Germline sequence variants in TGM3 and RGS22 confer risk of basal cell carcinoma
SN Stacey, P Sulem, DF Gudbjartsson… - Human molecular …, 2014 - academic.oup.com
Human molecular genetics, 2014•academic.oup.com
To search for new sequence variants that confer risk of cutaneous basal cell carcinoma
(BCC), we conducted a genome-wide association study of 38.5 million single nucleotide
polymorphisms (SNPs) and small indels identified through whole-genome sequencing of
2230 Icelanders. We imputed genotypes for 4208 BCC patients and 109 408 controls using
Illumina SNP chip typing data, carried out association tests and replicated the findings in
independent population samples. We found new BCC susceptibility loci at TGM3 (rs214782 …
(BCC), we conducted a genome-wide association study of 38.5 million single nucleotide
polymorphisms (SNPs) and small indels identified through whole-genome sequencing of
2230 Icelanders. We imputed genotypes for 4208 BCC patients and 109 408 controls using
Illumina SNP chip typing data, carried out association tests and replicated the findings in
independent population samples. We found new BCC susceptibility loci at TGM3 (rs214782 …
Abstract
To search for new sequence variants that confer risk of cutaneous basal cell carcinoma (BCC), we conducted a genome-wide association study of 38.5 million single nucleotide polymorphisms (SNPs) and small indels identified through whole-genome sequencing of 2230 Icelanders. We imputed genotypes for 4208 BCC patients and 109 408 controls using Illumina SNP chip typing data, carried out association tests and replicated the findings in independent population samples. We found new BCC susceptibility loci at TGM3 (rs214782[G], P = 5.5 × 10−17, OR = 1.29) and RGS22 (rs7006527[C], P = 8.7 × 10−13, OR = 0.77). TGM3 encodes transglutaminase type 3, which plays a key role in production of the cornified envelope during epidermal differentiation.
