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To identify new risk variants for cutaneous basal cell carcinoma, we performed a genome-wide association study of 16 million SNPs identified through whole-genome sequencing of 457 Icelanders. We imputed genotypes for 41,675 Illumina SNP chip-typed Icelanders and their relatives. In the discovery phase, the strongest signal came from rs78378222[C] (odds ratio (OR) = 2.36, P = 5.2 ×-10 -17 ), which has a frequency of 0.0192 in the Icelandic population. We then confirmed this association in non-Icelandic samples (OR = 1.75, P = 0.0060; overall OR = 2.16, P = 2.2 ×-10 -20 ). rs78378222 is in the 3' untranslated region of TP53 and changes the AATAAA polyadenylation signal to AATACA, resulting in impaired 3'-end processing of TP53 mRNA. Investigation of other tumor types identified associations of this SNP with prostate cancer (OR = 1.44, P = 2.4 ×-10 -6 ), glioma (OR = 2.35, P = 1.0 ×-10 -5 ) and colorectal adenoma (OR = 1.39, P = 1.6 ×-10 -4 ). However, we observed no effect for breast cancer, a common Li-Fraumeni syndrome tumor (OR = 1.06, P = 0.57, 95% confidence interval 0.88-1.27). © 2011 Nature America, Inc. All rights reserved.

Original publication

DOI

10.1038/ng.926

Type

Journal article

Journal

Nature Genetics

Publication Date

01/11/2011

Volume

43

Pages

1098 - 1103