Germline sequence variants in TGM3 and RGS22 confer risk of basal cell carcinoma

Abstract

To search for new sequence variants that confer risk of cutaneous basal cell carcinoma (BCC), we conducted agenome-wide association studyof 38.5 million single nucleotide polymorphisms (SNPs)andsmall indels identified through whole-genome sequencing of 2230 Icelanders.We imputed genotypes for 4208 BCC patients and 109 408 controls using Illumina SNPchip typing data, carried out association tests and replicated the findings in independent population samples.Wefound newBCC susceptibility loci at TGM3 (rs214782[G], P=5.5 × 10-17, OR 5 1.29) and RGS22 (rs7006527[C], P=8.7 × 3 10-13, OR 5 0.77). TGM3 encodes transglutaminase type 3, which plays a key role in production of the cornified envelope during epidermal differentiation. © The Author 2014. Published by Oxford University Press. All rights reserved. Published by Oxford University Press.