New common variants affecting susceptibility to basal cell carcinoma

Simon N. Stacey, Patrick Sulem, Gisli Masson, Sigurjon A. Gudjonsson, Gudmar Thorleifsson, Margret Jakobsdottir, Asgeir Sigurdsson, Daniel F. Gudbjartsson, Bardur Sigurgeirsson, Kristrun R. Benediktsdottir, Kristin Thorisdottir, Rafn Ragnarsson, Dominique Scherer, Kari Hemminki, Peter Rudnai, Eugene Gurzau, Kvetoslava Koppova, Rafael Botella-Estrada, Virtudes Soriano, Pablo JuberiasBerta Saez, Yolanda Gilaberte, Victoria Fuentelsaz, Cristina Corredera, Matilde Grasa, Veronica Höiom, Annika Lindblom, Johannes J. Bonenkamp, Michelle M. Van Rossum, Katja K H Aben, Esther De Vries, Mario Santinami, Maria G. Di Mauro, Andrea Maurichi, Judith Wendt, Pia Hochleitner, Hubert Pehamberger, Julius Gudmundsson, Droplaug N. Magnusdottir, Solveig Gretarsdottir, Hilma Holm, Valgerdur Steinthorsdottir, Michael L. Frigge, Thorarinn Blondal, Jona Saemundsdottir, Hjördis Bjarnason, Kristleifur Kristjansson, Gyda Bjornsdottir, Ichiro Okamoto, Licia Rivoltini, Monica Rodolfo, Lambertus A. Kiemeney, Johan Hansson, Eduardo Nagore, José I. Mayordomo, Rajiv Kumar, Margaret R. Karagas, Heather H. Nelson, Jeffrey R. Gulcher, Thorunn Rafnar, Unnur Thorsteinsdottir, Jon H. Olafsson, Augustine Kong, Kari Stefansson

Research output: Contribution to journalArticle

248 Citations (Scopus)

Abstract

In a follow-up to our previously reported genome-wide association study of cutaneous basal cell carcinoma (BCC), 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 × 10 -9). A variant at 9p21 near CDKN2A and CDKN2B also confers susceptibility to BCC (rs2151280[C]; OR = 1.19, P = 6.9 × 10 -9), as does rs157935[T] at 7q32 near the imprinted gene KLF14 (OR = 1.23, P = 5.7 × 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 languageEnglish
Pages (from-to)909-914
Number of pages6
JournalNature Genetics
Volume41
Issue number8
DOIs
Publication statusPublished - Aug 2009

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Basal Cell Carcinoma
Melanoma
Pigmentation
Keratin-5
Genes
Genome-Wide Association Study
Single Nucleotide Polymorphism
Squamous Cell Carcinoma
Alleles
Skin

ASJC Scopus subject areas

  • Genetics

Cite this

Stacey, S. N., Sulem, P., Masson, G., Gudjonsson, S. A., Thorleifsson, G., Jakobsdottir, M., ... Stefansson, K. (2009). New common variants affecting susceptibility to basal cell carcinoma. Nature Genetics, 41(8), 909-914. https://doi.org/10.1038/ng.412

New common variants affecting susceptibility to basal cell carcinoma. / Stacey, Simon N.; Sulem, Patrick; Masson, Gisli; Gudjonsson, Sigurjon A.; Thorleifsson, Gudmar; Jakobsdottir, Margret; Sigurdsson, Asgeir; Gudbjartsson, Daniel F.; Sigurgeirsson, Bardur; Benediktsdottir, Kristrun R.; Thorisdottir, Kristin; Ragnarsson, Rafn; Scherer, Dominique; Hemminki, Kari; Rudnai, Peter; Gurzau, Eugene; Koppova, Kvetoslava; Botella-Estrada, Rafael; Soriano, Virtudes; Juberias, Pablo; Saez, Berta; Gilaberte, Yolanda; Fuentelsaz, Victoria; Corredera, Cristina; Grasa, Matilde; Höiom, Veronica; Lindblom, Annika; Bonenkamp, Johannes J.; Van Rossum, Michelle M.; Aben, Katja K H; De Vries, Esther; Santinami, Mario; Di Mauro, Maria G.; Maurichi, Andrea; Wendt, Judith; Hochleitner, Pia; Pehamberger, Hubert; Gudmundsson, Julius; Magnusdottir, Droplaug N.; Gretarsdottir, Solveig; Holm, Hilma; Steinthorsdottir, Valgerdur; Frigge, Michael L.; Blondal, Thorarinn; Saemundsdottir, Jona; Bjarnason, Hjördis; Kristjansson, Kristleifur; Bjornsdottir, Gyda; Okamoto, Ichiro; Rivoltini, Licia; Rodolfo, Monica; Kiemeney, Lambertus A.; Hansson, Johan; Nagore, Eduardo; Mayordomo, José I.; Kumar, Rajiv; Karagas, Margaret R.; Nelson, Heather H.; Gulcher, Jeffrey R.; Rafnar, Thorunn; Thorsteinsdottir, Unnur; Olafsson, Jon H.; Kong, Augustine; Stefansson, Kari.

