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dc.contributor.authorZhu, Q
dc.contributor.authorShepherd, L
dc.contributor.authorLunetta, KL
dc.contributor.authorYao, S
dc.contributor.authorLiu, Q
dc.contributor.authorHu, Q
dc.contributor.authorHaddad, SA
dc.contributor.authorSucheston-Campbell, L
dc.contributor.authorBensen, JT
dc.contributor.authorBandera, EV
dc.contributor.authorRosenberg, L
dc.contributor.authorLiu, S
dc.contributor.authorHaiman, CA
dc.contributor.authorOlshan, AF
dc.contributor.authorPalmer, JR
dc.contributor.authorAmbrosone, CB
dc.date.accessioned2020-12-17T03:19:52Z
dc.date.available2020-12-17T03:19:52Z
dc.date.issued2016-12-13
dc.identifierpii: 13075
dc.identifier.citationZhu, Q., Shepherd, L., Lunetta, K. L., Yao, S., Liu, Q., Hu, Q., Haddad, S. A., Sucheston-Campbell, L., Bensen, J. T., Bandera, E. V., Rosenberg, L., Liu, S., Haiman, C. A., Olshan, A. F., Palmer, J. R. & Ambrosone, C. B. (2016). Trans-ethnic follow-up of breast cancer GWAS hits using the preferential linkage disequilibrium approach.. Oncotarget, 7 (50), pp.83160-83176. https://doi.org/10.18632/oncotarget.13075.
dc.identifier.issn1949-2553
dc.identifier.urihttp://hdl.handle.net/11343/254839
dc.description.abstractLeveraging population-distinct linkage equilibrium (LD) patterns, trans-ethnic follow-up of variants discovered from genome-wide association studies (GWAS) has proved to be useful in facilitating the identification of bona fide causal variants. We previously developed the preferential LD approach, a novel method that successfully identified causal variants driving the GWAS signals within European-descent populations even when the causal variants were only weakly linked with the GWAS-discovered variants. To evaluate the performance of our approach in a trans-ethnic setting, we applied it to follow up breast cancer GWAS hits identified mostly from populations of European ancestry in African Americans (AA). We evaluated 74 breast cancer GWAS variants in 8,315 AA women from the African American Breast Cancer Epidemiology and Risk (AMBER) consortium. Only 27% of them were associated with breast cancer risk at significance level α=0.05, suggesting race-specificity of the identified breast cancer risk loci. We followed up on those replicated GWAS hits in the AMBER consortium utilizing the preferential LD approach, to search for causal variants or better breast cancer markers from the 1000 Genomes variant catalog. Our approach identified stronger breast cancer markers for 80% of the GWAS hits with at least nominal breast cancer association, and in 81% of these cases, the marker identified was among the top 10 of all 1000 Genomes variants in the corresponding locus. The results support trans-ethnic application of the preferential LD approach in search for candidate causal variants, and may have implications for future genetic research of breast cancer in AA women.
dc.languageeng
dc.publisherImpact Journals, LLC
dc.rights.urihttps://creativecommons.org/licenses/by/4.0
dc.titleTrans-ethnic follow-up of breast cancer GWAS hits using the preferential linkage disequilibrium approach.
dc.typeJournal Article
dc.identifier.doi10.18632/oncotarget.13075
melbourne.affiliation.departmentMelbourne School of Population and Global Health
melbourne.source.titleOncotarget
melbourne.source.volume7
melbourne.source.issue50
melbourne.source.pages83160-83176
dc.rights.licenseCC BY
melbourne.elementsid1324066
melbourne.openaccess.pmchttp://www.ncbi.nlm.nih.gov/pmc/articles/PMC5341253
melbourne.contributor.authorBaglietto, Laura
dc.identifier.eissn1949-2553
melbourne.accessrightsOpen Access


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