New common variants affecting susceptibility to basal cell carcinoma

SN Stacey, P Sulem, G Masson, SA Gudjonsson, G Thorleifsson, M Jakobsdottir, A Sigurdsson, DF Gudbjartsson, B Sigurgeirsson, KR Benediktsdottir, K Thorisdottir, R Ragnarsson, D Scherer, K Hemminki, P Rudnai, E Gurzau, K Koppova, R Botella-Estrada, V Soriano, P JuberiasB Saez, Y Gilaberte, V Fuentelsaz, C Corredera, M Grasa, V Hoiom, A Lindblom, JJ Bonenkamp, MM van Rossum, KKH Aben, Esther Vries, M Santinami, MG Di Mauro, A Maurichi, J Wendt, P Hochleitner, H Pehamberger, J Gudmundsson, DN Magnusdottir, S Gretarsdottir, H Holm, V Steinthorsdottir, ML Frigge, T Blondal, J Saemundsdottir, H Bjarnason, K Kristjansson, G Bjornsdottir, I Okamoto, L Rivoltini, M Rodolfo, LA Kiemeney, J Hansson, E Nagore, JI Mayordomo, R Kumar, MR Karagas, HH Nelson, JR Gulcher, T Rafnar, U Thorsteinsdottir, JH Olafsson, A Kong, K Stefansson

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274 Citations (Scopus)

Abstract

In a follow-up to our previously reported genome-wide association study of cutaneous basal cell carcinoma (BCC)(1), we describe here several new susceptibility variants. SNP rs11170164, encoding a G138E substitution in the keratin 5 (KRT5) gene, affects risk of BCC (OR = 1.35, P = 2.1 x 10(-9)). A variant at 9p21 near CDKN2A and CDKN2B also confers susceptibility to BCC (rs2151280[C]; OR = 1.19, P = 6.9 x 10(-9)), as does rs157935[T] at 7q32 near the imprinted gene KLF14 (OR = 1.23, P = 5.7 x 10(-10)). The effect of rs157935[T] is dependent on the parental origin of the risk allele. None of these variants were found to be associated with melanoma or fair-pigmentation traits. A melanoma-and pigmentation-associated variant in the SLC45A2 gene, L374F, is associated with risk of both BCC and squamous cell carcinoma. Finally, we report conclusive evidence that rs401681[C] in the TERT-CLPTM1L locus confers susceptibility to BCC but protects against melanoma.
Original languageUndefined/Unknown
Pages (from-to)909-U69
JournalNature Genetics
Volume41
Issue number8
DOIs
Publication statusPublished - 2009

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