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Genetics and Genomics of Endometriosis


Clinical Obstetrics and Gynecology: June 2010 - Volume 53 - Issue 2 - p 403-412
doi: 10.1097/GRF.0b013e3181db7ca1

Endometriosis is a common cause of morbidity in women with an unknown etiology. Studies have demonstrated the familial nature of endometriosis and suggest that inheritance occurs in a polygenic/multifactorial fashion. Studies have attempted to define the gene or genes responsible for endometriosis through association or linkage studies with candidate genes or DNA mapping technology. A number of genomics studies have demonstrated significant alterations in gene expression in endometriosis. A more thorough understanding of the genetics and genomics of endometriosis will facilitate understanding the basic biology of the disease and open new inroads to diagnosis and treatment of this enigmatic condition.

*Department of Obstetrics and Gynecology

Division of Basic Biomedical Sciences, Sanford School of Medicine of the University of South Dakota, Vermillion and Sioux Falls, South Dakota

Correspondence: Keith A. Hansen, MD, Department of Obstetrics and Gynecology, Sanford School of Medicine of The University of South Dakota, Health Science Center, 1400 West 22nd Street, Sioux Falls, SD 57107. E-mail:

© 2010 Lippincott Williams & Wilkins, Inc.