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Genome-wide association study identifies novel loci predisposing to cutaneous melanoma.

Publication ,  Journal Article
Amos, CI; Wang, L-E; Lee, JE; Gershenwald, JE; Chen, WV; Fang, S; Kosoy, R; Zhang, M; Qureshi, AA; Vattathil, S; Schacherer, CW; Gardner, JM ...
Published in: Hum Mol Genet
December 15, 2011

We performed a multistage genome-wide association study of melanoma. In a discovery cohort of 1804 melanoma cases and 1026 controls, we identified loci at chromosomes 15q13.1 (HERC2/OCA2 region) and 16q24.3 (MC1R) regions that reached genome-wide significance within this study and also found strong evidence for genetic effects on susceptibility to melanoma from markers on chromosome 9p21.3 in the p16/ARF region and on chromosome 1q21.3 (ARNT/LASS2/ANXA9 region). The most significant single-nucleotide polymorphisms (SNPs) in the 15q13.1 locus (rs1129038 and rs12913832) lie within a genomic region that has profound effects on eye and skin color; notably, 50% of variability in eye color is associated with variation in the SNP rs12913832. Because eye and skin colors vary across European populations, we further evaluated the associations of the significant SNPs after carefully adjusting for European substructure. We also evaluated the top 10 most significant SNPs by using data from three other genome-wide scans. Additional in silico data provided replication of the findings from the most significant region on chromosome 1q21.3 rs7412746 (P = 6 × 10(-10)). Together, these data identified several candidate genes for additional studies to identify causal variants predisposing to increased risk for developing melanoma.

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Published In

Hum Mol Genet

DOI

EISSN

1460-2083

Publication Date

December 15, 2011

Volume

20

Issue

24

Start / End Page

5012 / 5023

Location

England

Related Subject Headings

  • Ubiquitin-Protein Ligases
  • Skin Neoplasms
  • Polymorphism, Single Nucleotide
  • Pigmentation
  • Meta-Analysis as Topic
  • Melanoma
  • Humans
  • Guanine Nucleotide Exchange Factors
  • Genome-Wide Association Study
  • Genetics & Heredity
 

Citation

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Amos, C. I., Wang, L.-E., Lee, J. E., Gershenwald, J. E., Chen, W. V., Fang, S., … Wei, Q. (2011). Genome-wide association study identifies novel loci predisposing to cutaneous melanoma. Hum Mol Genet, 20(24), 5012–5023. https://doi.org/10.1093/hmg/ddr415
Amos, Christopher I., Li-E Wang, Jeffrey E. Lee, Jeffrey E. Gershenwald, Wei V. Chen, Shenying Fang, Roman Kosoy, et al. “Genome-wide association study identifies novel loci predisposing to cutaneous melanoma.Hum Mol Genet 20, no. 24 (December 15, 2011): 5012–23. https://doi.org/10.1093/hmg/ddr415.
Amos CI, Wang L-E, Lee JE, Gershenwald JE, Chen WV, Fang S, et al. Genome-wide association study identifies novel loci predisposing to cutaneous melanoma. Hum Mol Genet. 2011 Dec 15;20(24):5012–23.
Amos, Christopher I., et al. “Genome-wide association study identifies novel loci predisposing to cutaneous melanoma.Hum Mol Genet, vol. 20, no. 24, Dec. 2011, pp. 5012–23. Pubmed, doi:10.1093/hmg/ddr415.
Amos CI, Wang L-E, Lee JE, Gershenwald JE, Chen WV, Fang S, Kosoy R, Zhang M, Qureshi AA, Vattathil S, Schacherer CW, Gardner JM, Wang Y, Bishop DT, Barrett JH, GenoMEL Investigators, MacGregor S, Hayward NK, Martin NG, Duffy DL, Q-Mega Investigators, Mann GJ, Cust A, Hopper J, AMFS Investigators, Brown KM, Grimm EA, Xu Y, Han Y, Jing K, McHugh C, Laurie CC, Doheny KF, Pugh EW, Seldin MF, Han J, Wei Q. Genome-wide association study identifies novel loci predisposing to cutaneous melanoma. Hum Mol Genet. 2011 Dec 15;20(24):5012–5023.
Journal cover image

Published In

Hum Mol Genet

DOI

EISSN

1460-2083

Publication Date

December 15, 2011

Volume

20

Issue

24

Start / End Page

5012 / 5023

Location

England

Related Subject Headings

  • Ubiquitin-Protein Ligases
  • Skin Neoplasms
  • Polymorphism, Single Nucleotide
  • Pigmentation
  • Meta-Analysis as Topic
  • Melanoma
  • Humans
  • Guanine Nucleotide Exchange Factors
  • Genome-Wide Association Study
  • Genetics & Heredity