Genetic polymorphisms associated with steroids metabolism and insulin action in polycystic ovary syndrome

dc.contributorUniversidade Estadual Paulista (UNESP)
dc.creatorRamos Cirilo, Priscila Daniele
dc.creatorRosa, Fabiola Encinas
dc.creatorMoreira Ferraz, Maria Fernanda
dc.creatorRainho, Claudia Aparecida
dc.creatorPontes, Anaglória
dc.creatorRogatto, Silvia Regina
dc.date2014-05-20T13:35:24Z
dc.date2016-10-25T16:52:49Z
dc.date2014-05-20T13:35:24Z
dc.date2016-10-25T16:52:49Z
dc.date2012-03-01
dc.date.accessioned2017-04-05T20:28:36Z
dc.date.available2017-04-05T20:28:36Z
dc.identifierGynecological Endocrinology. New York: Informa Healthcare, v. 28, n. 3, p. 190-194, 2012.
dc.identifier0951-3590
dc.identifierhttp://hdl.handle.net/11449/12178
dc.identifierhttp://acervodigital.unesp.br/handle/11449/12178
dc.identifier10.3109/09513590.2011.593661
dc.identifierWOS:000300436700008
dc.identifierhttp://dx.doi.org/10.3109/09513590.2011.593661
dc.identifier.urihttp://repositorioslatinoamericanos.uchile.cl/handle/2250/859828
dc.descriptionPolycystic ovary syndrome (PCOS) is an endocrinopathy associated with infertility, diabetes and cardiovascular events. This study aimed to correlate polymorphisms of genes involved in the biosynthesis and metabolism of steroids and insulin action (CYP17A1, CYP19A1, AR, ESR1, ESR2, INSR, IGF2 and PAI1) with clinical and biochemical parameters of PCOS. DNA was extracted from peripheral blood samples obtained from 117 PCOS and 105 healthy women. The PAI1 insertion/deletion (-675 ins/delG) polymorphism (rs1799768) was genotyped by PCR-SSCP. CYP19A1 [TTTA](n), AR [CAG](n), ESR1 [TA](n), and ESR2 [CA](n) genes were evaluated by PCR-based GeneScan analysis, while CYP17A1 5'UTR (rs743572), INSR 1058 CT (rs1799817), and IGF2 3'UTR GA (rs680) polymorphisms were evaluated by PCR-RFLP. The results showed a prevalence of PAI1 4G5G+4G4G genotypes in PCOS (p=0.025). Younger PCOS women showed a predominance of CT+TT, GA+AA and 4G5G+4G4G genotypes of INSR, IGF2, and PAI1 (p=0.0499, p=0.0300, p=0.0350, respectively). AR shorter alleles (<= 20 repeats) were significantly associated with higher serum levels of total testosterone (TT, p=0.0086). In conclusion, PAI1 polymorphism seems to be associated with the risk of PCOS development. Younger PCOS women had specific genotypes of INSR, IGF2 and PAI1 genes. AR shorter alleles can be associated with higher serum levels of TT in PCOS patients.
dc.descriptionFundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
dc.descriptionCoordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)
dc.descriptionConselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)
dc.languageeng
dc.publisherInforma Healthcare
dc.relationGynecological Endocrinology
dc.rightsinfo:eu-repo/semantics/closedAccess
dc.subjectPolycystic ovary syndrome
dc.subjectandrogen metabolism
dc.subjectandrogen receptor
dc.subjectestrogen receptor
dc.subjectinsulin resistance
dc.subjectinfertility
dc.titleGenetic polymorphisms associated with steroids metabolism and insulin action in polycystic ovary syndrome
dc.typeOtro


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