Skip to main content

Genome-wide association study identifies three new melanoma susceptibility loci.

Publication ,  Journal Article
Barrett, JH; Iles, MM; Harland, M; Taylor, JC; Aitken, JF; Andresen, PA; Akslen, LA; Armstrong, BK; Avril, M-F; Azizi, E; Bakker, B; Corda, E ...
Published in: Nat Genet
October 9, 2011

We report a genome-wide association study for melanoma that was conducted by the GenoMEL Consortium. Our discovery phase included 2,981 individuals with melanoma and 1,982 study-specific control individuals of European ancestry, as well as an additional 6,426 control subjects from French or British populations, all of whom were genotyped for 317,000 or 610,000 single-nucleotide polymorphisms (SNPs). Our analysis replicated previously known melanoma susceptibility loci. Seven new regions with at least one SNP with P < 10(-5) and further local imputed or genotyped support were selected for replication using two other genome-wide studies (from Australia and Texas, USA). Additional replication came from case-control series from the UK and The Netherlands. Variants at three of the seven loci replicated at P < 10(-3): an SNP in ATM (rs1801516, overall P = 3.4 × 10(-9)), an SNP in MX2 (rs45430, P = 2.9 × 10(-9)) and an SNP adjacent to CASP8 (rs13016963, P = 8.6 × 10(-10)). A fourth locus near CCND1 remains of potential interest, showing suggestive but inconclusive evidence of replication (rs1485993, overall P = 4.6 × 10(-7) under a fixed-effects model and P = 1.2 × 10(-3) under a random-effects model). These newly associated variants showed no association with nevus or pigmentation phenotypes in a large British case-control series.

Duke Scholars

Altmetric Attention Stats
Dimensions Citation Stats

Published In

Nat Genet

DOI

EISSN

1546-1718

Publication Date

October 9, 2011

Volume

43

Issue

11

Start / End Page

1108 / 1113

Location

United States

Related Subject Headings

  • Skin Neoplasms
  • Polymorphism, Single Nucleotide
  • Melanoma
  • Humans
  • Genome-Wide Association Study
  • Genetic Predisposition to Disease
  • Developmental Biology
  • Case-Control Studies
  • 3105 Genetics
  • 3102 Bioinformatics and computational biology
 

Citation

APA
Chicago
ICMJE
MLA
NLM
Barrett, J. H., Iles, M. M., Harland, M., Taylor, J. C., Aitken, J. F., Andresen, P. A., … GenoMEL Consortium, . (2011). Genome-wide association study identifies three new melanoma susceptibility loci. Nat Genet, 43(11), 1108–1113. https://doi.org/10.1038/ng.959
Barrett, Jennifer H., Mark M. Iles, Mark Harland, John C. Taylor, Joanne F. Aitken, Per Arne Andresen, Lars A. Akslen, et al. “Genome-wide association study identifies three new melanoma susceptibility loci.Nat Genet 43, no. 11 (October 9, 2011): 1108–13. https://doi.org/10.1038/ng.959.
Barrett JH, Iles MM, Harland M, Taylor JC, Aitken JF, Andresen PA, et al. Genome-wide association study identifies three new melanoma susceptibility loci. Nat Genet. 2011 Oct 9;43(11):1108–13.
Barrett, Jennifer H., et al. “Genome-wide association study identifies three new melanoma susceptibility loci.Nat Genet, vol. 43, no. 11, Oct. 2011, pp. 1108–13. Pubmed, doi:10.1038/ng.959.
Barrett JH, Iles MM, Harland M, Taylor JC, Aitken JF, Andresen PA, Akslen LA, Armstrong BK, Avril M-F, Azizi E, Bakker B, Bergman W, Bianchi-Scarrà G, Bressac-de Paillerets B, Calista D, Cannon-Albright LA, Corda E, Cust AE, Dębniak T, Duffy D, Dunning AM, Easton DF, Friedman E, Galan P, Ghiorzo P, Giles GG, Hansson J, Hocevar M, Höiom V, Hopper JL, Ingvar C, Janssen B, Jenkins MA, Jönsson G, Kefford RF, Landi G, Landi MT, Lang J, Lubiński J, Mackie R, Malvehy J, Martin NG, Molven A, Montgomery GW, van Nieuwpoort FA, Novakovic S, Olsson H, Pastorino L, Puig S, Puig-Butille JA, Randerson-Moor J, Snowden H, Tuominen R, Van Belle P, van der Stoep N, Whiteman DC, Zelenika D, Han J, Fang S, Lee JE, Wei Q, Lathrop GM, Gillanders EM, Brown KM, Goldstein AM, Kanetsky PA, Mann GJ, Macgregor S, Elder DE, Amos CI, Hayward NK, Gruis NA, Demenais F, Bishop JAN, Bishop DT, GenoMEL Consortium. Genome-wide association study identifies three new melanoma susceptibility loci. Nat Genet. 2011 Oct 9;43(11):1108–1113.

Published In

Nat Genet

DOI

EISSN

1546-1718

Publication Date

October 9, 2011

Volume

43

Issue

11

Start / End Page

1108 / 1113

Location

United States

Related Subject Headings

  • Skin Neoplasms
  • Polymorphism, Single Nucleotide
  • Melanoma
  • Humans
  • Genome-Wide Association Study
  • Genetic Predisposition to Disease
  • Developmental Biology
  • Case-Control Studies
  • 3105 Genetics
  • 3102 Bioinformatics and computational biology