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Endometriosis is a relatively common condition in women of reproductive age and is associated with considerable morbidity. Despite an extensive literature describing its multiple clinical manifestations, their management, and many aspects of the biology of endometriotic lesions, the pathophysiological mechanisms involved remain poorly understood. A genetic component in endometriosis is now recognized, and several groups have taken up the challenge of using genetic techniques to identify the aberrant molecular and cellular mechanisms in endometriosis with the intention of providing much-needed insights that might, in turn, lead to new therapies. The techniques that have been applied include expression profiling, tumor genetic studies, functional candidate gene studies, and linkage studies that can adopt a hypothesis-free approach. This review describes the current status of these studies and explores the prospects for new therapies.

Original publication




Journal article


Annu Rev Med

Publication Date





345 - 356


Aromatase Inhibitors, Drug Therapy, Combination, Endometriosis, Endometrium, Female, Gene Frequency, Genetic Predisposition to Disease, Genetic Techniques, Gonadotropin-Releasing Hormone, Humans, Long-Term Care, Nitriles, Oligonucleotide Array Sequence Analysis, Triazoles