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Association between polymorphisms of the CYP11A1 gene
and polycystic ovary syndrome in Chinese women
Cheng-wei Zhang; Xin-lin Zhang; Yan-jie Xia; Yun-xia Cao; Wen-jun Wang; Pei Xu; Ye-na Che; Xiao-ke Wu
JANINE BAPTISTA COIMBRA
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Prevalência 6-10%;
7,4 % das chinesas em idade fértil.
Síndrome do ovário policístico
Endocrinopatia mais comum nas mulheres em idade fértil.
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Síndrome do ovário policístico
Hirsutismo
Hiperandrogenismo
ObesidadeAmenorréi
a
Oligo-anovulação
Hiperinsulinemia
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Hiperandrogenismo
CYP11A1; CYP17; CYP19; AR etc...
Quais os genes que podem afetar a síntese, ação e regulação de
andrógenos?
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Codifica a enzima de clivagem (P450scc) que catalisa o primeiro passo da biossíntese de andrógeno e estrogênio e converte o colesterol em pregnenolona,um precursor andrógeno.
Hiperandrogenismo e gene CYP11A1
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Gene CYP11A1
Localização: 15q24;
9 exons, 8 introns.
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SNP’s:
rs4077582: C> T
rs11632698: A>G
Gene CYP11A1
Os SNP’s estão relacionados com a PCOS em mulheres
chinesas???
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Estudos de associaçãoEstudo caso x controle
Casos X Controles Mulheres com PCOS (314+ 290=604) Mulheres normais (314+344=658)
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Diagnóstico de PCOS
- Sinais clínicos e/ou bioquímicos de hiperandrogenismo;
- Oligomenorréia;- Ovário policístico: ultrasson
Avaliação hormonal
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Genotipagem• PCR;
• Digestão com as enzima de restrição
Mly I (N= A ou C/ G ou T)
Ban II (R= A ou G e Y= C ou T)
• Eletroforese Identificação dos genótipos.
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rs11632698: A>G rs4077582: C> T
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Apenas o SNP rs4077582 está associado a PCOS
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Genótipos e parâmetros hormonais
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Na população controle CT: LH, LH/FSH e testosterona mais elevados;
LH: estimula produção de andrógenos.
Mulheres normais com genótipo de CT: mais propensas a desenvolver PCOS;
Mulheres com PCOS: maior parcela de com o genótipo CT, em comparação com os controles.
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Polimorfismo de microssatélites (TTTTA) n x PCOS e nível de testosterona.
Mulheres espanholas, nenhuma associação com hirsutismo ou hiperandrogenismo.
Chinesas: nenhuma conclusão coerente.
Outros polimorfismos...
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• rs4077582 fortemente associado com a susceptibilidade à PCOS;
• Mais pesquisas sobre a predisposição a PCOS e a função do gene CYP11A1 são necessárias.
Conclusão