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

Harvind S. Chahal, Wenting Wu, Katherine J. Ransohoff, Lingyao Yang, Haley Hedlin, Manisha Desai, Yuan Lin, Hong Ji Dai, Abrar A. Qureshi, Wen Qing Li, Peter Kraft, David A. Hinds, Jean Y. Tang, Jiali Han, Kavita Y. Sarin

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34 Scopus citations

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.

Original languageEnglish (US)
Article number12510
JournalNature communications
Volume7
DOIs
StatePublished - Aug 19 2016

ASJC Scopus subject areas

  • Chemistry(all)
  • Biochemistry, Genetics and Molecular Biology(all)
  • Physics and Astronomy(all)

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    Chahal, H. S., Wu, W., Ransohoff, K. J., Yang, L., Hedlin, H., Desai, M., Lin, Y., Dai, H. J., Qureshi, A. A., Li, W. Q., Kraft, P., Hinds, D. A., Tang, J. Y., Han, J., & Sarin, K. Y. (2016). Genome-wide association study identifies 14 novel risk alleles associated with basal cell carcinoma. Nature communications, 7, [12510]. https://doi.org/10.1038/ncomms12510