Current opportunities and challenges: Genome-wide association studies on pigmentation and skin cancer

Shasha Meng, Mingfeng Zhang, Liming Liang, Jiali Han

Research output: Contribution to journalReview article

7 Scopus citations

Abstract

Genome-wide association studies (GWAS) have become a widely used approach for genetic association studies of various human traits. A few GWAS have been conducted with the goal of identifying novel loci for pigmentation traits, melanoma, and non-melanoma skin cancer. Nevertheless, the phenotype variation explained by the genetic markers identified so far is limited. In this review, we discuss the GWAS study design and its application in pigmentation and skin cancer research. Furthermore, we summarize recent developments in post-GWAS activities such as meta-analysis, pathway analysis, and risk prediction.

Original languageEnglish (US)
Pages (from-to)612-617
Number of pages6
JournalPigment Cell and Melanoma Research
Volume25
Issue number5
DOIs
StatePublished - Sep 1 2012
Externally publishedYes

Keywords

  • Genome-wide association study
  • Pathway analysis
  • Pigmentation
  • Single-nucleotide polymorphisms
  • Skin cancer

ASJC Scopus subject areas

  • Oncology
  • Biochemistry, Genetics and Molecular Biology(all)
  • Dermatology

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