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A Journal on Obstetrics and Gynecology

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Minerva Ginecologica 2005 June;57(3):225-36

language: English, Italian

Genetics of endometriosis

Di Blasio A. M., Di Francesco S., Abbiati A., Viganò P.


Endometriosis is a multifactorial disease that can affect up to 10-15% of women in their reproductive age. Epidemiological studies indicate that it is a polygenic disorder with recurrence risks in first-degree relatives of about 5-7%. Thus, the present aim of different research groups is to identify genetic variations in obvious candidate gene that could be associated with an increased susceptibility to endometrio-sis. The great advancement in molecular biology techniques make this task certainly possible, although particular attention needs to be paid to the study design in order to achieve reliable results. The data obtained by such studies will allow to expand our knowledge on the pathogenesis of the disease and, more importantly, to develop individualized therapies and prevention strategies to apply at high-risk populations.

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