Journal article

Genetic regulation of disease risk and endometrial gene expression highlights potential target genes for endometriosis and polycystic ovarian syndrome

Jenny N Fung, Sally Mortlock, Jane E Girling, Sarah J Holdsworth-Carson, Wan Tinn Teh, Zhihong Zhu, Samuel W Lukowski, Brett D McKinnon, Allan McRae, Jian Yang, Martin Healey, Joseph E Powell, Peter AW Rogers, Grant W Montgomery



Gene expression varies markedly across the menstrual cycle and expression levels for many genes are under genetic control. We analyzed gene expression and mapped expression quantitative trait loci (eQTLs) in endometrial tissue samples from 229 women and then analyzed the overlap of endometrial eQTL signals with genomic regions associated with endometriosis and other reproductive traits. We observed a total of 45,923 cis-eQTLs for 417 unique genes and 2,968 trans-eQTLs affecting 82 unique genes. Two eQTLs were located in known risk regions for endometriosis including LINC00339 on chromosome 1 and VEZT on chromosome 12 and there was evidence for eQTLs that may be target genes in genomic region..

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Awarded by National Health and Medical Research Council (NHMRC)

Awarded by NHMRC

Funding Acknowledgements

We thank the women who participated in the study, research nurses Ranita Charitra, Tracy Middleton and Irene Bell who recruited and consented all the endometrial biopsy patients at the Royal Women's Hospital, and the surgeons and anaesthetists who collected tissue and blood samples. Research reported in this publication was supported by National Health and Medical Research Council (NHMRC) project grants GNT1026033, GNT1049472, GNT1046880, GNT1050208, GNT1105321, GNT1083405 and GNT1107258. A.M., G.W.M. and J.E.P are supported by NHMRC Fellowships (GNT1083656, GNT1078399, GNT1107599). J.Y. is supported by the Sylvia and Charles Viertel Charitable Foundation.