New basal cell carcinoma susceptibility loci

Simon N. Stacey (), Hannes Helgason, Sigurjon A. Gudjonsson, Gudmar Thorleifsson, Florian Zink, Asgeir Sigurdsson, Birte Kehr, Julius Gudmundsson, Patrick Sulem, Bardur Sigurgeirsson, Kristrun R. Benediktsdottir, Kristin Thorisdottir, Rafn Ragnarsson, Victoria Fuentelsaz, Cristina Corredera, Yolanda Gilaberte, Matilde Grasa, Dolores Planelles, Onofre Sanmartin, Peter Rudnai, Eugene Gurzau, Kvetoslava Koppova, Bjørn A. Nexø, Anne Tjønneland, Kim Overvad, Jon G. Jonasson, Laufey Tryggvadottir, Hrefna Johannsdottir, Anna M. Kristinsdottir, Hreinn Stefansson, Gisli Masson, Olafur T. Magnusson, Bjarni V. Halldorsson, Augustine Kong, Thorunn Rafnar, Unnur Thorsteinsdottir, Ulla Vogel, Rajiv Kumar, Eduardo Nagore, José I. Mayordomo, Daniel F. Gudbjartsson, Jon H. Olafsson and Kari Stefansson ()
Additional contact information
Simon N. Stacey: deCODE Genetics/AMGEN, Sturlugata 8
Hannes Helgason: deCODE Genetics/AMGEN, Sturlugata 8
Sigurjon A. Gudjonsson: deCODE Genetics/AMGEN, Sturlugata 8
Gudmar Thorleifsson: deCODE Genetics/AMGEN, Sturlugata 8
Florian Zink: deCODE Genetics/AMGEN, Sturlugata 8
Asgeir Sigurdsson: deCODE Genetics/AMGEN, Sturlugata 8
Birte Kehr: deCODE Genetics/AMGEN, Sturlugata 8
Julius Gudmundsson: deCODE Genetics/AMGEN, Sturlugata 8
Patrick Sulem: deCODE Genetics/AMGEN, Sturlugata 8
Bardur Sigurgeirsson: Landspitali-University Hospital
Kristrun R. Benediktsdottir: Landspitali-University Hospital
Kristin Thorisdottir: Landspitali-University Hospital
Rafn Ragnarsson: Landspitali-University Hospital
Victoria Fuentelsaz: Gregorio Marañón Hospital
Cristina Corredera: Quiron Hospital
Yolanda Gilaberte: San Jorge General Hospital
Matilde Grasa: University Hospital
Dolores Planelles: Laboratory of Histocompatibility-Molecular Biology, Centro de Transfusión de la Comunidad Valenciana, Avenida del Cid, 65-A
Onofre Sanmartin: Instituto Valenciano de Oncologia
Peter Rudnai: National Institute of Environmental Health
Eugene Gurzau: Environmental Health Centre, Babes Bolyai University
Kvetoslava Koppova: Regional Authority of Public Health
Bjørn A. Nexø: University of Aarhus
Anne Tjønneland: Danish Cancer Society Research Centre
Kim Overvad: Institute of Epidemiology and Social Medicine, University of Aarhus
Jon G. Jonasson: Landspitali-University Hospital
Laufey Tryggvadottir: Faculty of Medicine, University of Iceland
Hrefna Johannsdottir: deCODE Genetics/AMGEN, Sturlugata 8
Anna M. Kristinsdottir: deCODE Genetics/AMGEN, Sturlugata 8
Hreinn Stefansson: deCODE Genetics/AMGEN, Sturlugata 8
Gisli Masson: deCODE Genetics/AMGEN, Sturlugata 8
Olafur T. Magnusson: deCODE Genetics/AMGEN, Sturlugata 8
Bjarni V. Halldorsson: deCODE Genetics/AMGEN, Sturlugata 8
Augustine Kong: deCODE Genetics/AMGEN, Sturlugata 8
Thorunn Rafnar: deCODE Genetics/AMGEN, Sturlugata 8
Unnur Thorsteinsdottir: deCODE Genetics/AMGEN, Sturlugata 8
Ulla Vogel: National Research Centre for the Working Environment
Rajiv Kumar: German Cancer Research Centre
Eduardo Nagore: Instituto Valenciano de Oncologia
José I. Mayordomo: University of Colorado
Daniel F. Gudbjartsson: deCODE Genetics/AMGEN, Sturlugata 8
Jon H. Olafsson: Landspitali-University Hospital
Kari Stefansson: deCODE Genetics/AMGEN, Sturlugata 8

Nature Communications, 2015, vol. 6, issue 1, 1-10

Abstract: Abstract In an ongoing screen for DNA sequence variants that confer risk of cutaneous basal cell carcinoma (BCC), we conduct a genome-wide association study (GWAS) of 24,988,228 SNPs and small indels detected through whole-genome sequencing of 2,636 Icelanders and imputed into 4,572 BCC patients and 266,358 controls. Here we show the discovery of four new BCC susceptibility loci: 2p24 MYCN (rs57244888[C], OR=0.76, P=4.7 × 10−12), 2q33 CASP8-ALS2CR12 (rs13014235[C], OR=1.15, P=1.5 × 10−9), 8q21 ZFHX4 (rs28727938[G], OR=0.70, P=3.5 × 10−12) and 10p14 GATA3 (rs73635312[A], OR=0.74, P=2.4 × 10−16). Fine mapping reveals that two variants correlated with rs73635312[A] occur in conserved binding sites for the GATA3 transcription factor. In addition, expression microarrays and RNA-seq show that rs13014235[C] and a related SNP rs700635[C] are associated with expression of CASP8 splice variants in which sequences from intron 8 are retained.

Date: 2015
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DOI: 10.1038/ncomms7825

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