Data

Genome-wide and transcriptome-wide association studies of mammographic density phenotypes reveal novel loci

The University of Western Australia
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
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ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Adc&rfr_id=info%3Asid%2FANDS&rft_id=info:doi10.6084/m9.figshare.c.5945346&rft.title=Genome-wide and transcriptome-wide association studies of mammographic density phenotypes reveal novel loci&rft.identifier=10.6084/m9.figshare.c.5945346&rft.publisher=Figshare&rft.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 identified 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 identified 28 genome-wide significant 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 &rft.creator=Chen, Hongjie &rft.creator=Fan, Shaoqi &rft.creator=Stone, Jennifer &rft.creator=Thompson, Deborah J. &rft.creator=Douglas, Julie &rft.creator=Li, Shuai &rft.creator=Scott, Christopher &rft.creator=Bolla, Manjeet K. &rft.creator=Wang, Qin &rft.creator=Dennis, Joe &rft.creator=Michailidou, Kyriaki &rft.creator=Li, Christopher &rft.creator=Peters, Ulrike &rft.creator=Hopper, John L. &rft.creator=Southey, Melissa C. &rft.creator=Nguyen-Dumont, Tu &rft.creator=Nguyen, Tuong L. &rft.creator=Fasching, Peter A. &rft.creator=Behrens, Annika &rft.creator=Cadby, Gemma &rft.creator=Murphy, Rachel A. &rft.creator=Aronson, Kristan &rft.creator=Howell, Anthony &rft.creator=Astley, Susan &rft.creator=Couch, Fergus &rft.creator=Olson, Janet &rft.creator=Milne, Roger L. &rft.creator=Giles, Graham G. &rft.creator=Haiman, Christopher A. &rft.creator=Maskarinec, Gertraud &rft.creator=Winham, Stacey &rft.creator=John, Esther M. &rft.creator=Kurian, Allison &rft.creator=Eliassen, Heather &rft.creator=Andrulis, Irene &rft.creator=Evans, D. Gareth &rft.creator=Newman, William G. &rft.creator=Hall, Per &rft.creator=Czene, Kamila &rft.creator=Swerdlow, Anthony &rft.creator=Jones, Michael &rft.creator=Pollan, Marina &rft.creator=Fernandez-Navarro, Pablo &rft.creator=McConnell, Daniel S. &rft.creator=Kristensen, Vessela N. &rft.creator=Rothstein, Joseph H. &rft.creator=Wang, Pei &rft.creator=Habel, Laurel A. &rft.creator=Sieh, Weiva &rft.creator=Dunning, Alison M. &rft.creator=Pharoah, Paul D. P. &rft.creator=Easton, Douglas F. &rft.creator=Gierach, Gretchen L. &rft.creator=Tamimi, Rulla M. &rft.creator=Vachon, Celine M. &rft.creator=Lindström, Sara &rft.date=2022&rft.relation=http://research-repository.uwa.edu.au/en/publications/ee1e05d3-67f9-41db-b639-00312a29d75e&rft.type=dataset&rft.language=English Access the data
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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 identified 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 identified 28 genome-wide significant 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 identified two novel genes (SHOX2 and CRISPLD2) whose genetically predicted expression was significantly associated with MD phenotypes. Conclusions Our findings provided novel insight into the genetic background of MD phenotypes, and further demonstrated their shared genetic basis with breast cancer.

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External Organisations
University of Washington; National Cancer Institute; University of Cambridge; University of Michigan; Skidmore College; Monash University; University of Melbourne; Mayo Clinic; Cyprus Institute of Neurology and Genetics; University Hospital Erlangen; The University of Western Australia; University of British Columbia; Queen's University Kingston; University of Manchester; University of Southern California; University of Hawai'i at Mānoa; Stanford University; Brigham and Women's Hospital; Lunenfeld-Tanenbaum Research Institute; Karolinska Institutet; Institute of Cancer Research; Instituto de Salud Carlos III; Oslo University Hospital; Icahn School of Medicine at Mount Sinai; Kaiser Permanente; Cornell University
Associated Persons
Julie Douglas (Creator); Shuai Li (Creator); Christopher Scott (Creator); Michael Jones (Creator)Hongjie Chen (Creator); Shaoqi Fan (Creator); Deborah J. Thompson (Creator); Manjeet K. Bolla (Creator); Qin Wang (Creator); Joe Dennis (Creator); Kyriaki Michailidou (Creator); Christopher Li (Creator); Ulrike Peters (Creator); John L. Hopper (Creator); Melissa C. Southey (Creator); Tu Nguyen-Dumont (Creator); Tuong L. Nguyen (Creator); Peter A. Fasching (Creator); Annika Behrens (Creator); Kristan Aronson (Creator); Anthony Howell (Creator); Susan Astley (Creator); Fergus Couch (Creator); Janet Olson (Creator); Roger L. Milne (Creator); Graham G. Giles (Creator); Christopher A. Haiman (Creator); Gertraud Maskarinec (Creator); Stacey Winham (Creator); Esther M. John (Creator); Allison Kurian (Creator); Heather Eliassen (Creator); Irene Andrulis (Creator); D. Gareth Evans (Creator); William G. Newman (Creator); Per Hall (Creator); Kamila Czene (Creator); Anthony Swerdlow (Creator); Marina Pollan (Creator); Pablo Fernandez-Navarro (Creator); Daniel S. McConnell (Creator); Vessela N. Kristensen (Creator); Joseph H. Rothstein (Creator); Pei Wang (Creator); Laurel A. Habel (Creator); Weiva Sieh (Creator); Alison M. Dunning (Creator); Paul D. P. Pharoah (Creator); Douglas F. Easton (Creator); Gretchen L. Gierach (Creator); Rulla M. Tamimi (Creator); Celine M. Vachon (Creator); Sara Lindström (Creator)

Issued: 2022-04-13

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