In: Nature Genetics, Vol. 41, No. 8, 08.2009, p. 909-914.

Research output: Contribution to journalArticle

Stacey, SN, Sulem, P, Masson, G, Gudjonsson, SA, Thorleifsson, G, Jakobsdottir, M, Sigurdsson, A, Gudbjartsson, DF, Sigurgeirsson, B, Benediktsdottir, KR, Thorisdottir, K, Ragnarsson, R, Scherer, D, Hemminki, K, Rudnai, P, Gurzau, E, Koppova, K, Botella-Estrada, R, Soriano, V, Juberias, P, Saez, B, Gilaberte, Y, Fuentelsaz, V, Corredera, C, Grasa, M, Höiom, V, Lindblom, A, Bonenkamp, JJ, Van Rossum, MM, Aben, KKH, De Vries, E, Santinami, M, Di Mauro, MG, Maurichi, A, Wendt, J, Hochleitner, P, Pehamberger, H, Gudmundsson, J, Magnusdottir, DN, Gretarsdottir, S, Holm, H, Steinthorsdottir, V, Frigge, ML, Blondal, T, Saemundsdottir, J, Bjarnason, H, Kristjansson, K, Bjornsdottir, G, Okamoto, I, Rivoltini, L, Rodolfo, M, Kiemeney, LA, Hansson, J, Nagore, E, Mayordomo, JI, Kumar, R, Karagas, MR, Nelson, HH, Gulcher, JR, Rafnar, T, Thorsteinsdottir, U, Olafsson, JH, Kong, A & Stefansson, K 2009, 'New common variants affecting susceptibility to basal cell carcinoma', Nature Genetics, vol. 41, no. 8, pp. 909-914. https://doi.org/10.1038/ng.412
Stacey SN, Sulem P, Masson G, Gudjonsson SA, Thorleifsson G, Jakobsdottir M et al. New common variants affecting susceptibility to basal cell carcinoma. Nature Genetics. 2009 Aug;41(8):909-914. https://doi.org/10.1038/ng.412
Stacey, Simon N. ; Sulem, Patrick ; Masson, Gisli ; Gudjonsson, Sigurjon A. ; Thorleifsson, Gudmar ; Jakobsdottir, Margret ; Sigurdsson, Asgeir ; Gudbjartsson, Daniel F. ; Sigurgeirsson, Bardur ; Benediktsdottir, Kristrun R. ; Thorisdottir, Kristin ; Ragnarsson, Rafn ; Scherer, Dominique ; Hemminki, Kari ; Rudnai, Peter ; Gurzau, Eugene ; Koppova, Kvetoslava ; Botella-Estrada, Rafael ; Soriano, Virtudes ; Juberias, Pablo ; Saez, Berta ; Gilaberte, Yolanda ; Fuentelsaz, Victoria ; Corredera, Cristina ; Grasa, Matilde ; Höiom, Veronica ; Lindblom, Annika ; Bonenkamp, Johannes J. ; Van Rossum, Michelle M. ; Aben, Katja K H ; De Vries, Esther ; Santinami, Mario ; Di Mauro, Maria G. ; Maurichi, Andrea ; Wendt, Judith ; Hochleitner, Pia ; Pehamberger, Hubert ; Gudmundsson, Julius ; Magnusdottir, Droplaug N. ; Gretarsdottir, Solveig ; Holm, Hilma ; Steinthorsdottir, Valgerdur ; Frigge, Michael L. ; Blondal, Thorarinn ; Saemundsdottir, Jona ; Bjarnason, Hjördis ; Kristjansson, Kristleifur ; Bjornsdottir, Gyda ; Okamoto, Ichiro ; Rivoltini, Licia ; Rodolfo, Monica ; Kiemeney, Lambertus A. ; Hansson, Johan ; Nagore, Eduardo ; Mayordomo, José I. ; Kumar, Rajiv ; Karagas, Margaret R. ; Nelson, Heather H. ; Gulcher, Jeffrey R. ; Rafnar, Thorunn ; Thorsteinsdottir, Unnur ; Olafsson, Jon H. ; Kong, Augustine ; Stefansson, Kari. / New common variants affecting susceptibility to basal cell carcinoma. In: Nature Genetics. 2009 ; Vol. 41, No. 8. pp. 909-914.
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