Brief Communication abstract
Nature Genetics 40, 838 - 840 (2008)
Published online: 18 May 2008 | doi:10.1038/ng.163
Common sequence variants on 20q11.22 confer melanoma susceptibility
Kevin M Brown1,23, Stuart MacGregor2,23, Grant W Montgomery2, David W Craig3, Zhen Zhen Zhao2, Kelly Iyadurai1, Anjali K Henders2, Nils Homer4, Megan J Campbell2, Mitchell Stark2, Shane Thomas2, Helen Schmid5, Elizabeth A Holland5, Elizabeth M Gillanders6, David L Duffy2, Judith A Maskiell7, Jodie Jetann8, Megan Ferguson8, Dietrich A Stephan3, Anne E Cust7, David Whiteman2, Adele Green2, Håkan Olsson9,21,22, Susana Puig10,22, Paola Ghiorzo11,22, Johan Hansson12,22, Florence Demenais13,22, Alisa M Goldstein14, Nelleke A Gruis15,22, David E Elder16,22, Julia Newton Bishop17,22, Richard F Kefford5, Graham G Giles18, Bruce K Armstrong19, Joanne F Aitken8, John L Hopper7, Nicholas G Martin2, Jeffrey M Trent20, Graham J Mann5 & Nicholas K Hayward2
We conducted a genome-wide association pooling study for cutaneous melanoma and performed validation in samples totaling 2,019 cases and 2,105 controls. Using pooling, we identified a new melanoma risk locus on chromosome 20 (rs910873 and rs1885120), with replication in two further samples (combined P < 1
10-15). The per allele odds ratio was 1.75 (1.53, 2.01), with evidence for stronger association in early-onset cases.
- Integrated Cancer Genomics Division, The Translational Genomics Research Institute, Phoenix, Arizona 85028, USA.
- The Population Studies and Genetics Division, Queensland Institute of Medical Research, Brisbane, Queensland 4029, Australia.
- Neurogenomics Division, The Translational Genomics Research Institute, Phoenix, Arizona 85028, USA.
- University of California Los Angeles, Los Angeles, California 90095, USA.
- Westmead Institute of Cancer Research and Sydney Melanoma Unit, University of Sydney at Westmead Millennium Institute, Westmead, New South Wales 2145, Australia.
- Inherited Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Baltimore, Maryland 21224, USA.
- Centre for Molecular, Environmental, Genetic and Analytic Epidemiology, School of Population Health, University of Melbourne, Melbourne, Victoria 3052, Australia.
- Viertel Centre for Research in Cancer Control, The Cancer Council Queensland, Brisbane, Queensland 4004, Australia.
- Lund Cancer Center Department of Oncology, University Hospital, SE-22185 Lund, Sweden.
- Dermatology Department, Melanoma Unit, Hospital Clínic, Institut de Investigació Biomèdica August Pi Suñe, Universitat de Barcelona, 08036 Barcelona, Spain.
- Department of Oncology, Biology, and Genetics, University of Genova, 16132 Genova, Italy.
- Department of Oncology-Pathology, Karolinska Institute and Karolinska University Hospital, Solna, S-171 76 Stockholm, Sweden.
- INSERM, U794, Fondation Jean-Dausset–CEPH, 75010 Paris, France.
- Genetic Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, Maryland 20892, USA.
- Department of Dermatology, Leiden University Medical Center, 2333 AL Leiden, The Netherlands.
- Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA.
- Section of Epidemiology and Biostatistics, Leeds Institute of Molecular Medicine, University of Leeds, Leeds LS9 7TF, UK.
- Cancer Epidemiology Centre, The Cancer Council Victoria, Carlton, Victoria 3053, Australia.
- School of Public Health, University of Sydney, Sydney, New South Wales 2006, Australia.
- Genetic Basis of Human Disease Division, The Translational Genomics Research Institute, Phoenix, Arizona 85028, USA.
- On behalf of the Lund Melanoma Group.
- On behalf of the International Melanoma Genetics Consortium (GenoMEL).
- These authors contributed equally to this work.
Correspondence to: Stuart MacGregor2,23 e-mail: stuart.macgregor@qimr.edu.au
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