Genome-wide association study identifies 14 novel risk alleles associated with basal cell carcinoma

Nat Commun. 2016 Aug 19:7:12510. doi: 10.1038/ncomms12510.

Abstract

Basal cell carcinoma (BCC) is the most common cancer worldwide with an annual incidence of 2.8 million cases in the United States alone. Previous studies have demonstrated an association between 21 distinct genetic loci and BCC risk. Here, we report the results of a two-stage genome-wide association study of BCC, totalling 17,187 cases and 287,054 controls. We confirm 17 previously reported loci and identify 14 new susceptibility loci reaching genome-wide significance (P<5 × 10(-8), logistic regression). These newly associated SNPs lie within predicted keratinocyte regulatory elements and in expression quantitative trait loci; furthermore, we identify candidate genes and non-coding RNAs involved in telomere maintenance, immune regulation and tumour progression, providing deeper insight into the pathogenesis of BCC.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Alleles
  • Carcinoma, Basal Cell / genetics*
  • Carcinoma, Basal Cell / immunology
  • Carcinoma, Basal Cell / pathology
  • Case-Control Studies
  • Disease Progression
  • Female
  • Genetic Predisposition to Disease*
  • Genome-Wide Association Study*
  • Genotype
  • Humans
  • Keratinocytes / immunology
  • Keratinocytes / metabolism
  • Male
  • Middle Aged
  • Quantitative Trait Loci
  • RNA, Untranslated / genetics
  • Skin / cytology
  • Skin / pathology
  • Skin Neoplasms / genetics*
  • Skin Neoplasms / immunology
  • Skin Neoplasms / pathology
  • Telomere Homeostasis / genetics

Substances

  • RNA, Untranslated