دورية أكاديمية
Genetic risk factors for endometriosis near estrogen receptor 1 and coexpression of genes in this region in endometrium.
| العنوان: | Genetic risk factors for endometriosis near estrogen receptor 1 and coexpression of genes in this region in endometrium. |
|---|---|
| المؤلفون: | Marla S; Institute for Molecular Bioscience, The University of Queensland, St Lucia, Brisbane, QLD 4072, Australia., Mortlock S; Institute for Molecular Bioscience, The University of Queensland, St Lucia, Brisbane, QLD 4072, Australia., Houshdaran S; Department of Obstetrics, Gynecology and Reproductive Sciences, Center for Reproductive Sciences, University of California, San Francisco, CA 94143, USA., Fung J; Institute for Molecular Bioscience, The University of Queensland, St Lucia, Brisbane, QLD 4072, Australia.; School of Biomedical Sciences, The University of Queensland, St Lucia, Brisbane, QLD 4072, Australia., McKinnon B; Institute for Molecular Bioscience, The University of Queensland, St Lucia, Brisbane, QLD 4072, Australia.; Department of Gynaecology, Inselspital, Bern, Switzerland., Holdsworth-Carson SJ; Department of Obstetrics and Gynaecology, Gynaecology Research Centre, Royal Women's Hospital, University of Melbourne, Parkville, VIC 3052, Australia., Girling JE; Department of Obstetrics and Gynaecology, Gynaecology Research Centre, Royal Women's Hospital, University of Melbourne, Parkville, VIC 3052, Australia.; Department of Anatomy, University of Otago, Dunedin 9016, New Zealand., Rogers PAW; Department of Obstetrics and Gynaecology, Gynaecology Research Centre, Royal Women's Hospital, University of Melbourne, Parkville, VIC 3052, Australia., Giudice LC; Department of Obstetrics, Gynecology and Reproductive Sciences, Center for Reproductive Sciences, University of California, San Francisco, CA 94143, USA., Montgomery GW; Institute for Molecular Bioscience, The University of Queensland, St Lucia, Brisbane, QLD 4072, Australia. |
| المصدر: | Molecular human reproduction [Mol Hum Reprod] 2021 Jan 22; Vol. 27 (1). |
| نوع المنشور: | Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't |
| اللغة: | English |
| بيانات الدورية: | Publisher: Oxford University Press for the European Society for Human Reproduction and Embryology Country of Publication: England NLM ID: 9513710 Publication Model: Print Cited Medium: Internet ISSN: 1460-2407 (Electronic) Linking ISSN: 13609947 NLM ISO Abbreviation: Mol Hum Reprod Subsets: MEDLINE |
| أسماء مطبوعة: | Publication: Oxford : Oxford University Press for the European Society for Human Reproduction and Embryology Original Publication: Oxford, UK : Published for the European Society for Human Reproduction and Embryology by Oxford University Press, [1995- |
| مواضيع طبية MeSH: | Gene Expression Regulation* , Genetic Predisposition to Disease*, Endometriosis/*genetics , Endometrium/*metabolism , Estrogen Receptor alpha/*genetics, Endometriosis/blood ; Estradiol/blood ; Female ; Genetic Variation ; Humans ; Menstrual Cycle/metabolism ; Progesterone/blood ; Receptors, Cytoplasmic and Nuclear/metabolism ; Risk Factors |
| مستخلص: | 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 concentrations and expression of hormone receptors ESR1 and progesterone receptor (PGR) were assessed in endometrial samples from 135 women collected at various stages of the menstrual cycle. Correlation between hormone concentrations, receptor expression and expression of genes in the ESR1 locus was investigated. The effect of endometriosis risk variants on expression of genes in the region was analyzed to identify gene targets. Hormone concentrations and receptor expression varied significantly across the menstrual cycle. Expression of genes in the ESR1 region correlated with progesterone concentration; however, they were more strongly correlated with expression of ESR1 and PGR suggesting coregulation of genes. There was no evidence that endometriosis risk variants directly regulated expression of genes in the region. Limited sample size and cellular heterogeneity in endometrial tissue may impact the ability to detect significant genetic effects on gene expression. Effects of these variants should be validated in a larger dataset and in relevant individual cell types. (© The Author(s) 2021. Published by Oxford University Press on behalf of European Society of Human Reproduction and Embryology. All rights reserved. For permissions, please email: journals.permissions@oup.com.) |
