دورية أكاديمية
Genome-wide and transcriptome-wide association studies of mammographic density phenotypes reveal novel loci
| العنوان: | Genome-wide and transcriptome-wide association studies of mammographic density phenotypes reveal novel loci |
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| المؤلفون: | Hongjie Chen, Shaoqi Fan, Jennifer Stone, Deborah J. Thompson, Julie Douglas, Shuai Li, Christopher Scott, Manjeet K. Bolla, Qin Wang, Joe Dennis, Kyriaki Michailidou, Christopher Li, Ulrike Peters, John L. Hopper, Melissa C. Southey, Tu Nguyen-Dumont, Tuong L. Nguyen, Peter A. Fasching, Annika Behrens, Gemma Cadby, Rachel A. Murphy, Kristan Aronson, Anthony Howell, Susan Astley, Fergus Couch, Janet Olson, Roger L. Milne, Graham G. Giles, Christopher A. Haiman, Gertraud Maskarinec, Stacey Winham, Esther M. John, Allison Kurian, Heather Eliassen, Irene Andrulis, D. Gareth Evans, William G. Newman, Per Hall, Kamila Czene, Anthony Swerdlow, Michael Jones, Marina Pollan, Pablo Fernandez-Navarro, Daniel S. McConnell, Vessela N. Kristensen, NBCS Investigators, Joseph H. Rothstein, Pei Wang, Laurel A. Habel, Weiva Sieh, Alison M. Dunning, Paul D. P. Pharoah, Douglas F. Easton, Gretchen L. Gierach, Rulla M. Tamimi, Celine M. Vachon, Sara Lindström |
| المصدر: | Breast Cancer Research, Vol 24, Iss 1, Pp 1-15 (2022) |
| بيانات النشر: | BMC |
| سنة النشر: | 2022 |
| المجموعة: | Directory of Open Access Journals: DOAJ Articles |
| مصطلحات موضوعية: | Mammographic density, Breast cancer, Genome-wide association study (GWAS), Transcriptome-wide association study (TWAS), Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282 |
| الوصف: | 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. |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| تدمد: | 1465-542X |
| العلاقة: | https://doi.org/10.1186/s13058-022-01524-0Test; https://doaj.org/toc/1465-542XTest; https://doaj.org/article/67ae06c41f06447f9653e94c56f11e6bTest |
| DOI: | 10.1186/s13058-022-01524-0 |
| الإتاحة: | https://doi.org/10.1186/s13058-022-01524-0Test https://doaj.org/article/67ae06c41f06447f9653e94c56f11e6bTest |
| رقم الانضمام: | edsbas.AF77018F |
| قاعدة البيانات: | BASE |
Full Text Finder | تدمد: | 1465542X |
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| DOI: | 10.1186/s13058-022-01524-0 |