Genome-wide and transcriptome-wide association studies of mammographic density phenotypes reveal novel loci
dc.date.accessioned | 2023-03-12T17:22:51Z | |
dc.date.available | 2023-03-12T17:22:51Z | |
dc.date.created | 2022-06-13T09:54:29Z | |
dc.date.issued | 2022 | |
dc.identifier.citation | Chen, Hongjie Fan, Shaoqi Stone, Jennifer Thompson, Deborah J. Douglas, Julie Li, Shuai Scott, Christopher Bolla, Manjeet K. Wang, Qin Dennis, Joe Michailidou, Kyriaki Li, Christopher Peters, Ulrike Hopper, John L. Southey, Melissa C. Nguyen-Dumont, Tu Nguyen, Tuong L. Fasching, Peter A. Behrens, Annika Cadby, Gemma Murphy, Rachel A. Aronson, Kristan Howell, Anthony Astley, Susan Couch, Fergus Olson, Janet Milne, Roger L. Giles, Graham G. Haiman, Christopher A. Maskarinec, Gertraud Winham, Stacey John, Esther M. Kurian, Allison Eliassen, Heather Andrulis, Irene Evans, D Gareth Newman, William G. Hall, Per Czene, Kamila Swerdlow, Anthony Jones, Michael Pollan, Marina Fernandez-Navarro, Pablo McConnell, Daniel S. Kristensen, Vessela N. Rothstein, Joseph H. Wang, Pei Habel, Laurel A. Sieh, Weiva Dunning, Alison M. Pharoah, Paul D P Easton, Douglas F. Gierach, Gretchen L. Tamimi, Rulla M. Vachon, Celine M. Lindström, Sara . Genome-wide and transcriptome-wide association studies of mammographic density phenotypes reveal novel loci. Breast Cancer Research. 2022, 24(27) | |
dc.identifier.uri | http://hdl.handle.net/10852/101324 | |
dc.description.abstract | Background: Mammographic density (MD) phenotypes, including percent density (PMD), area of dense tissue (DA), and area of non-dense tissue (NDA), are associated with breast cancer risk. Twin studies suggest that MD phenotypes are highly heritable. However, only a small proportion of their variance is explained by identifed genetic variants. Methods: We conducted a genome-wide association study, as well as a transcriptome-wide association study (TWAS), of age- and BMI-adjusted DA, NDA, and PMD in up to 27,900 European-ancestry women from the MODE/ BCAC consortia. Results: We identifed 28 genome-wide signifcant loci for MD phenotypes, including nine novel signals (5q11.2, 5q14.1, 5q31.1, 5q33.3, 5q35.1, 7p11.2, 8q24.13, 12p11.2, 16q12.2). Further, 45% of all known breast cancer SNPs were associated with at least one MD phenotype at p<0.05. TWAS further identifed two novel genes (SHOX2 and CRISPLD2) whose genetically predicted expression was signifcantly associated with MD phenotypes. Conclusions: Our fndings provided novel insight into the genetic background of MD phenotypes, and further demonstrated their shared genetic basis with breast cancer. Keywords: Mammographic density, Breast cancer, Genome-wide association study (GWAS), Transcriptome-wide association study (TWAS) | |
dc.language | EN | |
dc.rights | Attribution 4.0 International | |
dc.rights.uri | https://creativecommons.org/licenses/by/4.0/ | |
dc.title | Genome-wide and transcriptome-wide association studies of mammographic density phenotypes reveal novel loci | |
dc.title.alternative | ENEngelskEnglishGenome-wide and transcriptome-wide association studies of mammographic density phenotypes reveal novel loci | |
dc.type | Journal article | |
dc.creator.author | Chen, Hongjie | |
dc.creator.author | Fan, Shaoqi | |
dc.creator.author | Stone, Jennifer | |
dc.creator.author | Thompson, Deborah J. | |
dc.creator.author | Douglas, Julie | |
dc.creator.author | Li, Shuai | |
dc.creator.author | Scott, Christopher | |
dc.creator.author | Bolla, Manjeet K. | |
dc.creator.author | Wang, Qin | |
dc.creator.author | Dennis, Joe | |
dc.creator.author | Michailidou, Kyriaki | |
dc.creator.author | Li, Christopher | |
dc.creator.author | Peters, Ulrike | |
dc.creator.author | Hopper, John L. | |
dc.creator.author | Southey, Melissa C. | |
dc.creator.author | Nguyen-Dumont, Tu | |
dc.creator.author | Nguyen, Tuong L. | |
dc.creator.author | Fasching, Peter A. | |
dc.creator.author | Behrens, Annika | |
dc.creator.author | Cadby, Gemma | |
dc.creator.author | Murphy, Rachel A. | |
dc.creator.author | Aronson, Kristan | |
dc.creator.author | Howell, Anthony | |
dc.creator.author | Astley, Susan | |
dc.creator.author | Couch, Fergus | |
dc.creator.author | Olson, Janet | |
dc.creator.author | Milne, Roger L. | |
dc.creator.author | Giles, Graham G. | |
dc.creator.author | Haiman, Christopher A. | |
dc.creator.author | Maskarinec, Gertraud | |
dc.creator.author | Winham, Stacey | |
dc.creator.author | John, Esther M. | |
dc.creator.author | Kurian, Allison | |
dc.creator.author | Eliassen, Heather | |
dc.creator.author | Andrulis, Irene | |
dc.creator.author | Evans, D Gareth | |
dc.creator.author | Newman, William G. | |
dc.creator.author | Hall, Per | |
dc.creator.author | Czene, Kamila | |
dc.creator.author | Swerdlow, Anthony | |
dc.creator.author | Jones, Michael | |
dc.creator.author | Pollan, Marina | |
dc.creator.author | Fernandez-Navarro, Pablo | |
dc.creator.author | McConnell, Daniel S. | |
dc.creator.author | Kristensen, Vessela N. | |
dc.creator.author | Rothstein, Joseph H. | |
dc.creator.author | Wang, Pei | |
dc.creator.author | Habel, Laurel A. | |
dc.creator.author | Sieh, Weiva | |
dc.creator.author | Dunning, Alison M. | |
dc.creator.author | Pharoah, Paul D P | |
dc.creator.author | Easton, Douglas F. | |
dc.creator.author | Gierach, Gretchen L. | |
dc.creator.author | Tamimi, Rulla M. | |
dc.creator.author | Vachon, Celine M. | |
dc.creator.author | Lindström, Sara | |
cristin.unitcode | 185,53,18,10 | |
cristin.unitname | Avdeling for medisinsk genetikk | |
cristin.ispublished | true | |
cristin.fulltext | original | |
cristin.qualitycode | 2 | |
dc.identifier.cristin | 2031273 | |
dc.identifier.bibliographiccitation | info:ofi/fmt:kev:mtx:ctx&ctx_ver=Z39.88-2004&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.jtitle=Breast Cancer Research&rft.volume=24&rft.spage=&rft.date=2022 | |
dc.identifier.jtitle | Breast Cancer Research | |
dc.identifier.volume | 24 | |
dc.identifier.issue | 1 | |
dc.identifier.pagecount | 15 | |
dc.identifier.doi | https://doi.org/10.1186/s13058-022-01524-0 | |
dc.type.document | Tidsskriftartikkel | |
dc.type.peerreviewed | Peer reviewed | |
dc.source.issn | 1465-5411 | |
dc.type.version | PublishedVersion | |
cristin.articleid | 27 |
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