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 | Published : 2021


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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