Browsing by Keyword "Genome-wide association study (GWAS)"
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Publication Genome-wide and transcriptome-wide association studies of mammographic density phenotypes reveal novel loci(BioMed Central (BMC), 2022-04-12) 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-Santamaria, Marina; Fernandez-Navarro, Pablo L; 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; Unión Europea. Comisión Europea. H2020; Canadian Institutes of Health Research; Quebec Breast Cancer Foundation; Government of Quebec (Canadá); National Institutes of Health (Estados Unidos); Unión Europea. Comisión Europea. 7 Programa Marco; Cancer Research UK (Reino Unido); Susan G. Komen Breast Cancer Foundation; Ovarian Cancer Research Foundation (Astrualia); Australian Breast Cancer Family Study; NIH - National Cancer Institute (NCI) (Estados Unidos); National Health and Medical Research Council (Australia); New South Wales Cancer Council (Reino Unido); Victorian Cancer Agency; National Breast Cancer Foundation (Australia); Cancer Australia; Universitätsklinikum Erlangen (Alemania); Consorcio Gallego de Cáncer de Mama (BREOGAN); Instituto de Salud Carlos III; Unión Europea. Fondo Europeo de Desarrollo Regional (FEDER/ERDF); Galicia Sur Biomedical Foundation; Xunta de Galicia (España); Ministerio de Sanidad, Servicios Sociales e Igualdad (España); Ministerio de Economía y Competitividad (España); Canadian Cancer Society; NIHR - Manchester Biomedical Research Centre (Reino Unido); Cancer Council New South Wales (Australia); Cancer Council Victoria (Australia); Cancer Council Tasmania (Australia); Cancer Council South (Australia); Cancer Council Western Australia (Australia); United States Army Medical Research and Development Command; Cancer Council Queensland (Australia); NIH - NCI-Specialized Programs of Research Excellence (SPORE) in Breast Cancer (Estados Unidos); Victorian Health Promotion Foundation; The Research Council of Norway (Noruega); Southern and Eastern Norway Regional Health Authority; Norwegian Cancer Society; Agency for Science, Technology and Research (Singapur); Institute of Cancer Research (Reino Unido); NIHR - Manchester Biomedical Research Centre (Reino Unido)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.