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A genome-wide association study for malignant mesothelioma risk


Cadby, G and Mukherjee, S and Musk, AW and Reid, A and Garlepp, M and Dick, I and Robinson, C and Hui, J and Fiorito, G and Guarrera, S and Beilby, J and Melton, PE and Moses, EK and Ugolini, D and Mirabelli, D and Bonassi, S and Magnani, C and Dianzani, I and Matullo, G and Robinson, B and Creaney, J and Palmer, LJ, A genome-wide association study for malignant mesothelioma risk, Lung Cancer, 82, (1) pp. 1-8. ISSN 0169-5002 (2013) [Refereed Article]

DOI: doi:10.1016/j.lungcan.2013.04.018


Malignant mesothelioma (MM)is a uniformly fataltumour of mesothelial cells. MM is caused by exposure to asbestos however mostindividuals with documented asbestos exposure do not develop MM. Although MM appears to aggregate within families, the genetics of MM susceptibility is a relatively unexplored area. The aim of the current study was to identify genetic factors that contribute to MM risk. A genomewide association analysis of 2,508,203 single nucleotide polymorphisms (SNPs) from 428 MM cases and 1269 controls from Western Australia was performed. Additional genotyping was performed on a sample of 778 asbestos-exposed Western Australian controls. Replication of the most strongly associated SNPs was undertaken in an independent case–control study of 392 asbestos-exposed cases and 367 asbestosexposed controls from Italy. No SNPs achieved formal genome-wide statistical significance in theWestern Australian study. However, suggestive results for MM risk were identified in the SDK1, CRTAM and RASGRF2 genes, and in the 2p12 chromosomal region. These findings were not replicated in the Italian study, although there was some evidence of replication in the region of SDK1. These suggestive associations will be further investigated in sequencing and functional studies.

Item Details

Item Type:Refereed Article
Keywords:Asbestos; Case–control studies; Genetics; Genome-wide association study; Mesothelioma
Research Division:Biological Sciences
Research Group:Genetics
Research Field:Gene mapping
Objective Division:Health
Objective Group:Clinical health
Objective Field:Clinical health not elsewhere classified
UTAS Author:Melton, PE (Dr Phillip Melton)
ID Code:144311
Year Published:2013
Web of Science® Times Cited:31
Deposited By:Menzies Institute for Medical Research
Deposited On:2021-05-11
Last Modified:2021-05-11

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