Please use this identifier to cite or link to this item: https://hdl.handle.net/2440/121969
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Type: Journal article
Title: Characterization of large structural genetic mosaicism in human autosomes
Author: Machiela, M.
Zhou, W.
Sampson, J.
Dean, M.
Jacobs, K.
Black, A.
Brinton, L.
Chang, I.
Chen, C.
Chen, C.
Chen, K.
Cook, L.
Crous Bou, M.
De Vivo, I.
Doherty, J.
Friedenreich, C.
Gaudet, M.
Haiman, C.
Hankinson, S.
Hartge, P.
et al.
Citation: American Journal of Human Genetics, 2015; 96(3):487-497
Publisher: Cell Press
Issue Date: 2015
ISSN: 0002-9297
1537-6605
Statement of
Responsibility: 
Mitchell J.Machiela, Weiyin Zhou, Joshua N.Sampson, Michael C.Dean, Kevin B.Jacobs ... Luis A. Perez-Jurado ... et al.
Abstract: 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.
Keywords: Genotype
Rights: Copyright status unknown
DOI: 10.1016/j.ajhg.2015.01.011
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