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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.J. Zhou, W. Sampson, J.N. Dean, M.C. Jacobs, K.B. Black, A. Brinton, L.A. Chang, I.S. Chen, C. Chen, C. Chen, K. Cook, L.S. Crous Bou, M. De Vivo, I. Doherty, J. Friedenreich, C.M. Gaudet, M.M. Haiman, C.A. Hankinson, S.E. 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 |
Published version: | http://dx.doi.org/10.1016/j.ajhg.2015.01.011 |
Appears in Collections: | Aurora harvest 8 Medicine publications |
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