Genome-wide and transcriptome-wide association studies of mammographic density phenotypes reveal novel loci.
Обработка статьи · этапы, ошибки и управление
Ошибки и ограничения
История · было → стало
Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.
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, NBCS Investigators, 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
Аннотация
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.