| References: | Fertil Steril. 2009 Jul;92(1):54-60. (PMID: 18687423) Reprod Biomed Online. 2013 Nov;27(5):497-505. (PMID: 23933037) Trends Endocrinol Metab. 2018 Aug;29(8):535-548. (PMID: 29934050) Nat Genet. 2016 Apr;48(4):374-86. (PMID: 26928228) PLoS Genet. 2011 Apr;7(4):e1001382. (PMID: 21552322) Mol Hum Reprod. 2007 Feb;13(2):117-22. (PMID: 17121748) J Clin Pathol. 2001 Aug;54(8):624-30. (PMID: 11477119) Nat Genet. 2014 May;46(5):430-7. (PMID: 24728292) PLoS One. 2012;7(4):e35430. (PMID: 22563384) J Mol Endocrinol. 2000 Aug;25(1):35-42. (PMID: 10915216) Reprod Biol Endocrinol. 2006;4 Suppl 1:S9. (PMID: 17118173) J Med Assoc Thai. 2014 Feb;97(2):147-52. (PMID: 24765891) Hum Reprod. 2017 Apr 1;32(4):893-904. (PMID: 28177073) J Reprod Fertil. 1992 Mar;94(2):363-71. (PMID: 1593539) Nat Genet. 2016 May;48(5):481-7. (PMID: 27019110) Am J Obstet Gynecol. 1975 May;122(2):262-3. (PMID: 1155504) Endocrinology. 1993 Jan;132(1):382-92. (PMID: 8419136) Nature. 2014 Oct 02;514(7520):92-97. (PMID: 25231870) Lancet. 2004 Nov 13-19;364(9447):1789-99. (PMID: 15541453) Mol Cell Endocrinol. 1987 Aug;52(3):235-42. (PMID: 3653505) Dis Markers. 2009;26(4):149-54. (PMID: 19729795) Hum Reprod. 2020 Feb 29;35(2):377-393. (PMID: 32103259) Endocrinology. 2006 Mar;147(3):1097-121. (PMID: 16306079) Mol Hum Reprod. 2004 Dec;10(12):879-93. (PMID: 15501903) Reprod Biomed Online. 2013 Jan;26(1):93-8. (PMID: 23177411) Endocrinology. 1999 Oct;140(10):4809-20. (PMID: 10499541) Mol Biol Evol. 2004 Mar;21(3):463-7. (PMID: 14660682) Hum Reprod. 2001 Jan;16(1):51-55. (PMID: 11139535) Cancer Res. 2011 Feb 15;71(4):1344-55. (PMID: 21303983) Trends Genet. 2002 Dec;18(12):604-6. (PMID: 12446137) J Clin Endocrinol Metab. 2000 Aug;85(8):2897-902. (PMID: 10946900) Sci Rep. 2018 Oct 1;8(1):14568. (PMID: 30275458) Lab Invest. 1988 Mar;58(3):338-45. (PMID: 3347010) Nat Genet. 2016 Dec;48(12):1462-1472. (PMID: 27798627) Fertil Steril. 1999 Jul;72(1):164-6. (PMID: 10428168) Lab Invest. 1984 Apr;50(4):480-6. (PMID: 6368973) Fertil Steril. 2001 Jun;75(6):1198-205. (PMID: 11384649) Reprod Sci. 2009 Feb;16(2):191-9. (PMID: 19208787) Sci Rep. 2018 Jul 30;8(1):11424. (PMID: 30061686) Nat Commun. 2017 May 24;8:15539. (PMID: 28537267) Nat Genet. 2009 Mar;41(3):324-8. (PMID: 19219042) Mol Hum Reprod. 1999 Jun;5(6):559-64. (PMID: 10341004) Nat Commun. 2019 Oct 24;10(1):4857. (PMID: 31649266) J Hum Reprod Sci. 2011 Jan;4(1):34-8. (PMID: 21772738) EMBO J. 1990 May;9(5):1603-14. (PMID: 2328727) J Clin Endocrinol Metab. 2001 Mar;86(3):1379-86. (PMID: 11238535) J Clin Endocrinol Metab. 1988 Aug;67(2):334-40. (PMID: 2455728) Indian J Community Med. 2013 Jan;38(1):56-8. (PMID: 23559706) Genome Res. 2004 Jan;14(1):62-6. (PMID: 14707170) Nature. 2017 Nov 2;551(7678):92-94. (PMID: 29059683) |
| معلومات مُعتمدة: | P30 ES030284 United States ES NIEHS NIH HHS; R01 HD089511 United States HD NICHD NIH HHS |
| فهرسة مساهمة: | Keywords: ESR1; endometrium; gene expression; oestradiol; progesterone |
| المشرفين على المادة: | 0 (ESR1 protein, human) 0 (Estrogen Receptor alpha) 0 (Receptors, Cytoplasmic and Nuclear) 4G7DS2Q64Y (Progesterone) 4TI98Z838E (Estradiol) |
| تواريخ الأحداث: | Date Created: 20210104 Date Completed: 20211005 Latest Revision: 20240403 |
| رمز التحديث: | 20240403 |
| مُعرف محوري في PubMed: | PMC8453628 |
| DOI: | 10.1093/molehr/gaaa082 |
| PMID: | 33394050 |
| قاعدة البيانات: | MEDLINE |
Full Text Finder | تدمد: | 1460-2407 |
|---|---|
| DOI: | 10.1093/molehr/gaaa082 |