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


Autoria(s): Ramos Cirilo, Priscila Daniele; Rosa, Fabiola Encinas; Moreira Ferraz, Maria Fernanda; Rainho, Claudia Aparecida; Pontes, Anaglória; Rogatto, Silvia Regina
Contribuinte(s)

Universidade Estadual Paulista (UNESP)

Data(s)

20/05/2014

20/05/2014

01/03/2012

Resumo

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

Polycystic 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.

Formato

190-194

Identificador

http://dx.doi.org/10.3109/09513590.2011.593661

Gynecological Endocrinology. New York: Informa Healthcare, v. 28, n. 3, p. 190-194, 2012.

0951-3590

http://hdl.handle.net/11449/12178

10.3109/09513590.2011.593661

WOS:000300436700008

Idioma(s)

eng

Publicador

Informa Healthcare

Relação

Gynecological Endocrinology

Direitos

closedAccess

Palavras-Chave #Polycystic ovary syndrome #androgen metabolism #androgen receptor #estrogen receptor #insulin resistance #infertility
Tipo

info:eu-repo/semantics/article