Common sequence variants on 20q11.22 confer melanoma susceptibility

• Published in: Nature genetics Vol. 40; no. 7; pp. 838 - 840
• Main Authors: Hansson, Johan, Kefford, Richard F, Hopper, John L, Iyadurai, Kelly, Whiteman, David, Stark, Mitchell, Giles, Graham G, Aitken, Joanne F, Zhao, Zhen Zhen, Jetann, Jodie, Bishop, Julia Newton, Gillanders, Elizabeth M, Puig, Susana, Craig, David W, MacGregor, Stuart, Hayward, Nicholas K, Holland, Elizabeth A, Brown, Kevin M, Demenais, Florence, K Henders, Anjali, Cust, Anne E, Green, Adele, Mann, Graham J, Montgomery, Grant W, Schmid, Helen, Ghiorzo, Paola, Homer, Nils, Gruis, Nelleke A, Armstrong, Bruce K, Goldstein, Alisa M, Duffy, David L, Ferguson, Megan, Trent, Jeffrey M, Stephan, Dietrich A, Martin, Nicholas G, Thomas, Shane, Campbell, Megan J, Elder, David E, Maskiell, Judith A, Olsson, Håkan
• Format: Journal Article
• Language: English
• Published: New York Nature Publishing Group US 01-07-2008; Nature Publishing Group
• Subjects: Adult; Age of Onset; Agriculture; Animal Genetics and Genomics; Biomedical and Life Sciences; Biomedicine; brief-communication; Cancer; Cancer and Oncology; Cancer och onkologi; Cancer Research; Case-Control Studies; Chromosomes, Human, Pair 20; Clinical Medicine; Gene Function; Genes; Genetic Predisposition to Disease; Genetics; Human Genetics; Humans; Independent sample; Klinisk medicin; Linkage Disequilibrium; Medical and Health Sciences; Medicin och hälsovetenskap; Melanoma; Melanoma - genetics; Odds Ratio; Polymorphism, Single Nucleotide; Skin Neoplasms - genetics
• ISSN: 1061-4036; 1546-1718; 1546-1718
• DOI: 10.1038/ng.163

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.