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Abstract(s)
Os estrogénios são responsáveis pelo crescimento, diferenciação e função de vários tecidos como o tecido mamário, endométrio, osso, vasos sanguíneos, entre outros. Os receptores de estrogénios (ER) são responsáveis pela sua acção biológica, podendo ser de três tipos: ERα, ERβ e GPR30. Os polimorfismos dos receptores de estrogénio, PvuII e XbaI, têm sido associados a diversas patologias ginecológicas como o cancro da mama, cancro do endométrio, adenomiose e leiomioma. Realizámos um estudo numa amostra de mulheres que frequentaram a consulta de ginecologia oncológica do Centro Hospital Cova da Beira com o objectivo de estudar a associação entre os polimorfismos genéticos, PvuII e XbaI, e doenças do foro ginecológico feminino. A amostra foi constituída por 21 mulheres com patologias ginecológicas e 121 mulheres saudáveis. Todas as participantes assinaram um termo de consentimento informado. O ADN foi extraído pelo método do Chelex e os genótipos foram determinados por PCR-RFLP. Concluímos que parece existir uma associação entre o alelo G do polimorfismo XbaI e o alelo C do polimorfismo PvuII do receptor de estrogénio alfa e o aumento de risco de doença do foro ginecológico; Foi possível estabelecer uma relação entre as mulheres portadoras do alelo G do polimorfismo XbaI e o aumento do risco de desenvolver infecção por HPV. Verificou-se que as mulheres portadoras do alelo G do polimorfismo XbaI estão associadas a aumento da susceptibilidade de desenvolver uma patologia inflamatória. No entanto, este trabalho apresenta limitações que obrigam à análise destes dados de uma forma muito cautelosa, mas que pode levar á realização de futuros estudos e desenvolvimentos na área.
Estrogen is responsible for the growth, differentiation and function of several tissues such as mammary, endometrial, bone, blood vessels, among others. Estrogen receptors (ER) are responsible for its biological action and can be divided into three different types: ERα, ERβ and GPR30. The polymorphisms of the estrogen receptors, PvuII and XbaI, have been associated with several gynecological pathologies such as breast or endometrial cancer, adenomyosis and leiomyoma. This study was applied to a sample of women who underwent an oncological gynecology consultation at Centro Hospitalar Cova da Beira in order to study the association between the genetical polymorphisms PvuII and XbaI and female gynecological diseases. The sample was composed by 21 women with gynecological diseases and 121 healthy women. All participants signed a written informed consent. The DNA was extracted by Chelex method and the genotypes were determined by PCR-RFLP. We concluded that it seems to exist an association between G allele of the XbaI polymorphism and the C allele of the PvuII polymorphism of estrogen receptor α and an increased risk of gynecological disease; It was possible to establish a relation between women carrying G allele of the XbaI polymorphism and increased risk of developing HPV infection; It was possible to verify that women carrying G allele of the XbaI polymorphism are associated with the increase of susceptibility to develop an inflammatory disease. However, this work showed limitations that forces a careful analysis of results but can lead to further studies and develops in the area.
Estrogen is responsible for the growth, differentiation and function of several tissues such as mammary, endometrial, bone, blood vessels, among others. Estrogen receptors (ER) are responsible for its biological action and can be divided into three different types: ERα, ERβ and GPR30. The polymorphisms of the estrogen receptors, PvuII and XbaI, have been associated with several gynecological pathologies such as breast or endometrial cancer, adenomyosis and leiomyoma. This study was applied to a sample of women who underwent an oncological gynecology consultation at Centro Hospitalar Cova da Beira in order to study the association between the genetical polymorphisms PvuII and XbaI and female gynecological diseases. The sample was composed by 21 women with gynecological diseases and 121 healthy women. All participants signed a written informed consent. The DNA was extracted by Chelex method and the genotypes were determined by PCR-RFLP. We concluded that it seems to exist an association between G allele of the XbaI polymorphism and the C allele of the PvuII polymorphism of estrogen receptor α and an increased risk of gynecological disease; It was possible to establish a relation between women carrying G allele of the XbaI polymorphism and increased risk of developing HPV infection; It was possible to verify that women carrying G allele of the XbaI polymorphism are associated with the increase of susceptibility to develop an inflammatory disease. However, this work showed limitations that forces a careful analysis of results but can lead to further studies and develops in the area.
Description
Keywords
Estrogénio Receptores de estrogénio Receptores de estrogénio alfa Receptores de estrogénio Xbal Receptores de estrogénio Pvull Receptores de estrogénio - Cancro da mama
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Citation
Publisher
Universidade da Beira Interior