Skip to main content

Thank you for visiting nature.com. You are using a browser version with limited support for CSS. To obtain the best experience, we recommend you use a more up to date browser (or turn off compatibility mode in Internet Explorer). In the meantime, to ensure continued support, we are displaying the site without styles and JavaScript.

Common sequence variants on 20q11.22 confer melanoma susceptibility

Abstract

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.

This is a preview of subscription content, access via your institution

Relevant articles

Open Access articles citing this article.

Access options

Buy article

Get time limited or full article access on ReadCube.

$32.00

All prices are NET prices.

Figure 1: Association analysis of SNPs across a region of chromosome 20q11.22.
Figure 2: Association analysis of SNPs across a region of chromosome 20q11.22 for the combined sample.

References

  1. Lens, M.B. & Dawes, M. Br. J. Dermatol. 150, 179–185 (2004).

    Article  CAS  PubMed  Google Scholar 

  2. de Snoo, F.A. & Hayward, N.K. Cancer Lett. 230, 153–186 (2005).

    Article  CAS  PubMed  Google Scholar 

  3. Palmer, J.S. et al. Am. J. Hum. Genet. 66, 176–186 (2000).

    Article  CAS  PubMed  Google Scholar 

  4. Landi, M.T. et al. J. Natl. Cancer Inst. 97, 998–1007 (2005).

    Article  CAS  PubMed  Google Scholar 

  5. Baxter, A. et al. Twin Res. Hum. Genet. 11, 183–196 (2008).

    Article  PubMed  PubMed Central  Google Scholar 

  6. Macgregor, S. et al. Nucleic Acids Res. 36, e35 (2008).

    Article  PubMed  PubMed Central  Google Scholar 

  7. Macgregor, S. et al. Nucleic Acids Res. 34, e55 (2006).

    Article  PubMed  PubMed Central  Google Scholar 

  8. Kanetsky, P.A. et al. Am. J. Hum. Genet. 70, 770–775 (2002).

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  9. Bonilla, C. et al. Hum. Genet. 116, 402–406 (2005).

    Article  CAS  PubMed  Google Scholar 

  10. Meziani, R. et al. J. Dermatol. Sci. 40, 133–136 (2005).

    Article  CAS  PubMed  Google Scholar 

  11. Johansson, P., Pavey, S. & Hayward, N. Pigment Cell Res. 20, 216–221 (2007).

    Article  CAS  PubMed  Google Scholar 

Download references

Acknowledgements

This work was supported by the National Cancer Institute (NCI) of the US National Institutes of Health (NIH) (CA88363, CA83115), the National Health and Medical Research Council of Australia (NHMRC) (380385, 389892, 496675, 402761), the Cancer Councils New South Wales, Victoria and Queensland, the Cancer Institute New South Wales, the Melanoma Research Foundation (MRF) and a charitable contribution from F. Najafi. N.K.H. and G.W.M. are supported by the NHMRC Fellowships scheme and J.L.H. is an Australia Fellow of the NHMRC. S.M. and K.M.B. are recipients of Career Development Awards from the NHMRC (496674) and MRF, respectively. K.M.B. and J.M.T. are supported by the NCI/NIH (respectively, CA109544 and CA083115; and CA109544). D.A.S. is supported by the US National Heart, Lung, and Blood Institute of the NIH (HL086528). B.K.A. is supported by the University of Sydney Medical Foundation. A.E.C. is supported by an NHMRC postdoctoral fellowship. The authors are grateful to M. Huentelman and S. Szelinger for technical assistance. The AMFS and Q-MEGA gratefully acknowledge all of their participants, the hard work of all its research interviewers and examiners, and C. Agha-Hamilton for managing the AMFS biospecimens. Q-MEGA thanks A. Baxter, M. de Nooyer, I. Gardner, D. Statham, B. Haddon, J. Palmer, B. Castellano, L. Bardsley, D. Smyth and H. Beeby for their input into project management, sample processing and database development.

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to Stuart MacGregor.

Supplementary information

Supplementary Text and Figures

Supplementary Note, Supplementary Methods, Supplementary Tables 1–6 and Supplementary Figure 1 (PDF 172 kb)

Rights and permissions

Reprints and Permissions

About this article

Cite this article

Brown, K., MacGregor, S., Montgomery, G. et al. Common sequence variants on 20q11.22 confer melanoma susceptibility. Nat Genet 40, 838–840 (2008). https://doi.org/10.1038/ng.163

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1038/ng.163

This article is cited by

Search

Quick links

Nature Briefing

Sign up for the Nature Briefing newsletter — what matters in science, free to your inbox daily.

Get the most important science stories of the day, free in your inbox. Sign up for Nature Briefing