presence of a broad panel of polymorphisms in genes responsible for the biosynthesis, action and metabolization of sexual steroids, with the presence of benign gynecological conditions (endometriosis, uterine myomatosis and menopause) and malignant conditions (carcinoma of the ovary, of the endometrium). For each of the gynecological diseases mentioned there will be included, in each thematic subproject, at least 200 women carriers of each one of these gynecological conditions. A total of 24 polymorphisms will be studied for each of the patients. The target genes of the present study will be: CYP1A, CYP1B1, CYP3A4, CYP17, CYP19, COLIA1, COMT, GSTM1, osteocalcin, hepatic lipase, vitamin D receptor, androgen receptor, estrogen and progesterone receptor. The methodology to be applied is the PCR-RFLP in addition to automated sequencing of DNA. The eventual discovery of molecular markers could contribute significantly in the determination of patients at risk from major diseases. (AU)

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Scientific publications (10)
(References retrieved automatically from Web of Science and SciELO through information on FAPESP grants and their corresponding numbers as mentioned in the publications by the authors)
BALDISSEROTTO, F. D. G.; ELIAS, S.; SILVA, I. D. C. G.; NAZARIO, A. C. P. The relationship between estrogen receptor gene polymorphism and mammographic density in postmenopausal women. CLIMACTERIC, v. 16, n. 3, p. 369-380, JUN 2013. Web of Science Citations: 1.
NOGUEIRA-DE-SOUZA, N. C.; DA SILVA, I. D. C. GUERREIRO; DE CARVALHO, C. V.; PULCHINELLI, A.; HAIDAR, M. A.; BARACAT, E. C.; MASSAD-COSTA, A. M. Effect of estrogen receptor-alpha (ESR1) gene polymorphism on high-density lipoprotein levels in response to hormone replacement therapy. Brazilian Journal of Medical and Biological Research, v. 42, n. 12, p. 1138-1142, DEC 2009. Web of Science Citations: 4.
DE OLIVEIRA, EMERSON; CASTRO, RODRIGO DE AQUINO; VIEIRA GOMES, MARIANO TAMURA; COTRIM GUERREIRO DA SILVA, ISMAEL DALE; BARACAT, EDMUND CHADA; DE LIMA, GERALDO RODRIGUES; FERREIRA SARTORI, MARAIR GRACIO; BATISTA CASTELLO GIRAO, MANOEL JOAO. Role of glutathione S-transferase (GSTM1) gene polymorphism in development of uterine fibroids. Fertility and Sterility, v. 91, n. 4, p. 1496-1498, APR 2009. Web of Science Citations: 4.
N.C. NOGUEIRA-DE-SOUZA; I.D.C. GUERREIRO DA SILVA; C.V. DE CARVALHO; A. PULCHINELLI; M.A. HAIDAR; E.C. BARACAT; A.M. MASSAD-COSTA. Effect of estrogen receptor-alpha (ESR1) gene polymorphism on high density lipoprotein levels in response to hormone replacement therapy. Brazilian Journal of Medical and Biological Research, v. 42, n. 12, p. -, Dez. 2009.
DE MOURA RAMOS, E. H.; MARTINELLI, S.; SILVA, I.; NAZARIO, A.; FACINA, G.; COSTA, A.; CARVALHO, C.; SOUZA, N. Association between estrogen receptor gene polymorphisms and breast density in postmenopausal women. CLIMACTERIC, v. 12, n. 6, p. 490-501, 2009. Web of Science Citations: 7.
DE OLIVEIRA, EMERSON; CASTRO, RODRIGO DE AQUINO; VIEIRA GOMES, MARIANO TAMURA; COTRIM GUERREIRO DA SILVA, ISMAEL DALE; BARACAT, EDMUND CHADA; DE LIMA, GERALDO RODRIGUES; FERREIRA SARTORI, MARAIR GRACIO; BATISTA CASTELLO GIRAO, MANOEL JOAO. The catechol-O-methyltransferase (COMT) gene polymorphism and prevalence of uterine fibroids. MATURITAS, v. 60, n. 3-4, p. 235-238, JUL-AUG 2008. Web of Science Citations: 12.
MASSAD-COSTA‚ AM; NOGUEIRA-DE-SOUZA‚ NC; DE CARVALHO‚ CV; DA SILVA‚ ID; GUINDALINI‚ C.; NOGUEIRA JR‚ RC; SOARES JR‚ JM; HAIDAR‚ MA; BARACAT‚ EC. CYP17 polymorphism and hot flushes in postmenopausal women. CLIMACTERIC, v. 11, n. 5, p. 404-408, 2008.
GOMES, MARIANO TAMURA VIEIRA; CASTRO, RODRIGO DE AQUINO; VILLANOVA, FABIOLA ELIZABETH; SILVA, ISMAEL DALE COTRIM GUERREIRO DA; BARACAT, EDMUND CHADA; LIMA, GERALDO RODRIGUES DE; GIRÃO, MANOEL JOÃO BATISTA CASTELLO. The progesterone receptor gene polymorphism, PROGINS, may be a factor related to the development of uterine fibroids. Fertility and Sterility, v. 87, n. 5, p. 1116-1121, May 2007.
MARIANO TAMURA VIEIRA GOMES; RODRIGO DE AQUINO CASTRO; FABIOLA ELIZABETH VILLANOVA; ISMAEL DALE COTRIM GUERREIRO DA SILVA; EDMUND CHADA BARACAT; GERALDO RODRIGUES DE LIMA; MANOEL JOÃO BATISTA CASTELLO GIRÃO. Relação entre polimorfismo do gene do receptor de progesterona, raça, paridade e ocorrência de leiomioma uterino. Revista Brasileira de Ginecologia e Obstetrícia, v. 28, n. 5, p. 278-284, Maio 2006.
JOSÉ JUVENAL LINHARES; ISMAEL DALE COTRIM GUERREIRO DA SILVA; NAIARA C. NOGUEIRA DE SOUZA; EMMANUELLE COELHO NORONHA; ODAIR FERRARO; CRISTINA VALLETA DE CARVALHO; EDMUND CHADA BARACAT; FAUSTO FARAH BARACAT. Genetic polymorphism of GSTM1 in women with breast cancer and interact with reproductive history and several clinical pathologies. Biological Research, v. 38, n. 2-3, p. 273-281, 2005.

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