Book Chapter

Genetics and Genomics of Endometriosis

Linda C Giudice, Richard O Burney, Christian Becker, Stacey Missmer, Grant Montgomery, Nilufer Rahmioglu, Peter AW Rogers, Krina Zondervan

HUMAN REPRODUCTIVE AND PRENATAL GENETICS | ACADEMIC PRESS LTD-ELSEVIER SCIENCE LTD | Published : 2019

Abstract

Endometriosis is an estrogen-dependent, progesterone-resistant, inflammatory disease with symptoms that include pelvic pain, infertility, and compromised quality of life in millions of women worldwide. Approximately 50% of the risk of developing endometriosis is due to genetic factors with the remaining 50% due to environmental (i.e., exposome) causes. Treatments are hormonal, surgical, or both, with limited efficacy in the long term. Diagnosis of pelvic endometriosis is through visual identification and confirmatory histopathology of lesions. Recent innovations in genomics, genetics and epigenetics, molecular and cell biology, imaging, and a worldwide effort to standardize patient phenotypi..

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