標題: | Characterization of large structural genetic mosaicism in human autosomes |
作者: | Machiela, Mitchell J Zhou, Weiyin Sampson, Joshua N Dean, Michael C Jacobs, Kevin B Black, Amanda Brinton, Louise A Chang, I-Shou Chen, Chu Chen, Constance Chen, Kexin Cook, Linda S Crous Bou, Marta De Vivo, Immaculata Doherty, Jennifer Friedenreich, Christine M Gaudet, Mia M Haiman, Christopher A Hankinson, Susan E Hartge, Patricia Henderson, Brian E Hong, Yun-Chul Hosgood, H Dean Hsiung, Chao A Hu, Wei Hunter, David J Jessop, Lea Kim, Hee Nam Kim, Yeul Hong Kim, Young Tae Klein, Robert Kraft, Peter Lan, Qing Lin, Dongxin Liu, Jianjun Le Marchand, Loic Liang, Xiaolin Lissowska, Jolanta Lu, Lingeng Magliocco, Anthony M Matsuo, Keitaro Olson, Sara H Orlow, Irene Park, Jae Yong Pooler, Loreall Prescott, Jennifer Rastogi, Radhai Risch, Harvey A Schumacher, Fredrick Seow, Adeline Setiawan, Veronica Wendy Shen, Hongbing Sheng, Xin Shin, Min-Ho Shu, Xiao-Ou VanDen Berg, David Wang, Jiu-Cun Wentzensen, Nicolas Wong, Maria Pik Wu, Chen Wu, Tangchun Wu, Yi-Long Xia, Lucy Yang, Hannah P PAN-CHYR YANG Zheng, Wei Zhou, Baosen Abnet, Christian C Albanes, Demetrius Aldrich, Melinda C Amos, Christopher Amundadottir, Laufey T Berndt, Sonja I Blot, William J Bock, Cathryn H Bracci, Paige M Burdett, Laurie Buring, Julie E Butler, Mary A Carreón, Tania Chatterjee, Nilanjan Chung, Charles C Cook, Michael B Cullen, Michael Davis, Faith G Ding, Ti Duell, Eric J Epstein, Caroline G Fan, Jin-Hu Figueroa, Jonine D Fraumeni, Joseph F Freedman, Neal D Fuchs, Charles S Gao, Yu-Tang Gapstur, Susan M Patiño-Garcia, Ana Garcia-Closas, Montserrat Gaziano, J Michael Giles, Graham G Gillanders, Elizabeth M Giovannucci, Edward L Goldin, Lynn Goldstein, Alisa M Greene, Mark H Hallmans, Goran Harris, Curtis C Henriksson, Roger Holly, Elizabeth A Hoover, Robert N Hu, Nan Hutchinson, Amy Jenab, Mazda Johansen, Christoffer Khaw, Kay-Tee Koh, Woon-Puay Kolonel, Laurence N Kooperberg, Charles Krogh, Vittorio Kurtz, Robert C LaCroix, Andrea Landgren, Annelie Landi, Maria Teresa Li, Donghui Liao, Linda M Malats, Nuria McGlynn, Katherine A McNeill, Lorna H McWilliams, Robert R Melin, Beatrice S Mirabello, Lisa Peplonska, Beata Peters, Ulrike Petersen, Gloria M Prokunina-Olsson, Ludmila Purdue, Mark Qiao, You-Lin Rabe, Kari G Rajaraman, Preetha Real, Francisco X Riboli, Elio Rodríguez-Santiago, Benjamín Rothman, Nathaniel Ruder, Avima M Savage, Sharon A Schwartz, Ann G Schwartz, Kendra L Sesso, Howard D Severi, Gianluca Silverman, Debra T Spitz, Margaret R Stevens, Victoria L Stolzenberg-Solomon, Rachael Stram, Daniel Tang, Ze-Zhong Taylor, Philip R Teras, Lauren R Tobias, Geoffrey S Viswanathan, Kala Wacholder, Sholom Wang, Zhaoming Weinstein, Stephanie J Wheeler, William White, Emily Wiencke, John K Wolpin, Brian M Wu, Xifeng Wunder, Jay S Yu, Kai Zanetti, Krista A Zeleniuch-Jacquotte, Anne Ziegler, Regina G de Andrade, Mariza Barnes, Kathleen C Beaty, Terri H Bierut, Laura J Desch, Karl C Doheny, Kimberly F Feenstra, Bjarke Ginsburg, David Heit, John A Kang, Jae H Laurie, Cecilia A Li, Jun Z Lowe, William L Marazita, Mary L Melbye, Mads Mirel, Daniel B Murray, Jeffrey C Nelson, Sarah C Pasquale, Louis R Rice, Kenneth Wiggs, Janey L Wise, Anastasia Tucker, Margaret Pérez-Jurado, Luis A Laurie, Cathy C Caporaso, Neil E Yeager, Meredith Chanock, Stephen J |
關鍵字: | DETECTABLE CLONAL MOSAICISM; COPY-NUMBER-VARIATION; SOMATIC MOSAICISM; MAFFUCCI SYNDROME; OLLIER DISEASE; HUMAN GENOME; MUTATIONS; CANCER; CELLS; IDENTIFICATION |
公開日期: | 5-三月-2015 |
出版社: | CELL PRESS |
卷: | 96 |
期: | 3 |
起(迄)頁: | 487 |
來源出版物: | American journal of human genetics |
摘要: | Analyses of genome-wide association study (GWAS) data have revealed that detectable genetic mosaicism involving large (>2 Mb) structural autosomal alterations occurs in a fraction of individuals. We present results for a set of 24,849 genotyped individuals (total GWAS set II [TGSII]) in whom 341 large autosomal abnormalities were observed in 168 (0.68%) individuals. Merging data from the new TGSII set with data from two prior reports (the Gene-Environment Association Studies and the total GWAS set I) generated a large dataset of 127,179 individuals; we then conducted a meta-analysis to investigate the patterns of detectable autosomal mosaicism (n = 1,315 events in 925 [0.73%] individuals). Restricting to events >2 Mb in size, we observed an increase in event frequency as event size decreased. The combined results underscore that the rate of detectable mosaicism increases with age (p value = 5.5 × 10(-31)) and is higher in men (p value = 0.002) but lower in participants of African ancestry (p value = 0.003). In a subset of 47 individuals from whom serial samples were collected up to 6 years apart, complex changes were noted over time and showed an overall increase in the proportion of mosaic cells as age increased. Our large combined sample allowed for a unique ability to characterize detectable genetic mosaicism involving large structural events and strengthens the emerging evidence of non-random erosion of the genome in the aging population. |
URI: | https://scholars.lib.ntu.edu.tw/handle/123456789/626972 |
ISSN: | 0002-9297 |
DOI: | 10.1016/j.ajhg.2015.01.011 |
顯示於: | 醫學系
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