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Genome-wide and transcriptome-wide association studies of mammographic density phenotypes reveal novel loci
- Source :
- Repisalud, Instituto de Salud Carlos III (ISCIII), Chen, H, Fan, S, Stone, J, Thompson, D J, Douglas, J, Li, S, Scott, C, Bolla, M K, Wang, Q, Dennis, J, Michailidou, K, Li, C, Peters, U, Hopper, J L, Southey, M C, Nguyen-dumont, T, Nguyen, T L, Fasching, P A, Behrens, A, Cadby, G, Murphy, R A, Aronson, K, Howell, A, Astley, S, Couch, F, Olson, J, Milne, R L, Giles, G G, Haiman, C A, Maskarinec, G, Winham, S, John, E M, Kurian, A, Eliassen, H, Andrulis, I, Evans, D G, Newman, W G, Hall, P, Czene, K, Swerdlow, A, Jones, M, Pollan, M, Fernandez-navarro, P, Mcconnell, D S, Kristensen, V N, Rothstein, J H, Wang, P, Habel, L A, Sieh, W, Dunning, A M, Pharoah, P D P, Easton, D F, Gierach, G L, Tamimi, R M, Vachon, C M & Lindström, S 2022, ' Genome-wide and transcriptome-wide association studies of mammographic density phenotypes reveal novel loci ', Breast Cancer Research, vol. 24, no. 1 . https://doi.org/10.1186/s13058-022-01524-0
- Publication Year :
- 2022
- Publisher :
- Springer Science and Business Media LLC, 2022.
-
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
- Subjects :
- Genome-wide association study (GWAS)
Manchester Cancer Research Centre
ResearchInstitutes_Networks_Beacons/mcrc
Breast Neoplasms
Polymorphism, Single Nucleotide
Breast cancer
Phenotype
Humans
Female
Genetic Predisposition to Disease
ddc:610
Transcriptome
Mammographic density
Research Article
Transcriptome-wide association study (TWAS)
Breast Density
Genome-Wide Association Study
Subjects
Details
- ISSN :
- 14655411
- Database :
- OpenAIRE
- Journal :
- Repisalud, Instituto de Salud Carlos III (ISCIII), Chen, H, Fan, S, Stone, J, Thompson, D J, Douglas, J, Li, S, Scott, C, Bolla, M K, Wang, Q, Dennis, J, Michailidou, K, Li, C, Peters, U, Hopper, J L, Southey, M C, Nguyen-dumont, T, Nguyen, T L, Fasching, P A, Behrens, A, Cadby, G, Murphy, R A, Aronson, K, Howell, A, Astley, S, Couch, F, Olson, J, Milne, R L, Giles, G G, Haiman, C A, Maskarinec, G, Winham, S, John, E M, Kurian, A, Eliassen, H, Andrulis, I, Evans, D G, Newman, W G, Hall, P, Czene, K, Swerdlow, A, Jones, M, Pollan, M, Fernandez-navarro, P, Mcconnell, D S, Kristensen, V N, Rothstein, J H, Wang, P, Habel, L A, Sieh, W, Dunning, A M, Pharoah, P D P, Easton, D F, Gierach, G L, Tamimi, R M, Vachon, C M & Lindström, S 2022, ' Genome-wide and transcriptome-wide association studies of mammographic density phenotypes reveal novel loci ', Breast Cancer Research, vol. 24, no. 1 . https://doi.org/10.1186/s13058-022-01524-0
- Accession number :
- edsair.doi.dedup.....c4670b79574f09d39343b94248ad70d4
- Full Text :
- https://doi.org/10.17863/cam.84592