國家衛生研究院 NHRI:Item 3990099045/8649
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    题名: Characterization of large structural genetic mosaicism in human autosomes
    作者: Machiela, MJ;Zhou, W;Sampson, JN;Dean, MC;Jacobs, KB;Black, A;Brinton, LA;Chang, IS;Chen, C;Chen, K;Cook, LS;Crous Bou, M;De Vivo, I;Doherty, J;Friedenreich, CM;Gaudet, MM;Haiman, CA;Hankinson, SE;Hartge, P;Henderson, BE;Hong, YC;Hosgood, HD;Hsiung, CA;Hu, W;Hunter, DJ;Jessop, L;Kim, HN;Kim, YH;Kim, YT;Klein, R;Kraft, P;Lan, Q;Lin, D;Liu, J;Le Marchand, L;Liang, X;Lissowska, J;Lu, L;Magliocco, AM;Matsuo, K;Olson, SH;Orlow, I;Park, JY;Pooler, L;Prescott, J;Rastogi, R;Risch, HA;Schumacher, F;Seow, A;Setiawan, VW;Shen, H;Sheng, X;Shin, MH;Shu, XO;Vanden Berg, D;Wang, JC;Wentzensen, N;Wong, MP;Wu, C;Wu, T;Wu, YL;Xia, L;Yang, HP;Yang, PC;Zheng, W;Zhou, B;Abnet, CC;Albanes, D;Aldrich, MC;Amos, C;Amundadottir, LT;Berndt, SI;Blot, WJ;Bock, CH;Bracci, PM;Burdett, L;Buring, JE;Butler, MA;Carreón, T;Chatterjee, N;Chung, CC;Cook, MB;Cullen, M;Davis, FG;Ding, T;Duell, EJ;Epstein, CG;Fan, JH;Figueroa, JD;Fraumeni, JF, Jr.;Freedman, ND;Fuchs, CS;Gao, YT;Gapstur, SM;Patiño-Garcia, A;Garcia-Closas, M;Gaziano, JM;Giles, GG;Gillanders, EM, .;et al.
    贡献者: National Institute of Cancer Research;Division of Biostatistics and Bioinformatics
    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.
    日期: 2015-03-05
    關聯: American Journal of Human Genetics. 2015 Mar 5;96(3):487-497.
    Link to: http://dx.doi.org/10.1016/j.ajhg.2015.01.011
    JIF/Ranking 2023: http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=NHRI&SrcApp=NHRI_IR&KeyISSN=0002-9297&DestApp=IC2JCR
    Cited Times(WOS): https://www.webofscience.com/wos/woscc/full-record/WOS:000350747800022
    Cited Times(Scopus): http://www.scopus.com/inward/record.url?partnerID=HzOxMe3b&scp=84924140975
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