%0 Journal Article
%T Endometriosis Gene Expression Heterogeneity and Biosignature: A Phylogenetic Analysis
%A Mones Abu-Asab
%A Ming Zhang
%A Dennis Amini
%A Nihad Abu-Asab
%A Hakima Amri
%J Obstetrics and Gynecology International
%D 2011
%I Hindawi Publishing Corporation
%R 10.1155/2011/719059
%X Endometriosis is a multifactorial disease with poorly understood etiology, and reflecting an evolutionary nature where genetic alterations accumulate throughout pathogenesis. Our objective was to characterize the heterogeneous pathological process using parsimony phylogenetics. Gene expression microarray data of ovarian endometriosis obtained from NCBI database were polarized and coded into derived (abnormal) and ancestral (normal) states. Such alterations are referred to as synapomorphies in a phylogenetic sense (or biomarkers). Subsequent gene linkage was modeled by Genomatix BiblioSphere Pathway software. A list of clonally shared derived (abnormal) expressions revealed the pattern of heterogeneity among specimens. In addition, it has identified disruptions within the major regulatory pathways including those involved in cell proliferation, steroidogenesis, angiogenesis, cytoskeletal organization and integrity, and tumorigenesis, as well as cell adhesion and migration. Furthermore, the analysis supported the potential central involvement of ESR2 in the initiation of endometriosis. The pathogenesis mapping showed that eutopic and ectopic lesions have different molecular biosignatures. 1. Introduction In the USA, 10¨C20% of women suffer from endometriosis, with 40% developing infertility. It is a public health issue with a patient¡¯s medical costs approximately 63% higher than those of the average woman [1]. The etiology and pathophysiology of endometriosis remains poorly understood. The hypothesis of retrograde menstruation is the oldest and most widely accepted. However, it fails to explain why some women develop endometriosis while others do not, given that some degree of retrograde menstrual flow is experienced by all women [2]. Thus, other factors such as immunology [3, 4], genetics [5], and the environment [6] may play a role in the mechanism of disease development. The genetic theory dates back to the first formal genetic study published in 1980 by Simpson et al. [5]. Numerous findings since then support a polygenic multifactorial inheritance of endometriosis caused by an interaction between multiple genes with the environment. Several studies from the OXGENE (Oxford Endometriosis GENE) group confirmed an inheritance component to endometriosis. Specifically, in one report of 100 families with endometriosis from 6 different countries, 19 mother-daughter pairs and 56 sibling pairs shared the disease [7]. A diagnostic method that screened for genetic profiles or candidate genes may benefit the patient by detecting disease earlier, improving patient
%U http://www.hindawi.com/journals/ogi/2011/719059/