New basal cell carcinoma susceptibility loci.
Stacey SN, Helgason H, Gudjonsson SA et al.
Publication Details
Comprehensive information about this research publication
Abstract
Summary of the research findings
In an ongoing screen for DNA sequence variants that confer risk of cutaneous basal cell carcinoma (BCC), we conduct a genome-wide association study (GWAS) of 24,988,228 SNPs and small indels detected through whole-genome sequencing of 2,636 Icelanders and imputed into 4,572 BCC patients and 266,358 controls. Here we show the discovery of four new BCC susceptibility loci: 2p24 MYCN (rs57244888[C], OR=0.76, P=4.7 × 10(-12)), 2q33 CASP8-ALS2CR12 (rs13014235[C], OR=1.15, P=1.5 × 10(-9)), 8q21 ZFHX4 (rs28727938[G], OR=0.70, P=3.5 × 10(-12)) and 10p14 GATA3 (rs73635312[A], OR=0.74, P=2.4 × 10(-16)). Fine mapping reveals that two variants correlated with rs73635312[A] occur in conserved binding sites for the GATA3 transcription factor. In addition, expression microarrays and RNA-seq show that rs13014235[C] and a related SNP rs700635[C] are associated with expression of CASP8 splice variants in which sequences from intron 8 are retained.
4,572 European ancestry cases, 266,358 European ancestry controls
Study Statistics
Key metrics and study information
AI-Generated Summary
AI-generated by DNAGENICSIndependent AI summary of health and genetic findings from the published study
Important: This summary is AI-generated by DNAGENICS for informational purposes only. It was not created by, affiliated with, or endorsed by the researchers behind the original publication, and is based solely on that published research. It may contain errors or omissions. DNAGENICS disclaims all liability for any inaccuracies or consequences arising from use of this information. Verify all information against the original publication. This is not professional scientific review or medical advice.
AI Summary In Progress
Our AI-generated summary of this publication is being prepared. Please check back soon.