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Hum Mol Genet. 2014 Jun 1;23(11):3045-53. doi: 10.1093/hmg/ddt671. Epub 2014 Jan 8.

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

Author information

1
deCODE Genetics/AMGEN, Sturlugata 8, 101 Reykjavik, Iceland.

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.

PMID:
24403052
PMCID:
PMC4014188
DOI:
10.1093/hmg/ddt671
[Indexed for MEDLINE]
Free PMC Article

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