Genetic risk factors for endometriosis


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.

J Endometr Pelvic Pain Disord 2017; 9(2): 69 - 76

Article Type: REVIEW



Jenny N. Fung, Yadav Sapkota, Dale R. Nyholt, Grant W. Montgomery

Article History


Financial support: Research discussed was supported by the National Health and Medical Research Council (NHMRC) project grants GNT1026033, GNT1049472, and GNT1046880, G.W.M. is supported by the NHMRC Fellowship scheme (GNT1078399).
Conflict of interest: None of the authors has financial interest related to this study to disclose.

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  • Institute for Molecular Bioscience, The University of Queensland, Brisbane - Australia
  • Department of Epidemiology and Cancer Control, St. Jude Children’s Research Hospital, Memphis, TN - USA
  • Institute of Health and Biomedical Innovation, Queensland University of Technology, Queensland - Australia

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