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Fine mapping of variants associated with endometriosis in the WNT4 region on chromosome 1p36

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  • معلومة اضافية
    • بيانات النشر:
      e-Century Publishing
    • الموضوع:
      2013
    • Collection:
      Queensland University of Technology: QUT ePrints
    • نبذة مختصرة :
      Genome-wide association studies show strong evidence of association with endometriosis for markers on chromosome 1p36 spanning the potential candidate genes WNT4, CDC42 and LINC00339. WNT4 is involved in development of the uterus, and the expression of CDC42 and LINC00339 are altered in women with endometriosis. We conducted fine mapping to examine the role of coding variants in WNT4 and CDC42 and determine the key SNPs with strongest evidence of association in this region. We identified rare coding variants in WNT4 and CDC42 present only in endometriosis cases. The frequencies were low and cannot account for the common signal associated with increased risk of endometriosis. Genotypes for five common SNPs in the region of chromosome 1p36 show stronger association signals when compared with rs7521902 reported in published genome scans. Of these, three SNPs rs12404660, rs3820282, and rs55938609 were located in DNA sequences with potential functional roles including overlap with transcription factor binding sites for FOXA1, FOXA2, ESR1, and ESR2. Functional studies will be required to identify the gene or genes implicated in endometriosis risk.
    • File Description:
      application/pdf
    • Relation:
      https://eprints.qut.edu.au/91825/1/91825.pdf; http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3852639/pdf/ijmeg0004-0193.pdf; Luong, Hien, Painter, Jodie, Shakhbazov, Konstantin, Chapman, Brett, Henders, Anjali, Powell, Joseph, Nyholt, Dale, & Montgomery, Grant (2013) Fine mapping of variants associated with endometriosis in the WNT4 region on chromosome 1p36. International Journal of Molecular Epidemiology and Genetics, 4(4), pp. 193-206.; https://eprints.qut.edu.au/91825/; Faculty of Health; Institute of Health and Biomedical Innovation
    • Rights:
      free_to_read ; Consult author(s) regarding copyright matters ; This work is covered by copyright. Unless the document is being made available under a Creative Commons Licence, you must assume that re-use is limited to personal use and that permission from the copyright owner must be obtained for all other uses. If the document is available under a Creative Commons License (or other specified license) then refer to the Licence for details of permitted re-use. It is a condition of access that users recognise and abide by the legal requirements associated with these rights. If you believe that this work infringes copyright please provide details by email to qut.copyright@qut.edu.au
    • الرقم المعرف:
      edsbas.BE663AEA