Genome-wide association study identifies three loci associated with melanoma risk

Bishop, DT, Demenais, F, Iles, MM, Harland, M, Taylor, JC, Corda, E, Randerson-Moor, J, Aitken, JF, Avril, MF, Azizi, E, Bakker, B, Bianchi-Scarra, G, Bressac-de Paillerets, B, Calista, D, Cannon-Albright, LA, Chin-A-Woeng, T, Debniak, T, Galore-Haskel, G, Ghiorzo, P, Gut, I, Hansson, J, Hocevar, M, Hoiom, V, Hopper, JL, Ingvar, C, Kanetsky, PA, Kefford, RF, Landi, MT, Lang, J, Lubinski, J, Mackie, R, Malvehy, J, Mann, GJ, Martin, NG, Montgomery, GW, van Nieuwpoort, FA, Novakovic, S, Olsson, H, Puig, S, Weiss, M, van Workum, W, Zelenika, D, Brown, KM, Goldstein, AM, Gillanders, EM, Boland, A, Galan, P, Elder, DE, Gruis, NA, Hayward, NK, Lathrop, GM, Barrett, JH and Bishop, JAN (2009) Genome-wide association study identifies three loci associated with melanoma risk. Nature Genetics, 41 8: 920-925. doi:10.1038/ng.411


Author Bishop, DT
Demenais, F
Iles, MM
Harland, M
Taylor, JC
Corda, E
Randerson-Moor, J
Aitken, JF
Avril, MF
Azizi, E
Bakker, B
Bianchi-Scarra, G
Bressac-de Paillerets, B
Calista, D
Cannon-Albright, LA
Chin-A-Woeng, T
Debniak, T
Galore-Haskel, G
Ghiorzo, P
Gut, I
Hansson, J
Hocevar, M
Hoiom, V
Hopper, JL
Ingvar, C
Kanetsky, PA
Kefford, RF
Landi, MT
Lang, J
Lubinski, J
Mackie, R
Malvehy, J
Mann, GJ
Martin, NG
Montgomery, GW
van Nieuwpoort, FA
Novakovic, S
Olsson, H
Puig, S
Weiss, M
van Workum, W
Zelenika, D
Brown, KM
Goldstein, AM
Gillanders, EM
Boland, A
Galan, P
Elder, DE
Gruis, NA
Hayward, NK
Lathrop, GM
Barrett, JH
Bishop, JAN
Title Genome-wide association study identifies three loci associated with melanoma risk
Formatted title
Genome-wide association study identifies three loci associated with melanoma risk
Journal name Nature Genetics   Check publisher's open access policy
ISSN 1061-4036
Publication date 2009-07-05
Year available 2009
Sub-type Article (original research)
DOI 10.1038/ng.411
Volume 41
Issue 8
Start page 920
End page 925
Total pages 6
Place of publication United States
Publisher United States
Collection year 2010
Language eng
Subject C1
Abstract We report a genome-wide association study of melanoma conducted by the GenoMEL consortium based on 317K tagging SNPs for 1,650 selected cases and 4,336 controls, with replication in an additional two cohorts (1,149 selected cases and 964 controls from GenoMEL, and a population-based case-control study in Leeds of 1,163 cases and 903 controls). The genome-wide screen identified five loci with genotyped or imputed SNPs reaching P < 5 10-7. Three of these loci were replicated: 16q24 encompassing MC1R (combined P = 2.54 10-27 for rs258322), 11q14-q21 encompassing TYR (P = 2.41 10-14 for rs1393350) and 9p21 adjacent to MTAP and flanking CDKN2A (P = 4.03 10-7 for rs7023329). MC1R and TYR are associated with pigmentation, freckling and cutaneous sun sensitivity, well-recognized melanoma risk factors. Common variants within the 9p21 locus have not previously been associated with melanoma. Despite wide variation in allele frequency, these genetic variants show notable homogeneity of effect across populations of European ancestry living at different latitudes and show independent association to disease risk.
Formatted abstract
We report a genome-wide association study of melanoma conducted by the GenoMEL consortium based on 317K tagging SNPs for 1,650 selected cases and 4,336 controls, with replication in an additional two cohorts (1,149 selected cases and 964 controls from GenoMEL, and a population-based case-control study in Leeds of 1,163 cases and 903 controls). The genome-wide screen identified five loci with genotyped or imputed SNPs reaching P < 5 10-7. Three of these loci were replicated: 16q24 encompassing MC1R (combined P = 2.54 10-27 for rs258322), 11q14-q21 encompassing TYR (P = 2.41 10-14 for rs1393350) and 9p21 adjacent to MTAP and flanking CDKN2A (P = 4.03 10-7 for rs7023329). MC1R and TYR are associated with pigmentation, freckling and cutaneous sun sensitivity, well-recognized melanoma risk factors. Common variants within the 9p21 locus have not previously been associated with melanoma. Despite wide variation in allele frequency, these genetic variants show notable homogeneity of effect across populations of European ancestry living at different latitudes and show independent association to disease risk.


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We report a genome-wide association study of melanoma conducted by the GenoMEL consortium based on 317K tagging SNPs for 1,650 selected cases and 4,336 controls, with replication in an additional two cohorts (1,149 selected cases and 964 controls from GenoMEL, and a population-based case-control study in Leeds of 1,163 cases and 903 controls). The genome-wide screen identified five loci with genotyped or imputed SNPs reaching P < 5 10-7. Three of these loci were replicated: 16q24 encompassing MC1R (combined P = 2.54 10-27 for rs258322), 11q14-q21 encompassing TYR (P = 2.41 10-14 for rs1393350) and 9p21 adjacent to MTAP and flanking CDKN2A (P = 4.03 10-7 for rs7023329). MC1R and TYR are associated with pigmentation, freckling and cutaneous sun sensitivity, well-recognized melanoma risk factors. Common variants within the 9p21 locus have not previously been associated with melanoma. Despite wide variation in allele frequency, these genetic variants show notable homogeneity of effect across populations of European ancestry living at different latitudes and show independent association to disease risk.


Q-Index Code C1
Q-Index Status Confirmed Code

Document type: Journal Article
Sub-type: Article (original research)
Collections: 2010 Higher Education Research Data Collection
School of Medicine Publications
 
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Created: Fri, 26 Mar 2010, 17:06:40 EST by Amanda Jones on behalf of Medicine - Royal Brisbane and Women's Hospital