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J Minim Invasive Gynecol. 2020 Feb;27(2):280-286. doi: 10.1016/j.jmig.2019.10.020. Epub 2019 Nov 1.

Should Genetics Now Be Considered the Pre-eminent Etiologic Factor in Endometriosis?

Author information

1
Institute for Molecular Bioscience, The University of Queensland, Brisbane, Australia (Drs. Montgomery and Mortlock). Electronic address: g.montgomery1@uq.edu.au.
2
Institute for Molecular Bioscience, The University of Queensland, Brisbane, Australia (Drs. Montgomery and Mortlock).
3
Department of Obstetrics, Gynecology and Reproductive Sciences, University of California, San Francisco, San Francisco, California (Dr. Giudice).

Abstract

Endometriosis is a common, estrogen-dependent, inflammatory disorder characterized by the growth of endometrial-like tissue at extrauterine locations. Its pathogenesis and mechanisms underlying its pathophysiology are poorly understood, although genetic variation is strongly implicated in these processes. Genetic studies reveal that approximately 50% of risk for endometriosis is due to genetic factors and the other 50% likely owing to environmental factors. As with other complex diseases, genetic variants in the DNA sequence increasing endometriosis risk all have small effects, unlike most single-gene disorders. It is the combinations of these variants adding together that contribute to higher risks for individual women. In addition, recent data on disease lesions demonstrate a high frequency of somatic (likely acquired) mutations, some of which are present in the eutopic endometrium and specifically in the epithelial cell compartment, raising the possibility that abnormal epithelial progenitors in the eutopic endometrium give rise to ectopic disease. Discovery in this field is occurring at a rapid pace, and further definitions of genetic (germline) and environmental (somatic) contributions to the pathogenesis and pathophysiology of this disorder are anticipated soon. These discoveries are expected to increase diagnostic, therapeutic, and preventive strategies to minimize disease and its associated morbidities.

KEYWORDS:

Disease model; Genetic risk factors; Somatic mutations

PMID:
31683028
DOI:
10.1016/j.jmig.2019.10.020

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