Genetic risk factors for endometriosis

Fung, Jenny N., Sapkota, Yadav, Nyholt, Dale R. and Montgomery, Grant W. (2017) Genetic risk factors for endometriosis. Journal of Endometriosis and Pelvic Pain Disorders, 9 2: 69-76. doi:10.5301/je.5000273

Author Fung, Jenny N.
Sapkota, Yadav
Nyholt, Dale R.
Montgomery, Grant W.
Title Genetic risk factors for endometriosis
Journal name Journal of Endometriosis and Pelvic Pain Disorders
ISSN 2284-0265
Publication date 2017-06-06
Year available 2017
Sub-type Critical review of research, literature review, critical commentary
DOI 10.5301/je.5000273
Open Access Status Not yet assessed
Volume 9
Issue 2
Start page 69
End page 76
Total pages 8
Place of publication London, United Kingdom
Publisher Sage Publications
Language eng
Subject 2729 Obstetrics and Gynaecology
Abstract Advances in genetics and genomics are driving progress in understanding genetic risk factors for endometriosis. Genome-wide association scans (GWAS) in endometriosis have identified 11 genomic regions associated with increased risk of disease. Many of the regions contain interesting candidate genes, but the risk alleles may not always act through the obvious candidates. Functional evidence to identify the causal gene(s) will require multiple steps including better mapping precision, genetic studies on gene expression and epigenetic marks, chromatin looping and functional studies. Evidence from gene expression studies in endometrium and chromatin looping experiments implicate CDC42 on chromosome 1, CDKN2B-AS1 on chromosome 9 and VEZT on chromosome 12 as likely causal genes in these regions. Confirming the causal gene(s) in these and other regions will identify the important pathways increasing risk for endometriosis and identify novel targets for interventions to improve diagnosis and treatment.
Keyword Genome-Wide Association
Susceptibility Loci
Q-Index Code C1
Q-Index Status Provisional Code
Grant ID GNT1026033
Institutional Status UQ

Document type: Journal Article
Sub-type: Critical review of research, literature review, critical commentary
Collections: HERDC Pre-Audit
Queensland Brain Institute Publications
Institute for Molecular Bioscience - Publications
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Created: Sat, 16 Dec 2017, 23:23:16 EST