AI Article Synopsis
- * A large genome-wide association study analyzed 17,187 BCC cases and 287,054 controls, confirming 17 genetic loci and discovering 14 new ones linked to BCC risk.
- * The newly identified genetic markers are connected to key biological processes such as telomere maintenance and immune regulation, enhancing our understanding of how BCC develops.
Article 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.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4992160 | PMC |
| http://dx.doi.org/10.1038/ncomms12510 | DOI Listing |
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