Characterization of large structural genetic mosaicism in human autosomes.

American journal of human genetics, 2015; 96 (3) doi:10.1016/j.ajhg.2015.01.011

Authors: Machiela Mitchell J, Zhou Weiyin, Sampson Joshua N, Dean Michael C, Jacobs Kevin B et al.(194)

Affiliation: National Cancer Institute, 20892, MD, United States; National Cancer Institute, 20892, MD, United States; Leidos Biomedical Research, Frederick, MD, United States; National Cancer Institute, 20892, MD, United States; National Cancer Institute at Frederick, 21702, MD, United States (show more (233))

Sample size: 47

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.

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