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Genome-wide association studies of pigmentation and skin cancer: a review and meta-analysis

  1. Meg R. Gerstenblith1,
  2. Jianxin Shi2,
  3. Maria Teresa Landi1

Article first published online: 14 JUN 2010

DOI: 10.1111/j.1755-148X.2010.00730.x

Issue

Pigment Cell & Melanoma Research

Pigment Cell & Melanoma Research

Volume 23, Issue 5, pages 587–606, October 2010

Additional Information

How to Cite

Gerstenblith, M. R., Shi, J. and Landi, M. T. (2010), Genome-wide association studies of pigmentation and skin cancer: a review and meta-analysis. Pigment Cell & Melanoma Research, 23: 587–606. doi: 10.1111/j.1755-148X.2010.00730.x

Author Information

  1. 1

    Genetic Epidemiology Branch/Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, MD, USA

  2. 2

    Biostatistics Branch/Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, MD, USA

*Dr. Maria Teresa Landi, e-mail: landim@mail.nih.gov

Publication History

  1. Issue published online: 1 SEP 2010
  2. Article first published online: 14 JUN 2010
  3. PUBLICATION DATA Received 14 April 2010, revised and accepted for publication 9 June 2010, published online 14 June 2010

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Keywords:

  • GWAS (genome-wide association study);
  • pigmentation;
  • skin cancer;
  • melanoma;
  • basal cell carcinoma;
  • nevi;
  • meta-analysis

Summary

Recent genome-wide association studies (GWAS) identified genetic loci associated with pigmentation, nevi, and skin cancer. We performed a review and meta-analysis of GWAS results, grouping them into four categories: (i) loci associated with pigmentation (hair, eye, and/or skin color), cutaneous UV-response (sun sensitivity and/or freckling), and skin cancer; (ii) loci associated with nevi and melanoma; (iii) loci associated with pigmentation and/or cutaneous UV-response but not skin cancer; and (iv) loci associated distinctly with skin cancer, mostly basal cell carcinoma, but not pigmentation or cutaneous UV-response. These findings suggest at least two pathways for melanoma development (via pigmentation and via nevi), and two pathways for basal cell carcinoma development (via pigmentation and independent of pigmentation). However, further work is necessary to separate the association with skin cancer from the association with pigmentation. As with any GWAS, the identified loci may not include the causal variants and may need confirmation by direct genome sequencing.

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