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

Simon N. Stacey, Patrick Sulem, Daniel F. Gudbjartsson, Aslaug Jonasdottir, Gudmar Thorleifsson, Sigurjon A. Gudjonsson, Gisli Masson, Julius Gudmundsson, Bardur Sigurgeirsson, Kristrun R. Benediktsdottir, Kristin Thorisdottir, Rafn Ragnarsson, Victoria Fuentelsaz, Cristina Corredera, Matilde Grasa, Dolores Planelles, Onofre Sanmartin, Peter Rudnai, Eugene Gurzau, Kvetoslava KoppovaKari Hemminki, Bjørn A. Nexø, Anne Tjønneland, Kim Overvad, Hrefna Johannsdottir, Hafdis T. Helgadottir, Unnur Thorsteinsdottir, Augustine Kong, Ulla Vogel, Rajiv Kumar, Eduardo Nagore, José I. Mayordomo, Thorunn Rafnar, Jon H. Olafsson, Kari Stefansson

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29 Citations (Scopus)


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.

Original languageEnglish
Article numberddt671
Pages (from-to)3045-3053
Number of pages9
JournalHuman molecular genetics
Issue number11
Publication statusPublished - Jan 1 2014

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Genetics(clinical)

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    Stacey, S. N., Sulem, P., Gudbjartsson, D. F., Jonasdottir, A., Thorleifsson, G., Gudjonsson, S. A., Masson, G., Gudmundsson, J., Sigurgeirsson, B., Benediktsdottir, K. R., Thorisdottir, K., Ragnarsson, R., Fuentelsaz, V., Corredera, C., Grasa, M., Planelles, D., Sanmartin, O., Rudnai, P., Gurzau, E., ... Stefansson, K. (2014). Germline sequence variants in TGM3 and RGS22 confer risk of basal cell carcinoma. Human molecular genetics, 23(11), 3045-3053. [ddt671].