Characterization of large structural genetic mosaicism in human autosome

Abnet CC; Albanes D; Aldrich MC; Amos C; Amundadottir LT; Berndt SI; Black A; Blot WJ; Bock CH; Bracci PM; Brinton LA; Burdett L; Buring JE; Butler MA; Carreón T; Chang I-S; Chatterjee N; Chen C; Chen K; Chung CC; Cook LS; Crous Bou M; De Vivo I; Dean MC; Doherty J; Friedenreich CM; Gaudet MM; Haiman CA; Hankinson SE; Hartge P; Henderson BE; Hong Y-C; Hosgood HD; Hsiung CA; Hu W; Hunter DJ; Jacobs KB; Jessop L; Kim HN; Kim YH; Kim YT; Klein R; Kraft P; Lan Q; Le Marchand L; Liang X; Lin D; Lissowska J; Liu J; Lu L; Machiela MJ; Magliocco AM; Matsuo K; Olson SH; Orlow I; Park JY; Pooler L; Prescott J; Rastogi R; Risch HA; Sampson JN; Schumacher F; Seow A; Setiawan VW; Shen H; Sheng X; Shin M-H; Shu X-O; Vanden Berg D; Wang J-C; Wentzensen N; Wong MP; Wu C; Wu T; Wu Y L; Xia L; Yang HP; Yang P-C; Zheng W; Zhou B; Zhou W

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Characterization of large structural genetic mosaicism in human autosome

Public Domain

2015/03/01
By Abnet CC ; Albanes D ; Aldrich MC ; ...

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Personal Author:

Abnet CC ; Albanes D ; Aldrich MC ; Amos C ; Amundadottir LT ; Berndt SI ; Black A ; Blot WJ ; Bock CH ; Bracci PM ; Brinton LA ; Burdett L ; Buring JE ; Butler MA ; Carreón T ; Chang I-S ; Chatterjee N ; Chen C ; Chen K ; Chung CC ; Cook LS ; Crous Bou M ; De Vivo I ; Dean MC ; Doherty J ; Friedenreich CM ; Gaudet MM ; Haiman CA ; Hankinson SE ; Hartge P ; Henderson BE ; Hong Y-C ; Hosgood HD ; Hsiung CA ; Hu W ; Hunter DJ ; Jacobs KB ; Jessop L ; Kim HN ; Kim YH ; Kim YT ; Klein R ; Kraft P ; Lan Q ; Le Marchand L ; Liang X ; Lin D ; Lissowska J ; Liu J ; Lu L ; Machiela MJ ; Magliocco AM ; Matsuo K ; Olson SH ; Orlow I ; Park JY ; Pooler L ; Prescott J ; Rastogi R ; Risch HA ; Sampson JN ; Schumacher F ; Seow A ; Setiawan VW ; Shen H ; Sheng X ; Shin M-H ; Shu X-O ; Vanden Berg D ; Wang J-C ; Wentzensen N ; Wong MP ; Wu C ; Wu T ; Wu Y L ; Xia L ; Yang HP ; Yang P-C ; Zheng W ; Zhou B ; Zhou W
Description:

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 3 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. [Description provided by NIOSH]
Subjects:

Genetics Men Mutagens Occupational Health Safety Women
Keywords:

Cell-biology Cell-function Cellular-function Cellular-reactions Diseases Humans
ISSN:

0002-9297
Document Type:

Text
Genre:

Journal Article
Place as Subject:

California ; Connecticut ; Georgia ; Hawaii ; Maryland ; Massachusetts ; New Hampshire ; New Mexico ; New York ; OSHA Region 1 ; OSHA Region 10 ; OSHA Region 2 ; OSHA Region 3 ; OSHA Region 4 ; OSHA Region 6 ; OSHA Region 9 ; Tennessee ; Texas ; Washington
CIO:

National Institute for Occupational Safety and Health (NIOSH)
Division:

DSHEFS - Division of Surveillance, Hazard Evaluations, and Field Studies ; DART - Division of Applied Research and Technology
Topic:

Workplace Safety & Health
Location:

North America
Pages in Document:

487-497
Volume:

96
Issue:

3
NIOSHTIC Number:

nn:20045960
Citation:

Am J Hum Genet 2015 Mar; 96(3):487-497
Contact Point Address:

Stephen J. Chanock, Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Bethesda, MD 20892, USA
Email:

chanocks@mail.nih.gov
Federal Fiscal Year:

2015
NORA Priority Area:

Manufacturing
Peer Reviewed:

True
Source Full Name:

American Journal of Human Genetics
Collection(s):

National Institute for Occupational Safety and Health
Main Document Checksum:

urn:sha-512:c0a6700de9c6d4895ceb693d46d09490b01be9e8f0794d7d63c6bfdb0579f46a9c09d4bb8caafcd63e88ca31b6ff26d19c6f25d783b6e2388378281207de27e6
Download URL:

https://stacks.cdc.gov/view/cdc/201167/cdc_201167_DS1.pdf
File Type:

[PDF - 1.21 MB ]

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