Functional evaluation of genetic variants associated with endometriosis near GREB1

Human Reproduction
Jenny N FungGrant W Montgomery

Abstract

Do DNA variants in the growth regulation by estrogen in breast cancer 1 (GREB1) region regulate endometrial GREB1 expression and increase the risk of developing endometriosis in women? We identified new single nucleotide polymorphisms (SNPs) with strong association with endometriosis at the GREB1 locus although we did not detect altered GREB1 expression in endometriosis patients with defined genotypes. Genome-wide association studies have identified the GREB1 region on chromosome 2p25.1 for increasing endometriosis risk. The differential expression of GREB1 has also been reported by others in association with endometriosis disease phenotype. Fine mapping studies comprehensively evaluated SNPs within the GREB1 region in a large-scale data set (>2500 cases and >4000 controls). Publicly available bioinformatics tools were employed to functionally annotate SNPs showing the strongest association signal with endometriosis risk. Endometrial GREB1 mRNA and protein expression was studied with respect to phases of the menstrual cycle (n = 2-45 per cycle stage) and expression quantitative trait loci (eQTL) analysis for significant SNPs were undertaken for GREB1 [mRNA (n = 94) and protein (n = 44) in endometrium]. Participants in this stud...Continue Reading

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Citations

Feb 2, 2016·Systems Biology in Reproductive Medicine·Vladislav S BaranovMaria I Yarmolinskaya
Mar 24, 2016·Human Reproduction·Sarah J Holdsworth-CarsonPeter A W Rogers
Sep 5, 2015·Twin Research and Human Genetics : the Official Journal of the International Society for Twin Studies·Yadav SapkotaThomas M D'Hooghe
Feb 9, 2017·Human Reproduction·Jenny N FungGrant W Montgomery
Feb 17, 2019·Molecular Human Reproduction·S J Holdsworth-CarsonP A W Rogers
May 23, 2019·Molecular Medicine Reports·Charoula MatalliotakiMaria I Zervou
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Jun 19, 2020·Healthcare·Antonio Sanchez-FernandezMaría Pedrera-Canal
Nov 7, 2020·International Journal of Molecular Sciences·Beata SmolarzHanna Romanowicz
May 27, 2021·Clinical Epigenetics·Alejandra Monserrat Retis-ResendizEdgar Ricardo Vázquez-Martínez
Jul 25, 2021·International Journal of Molecular Sciences·Imane LalamiDaniel Vaiman
Nov 5, 2017·Fertility and Sterility·Stephan GordtsIvo Brosens

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