Journal article

Genetic risk factors for endometriosis near estrogen receptor 1 and coexpression of genes in this region in endometrium

S Marla, S Mortlock, S Houshdaran, J Fung, B McKinnon, SJ Holdsworth-Carson, JE Girling, PAW Rogers, LC Giudice, GW Montgomery

MOLECULAR HUMAN REPRODUCTION | OXFORD UNIV PRESS | Published : 2021

Abstract

The etiology and pathogenesis of endometriosis are complex with both genetic and environmental factors contributing to disease risk. Genome-wide association studies (GWAS) have identified multiple signals in the estrogen receptor 1 (ESR1) region associated with endometriosis and other reproductive traits and diseases. In addition, candidate gene association studies identified signals in the ESR1 region associated with endometriosis risk suggesting genetic regulation of genes in this region may be important for reproductive health. This study aimed to investigate hormonal and genetic regulation of genes in the ESR1 region in human endometrium. Changes in serum oestradiol and progesterone conc..

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Grants

Awarded by National Health and Medical Research Council (NHMRC)


Awarded by NHMRC Fellowships


Awarded by National Institutes of Health, Eunice Kennedy Shriver National Institute for Child Health and Human Development


Funding Acknowledgements

Research reported in this publication was supported by the National Health and Medical Research Council (NHMRC) project grants GNT1026033, GNT1049472, GNT1050208, GNT1105321 and GNT1147846. G.W.M. is supported by the NHMRC Fellowships (GNT1078399 and GNT1177194); L.C.G. and S.H. are supported by the National Institutes of Health, Eunice Kennedy Shriver National Institute for Child Health and Human Development R01 HD089511.