Genome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanoma

Autoria(s): Law, M.H.; Bishop, D.T.; Lee, J.E.; Brossard, M.; Martin, N.G.; Moses, E.K.; Song, F.; Barrett, J.H.; Kumar, R.; Easton, D.F.; Pharoah, P.D.P.; Swerdlow, A.J.; Kypreou, K.P.; Taylor, J.C.; Harland, M.; Randerson-Moor, J.; Akslen, L.A.; Andresen, P.A.; Avril, M.-F.; Azizi, E.; Scarrà, G.B.; Brown, K.M.; Dȩbniak, T.; Duffy, D.L.; Elder, D.E.; Fang, S.; Friedman, E.; Galan, P.; Ghiorzo, P.; Gillanders, E.M.; Goldstein, A.M.; Gruis, N.A.; Hansson, J.; Helsing, P.; Hočevar, M.; Höiom, V.; Ingvar, C.; Kanetsky, P.A.; Chen, W.V.; Landi, M.T.; Lang, J.; Lathrop, G.M.; Lubiński, J.; Mackie, R.M.; Mann, G.J.; Molven, A.; Montgomery, G.W.; Novaković, S.; Olsson, H.; Puig, S.; Puig-Butille, J.A.; Qureshi, A.A.; Radford-Smith, G.L.; Van Der Stoep, N.; Van Doorn, R.; Whiteman, D.C.; Craig, J.E.; Schadendorf, D.; Simms, L.A.; Burdon, K.P.; Nyholt, D.R.; Pooley, K.A.; Orr, N.; Stratigos, A.J.; Cust, A.E.; Ward, S.V.; Hayward, N.K.; Han, J.; Schulze, H.-J.; Dunning, A.M.; Bishop, J.A.N.; Demenais, F.; Amos, C.I.; MacGregor, S.; Iles, M.M.
Data(s)

01/09/2015
Resumo

Thirteen common susceptibility loci have been reproducibly associated with cutaneous malignant melanoma (CMM). We report the results of an international 2-stage meta-analysis of CMM genome-wide association studies (GWAS). This meta-analysis combines 11 GWAS (5 previously unpublished) and a further three stage 2 data sets, totaling 15,990 CMM cases and 26,409 controls. Five loci not previously associated with CMM risk reached genome-wide significance (P < 5 × 10−8), as did 2 previously reported but unreplicated loci and all 13 established loci. Newly associated SNPs fall within putative melanocyte regulatory elements, and bioinformatic and expression quantitative trait locus (eQTL) data highlight candidate genes in the associated regions, including one involved in telomere biology.
Formato

application/pdf
Identificador

http://eprints.qut.edu.au/91749/
Publicador

Nature Publishing Group
Relação

http://eprints.qut.edu.au/91749/1/Law2015NatGenet%5BMainText%26Figure1%262%5D.pdf

DOI:10.1038/ng.3373

Law, M.H., Bishop, D.T., Lee, J.E., Brossard, M., Martin, N.G., Moses, E.K., Song, F., Barrett, J.H., Kumar, R., Easton, D.F., Pharoah, P.D.P., Swerdlow, A.J., Kypreou, K.P., Taylor, J.C., Harland, M., Randerson-Moor, J., Akslen, L.A., Andresen, P.A., Avril, M.-F., Azizi, E., Scarrà, G.B., Brown, K.M., Dȩbniak, T., Duffy, D.L., Elder, D.E., Fang, S., Friedman, E., Galan, P., Ghiorzo, P., Gillanders, E.M., Goldstein, A.M., Gruis, N.A., Hansson, J., Helsing, P., Hočevar, M., Höiom, V., Ingvar, C., Kanetsky, P.A., Chen, W.V., Landi, M.T., Lang, J., Lathrop, G.M., Lubiński, J., Mackie, R.M., Mann, G.J., Molven, A., Montgomery, G.W., Novaković, S., Olsson, H., Puig, S., Puig-Butille, J.A., Qureshi, A.A., Radford-Smith, G.L., Van Der Stoep, N., Van Doorn, R., Whiteman, D.C., Craig, J.E., Schadendorf, D., Simms, L.A., Burdon, K.P., Nyholt, D.R., Pooley, K.A., Orr, N., Stratigos, A.J., Cust, A.E., Ward, S.V., Hayward, N.K., Han, J., Schulze, H.-J., Dunning, A.M., Bishop, J.A.N., Demenais, F., Amos, C.I., MacGregor, S., & Iles, M.M. (2015) Genome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanoma. Nature Genetics, 47(9), pp. 987-995.
Direitos

Copyright 2015 Nature America, Inc.
Fonte

School of Biomedical Sciences; Faculty of Health; Institute of Health and Biomedical Innovation
Palavras-Chave #cytochrome P450 1B1 #Article #bioinformatics #cancer risk #chromosome 10q #chromosome 11q #chromosome 15q #chromosome 6p #chromosome 7p #chromosome 9q #controlled study #cutaneous malignant melanoma #cutaneous melanoma #enhancer region #gene expression #gene identification #gene locus #genetic association #genetic susceptibility #human #keratinocyte #major clinical study #melanocyte #meta analysis #nevus #phenotype #priority journal #quantitative trait locus #single nucleotide polymorphism #skin pigmentation #telomere #transcription initiation site #cancer genetics #comparative study #DNA repair #excision repair #genetic association #heritability #promoter region #skin carcinogenesis #systematic review #telomere homeostasis
Tipo

Journal Article
Acesso ao item digital