@article{8f2c6ac0692249868f6d53eebcacb532,
title = "A genome-wide association study for malignant mesothelioma risk",
abstract = "Malignant mesothelioma (MM) is a uniformly fatal tumour of mesothelial cells. MM is caused by exposure to asbestos however most individuals 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 genome-wide 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 asbestos-exposed controls from Italy. No SNPs achieved formal genome-wide statistical significance in the Western 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.",
keywords = "Asbestos, Case-control studies, Genetics, Genome-wide association study, Mesothelioma",
author = "Gemma Cadby and Sutapa Mukherjee and Musk, {A. W.} and Alison Reid and Mike Garlepp and Ian Dick and Cleo Robinson and Jennie Hui and Giovanni Fiorito and Simonetta Guarrera and John Beilby and Melton, {Phillip E.} and Moses, {Eric K.} and Donatella Ugolini and Dario Mirabelli and Stefano Bonassi and Corrado Magnani and Irma Dianzani and Giuseppe Matullo and Bruce Robinson and Jenette Creaney and Palmer, {Lyle J.}",
note = "Funding Information: Funding for this study was obtained from the National Health and Medical Research Council of Australia (NHMRC) and the Ontario Institute of Cancer Research . Informatics and biobanking support was received from the NHMRC Enabling Facilities – the Ark, the Western Australian DNA Bank, and the Australian Biospecimens Network-Oncology (Australian Mesothelioma Tissue Bank). The authors gratefully acknowledge the patients and their families for their participation in this study, the Busselton Population Medical Research Foundation, and the assistance and support received from Nola Olsen (Western Australian Mesothelioma Registry), Naomi Hammond, The Wesley Research Institute Clinical Trials Centre and PathWest. The Italian study was supported by the Regione Piemonte Ricerca Sanitaria Finalizzata 2007, 2008, 2009 (I.D.), Fondazione Buzzi Unicem Onlus 2007 (I.D., S.B.), CIPE (I.D.), AIRC (I.D., D.U., S.B.); by Regione Piemonte and Ricerca Scientifica Applicata 2003 (D.M.); Regione Piemonte and Ricerca Sanitaria Finalizzata 2004 (C.M.) and Human Genetics Foundation – HuGeF (G.M.).",
year = "2013",
month = oct,
doi = "10.1016/j.lungcan.2013.04.018",
language = "English (US)",
volume = "82",
pages = "1--8",
journal = "Lung Cancer",
issn = "0169-5002",
publisher = "Elsevier Ireland Ltd",
number = "1",
}