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New basal cell carcinoma susceptibility loci.

Nat Commun. 2015 Apr 09;6:6825
Simon N Stacey 1 , Hannes Helgason 1 , Sigurjon A Gudjonsson 1 , Gudmar Thorleifsson 1 , Florian Zink 1 , Asgeir Sigurdsson 1 , Birte Kehr 1 , Julius Gudmundsson 1 , Patrick Sulem 1 , Bardur Sigurgeirsson 2 , Kristrun R Benediktsdottir 2 , Kristin Thorisdottir 2 , Rafn Ragnarsson 2 , Victoria Fuentelsaz 3 , Cristina Corredera 4 , Yolanda Gilaberte 5 , Matilde Grasa 6 , Dolores Planelles 7 , Onofre Sanmartin 8 , Peter Rudnai 9 , Eugene Gurzau 10 , Kvetoslava Koppova 11 , Bjørn A Nexø 12 , Anne Tjønneland 13 , Kim Overvad 14 , Jon G Jonasson 15 , Laufey Tryggvadottir 16 , Hrefna Johannsdottir 1 , Anna M Kristinsdottir 1 , Hreinn Stefansson 1 , Gisli Masson 1 , Olafur T Magnusson 1 , Bjarni V Halldorsson 17 , Augustine Kong 1 , Thorunn Rafnar 1 , Unnur Thorsteinsdottir 18 , Ulla Vogel 19 , Rajiv Kumar 20 , Eduardo Nagore 8 , José I Mayordomo 21 , Daniel F Gudbjartsson 1 , Jon H Olafsson 2 , Kari Stefansson 18
Simon N Stacey 1 , Hannes Helgason 1 , Sigurjon A Gudjonsson 1 , Gudmar Thorleifsson 1 , Florian Zink 1 , Asgeir Sigurdsson 1 , Birte Kehr 1 , Julius Gudmundsson 1 , Patrick Sulem 1 , Bardur Sigurgeirsson 2 , Kristrun R Benediktsdottir 2 , Kristin Thorisdottir 2 , Rafn Ragnarsson 2 , Victoria Fuentelsaz 3 , Cristina Corredera 4 , Yolanda Gilaberte 5 , Matilde Grasa 6 , Dolores Planelles 7 , Onofre Sanmartin 8 , Peter Rudnai 9 , Eugene Gurzau 10 , Kvetoslava Koppova 11 , Bjørn A Nexø 12 , Anne Tjønneland 13 , Kim Overvad 14 , Jon G Jonasson 15 , Laufey Tryggvadottir 16 , Hrefna Johannsdottir 1 , Anna M Kristinsdottir 1 , Hreinn Stefansson 1 , Gisli Masson 1 , Olafur T Magnusson 1 , Bjarni V Halldorsson 17 , Augustine Kong 1 , Thorunn Rafnar 1 , Unnur Thorsteinsdottir 18 , Ulla Vogel 19 , Rajiv Kumar 20 , Eduardo Nagore 8 , José I Mayordomo 21 , Daniel F Gudbjartsson 1 , Jon H Olafsson 2 , Kari Stefansson 18
+ et al

[No authors listed]

Author information
  • 1 deCODE Genetics/AMGEN, Sturlugata 8, Reykjavik 101, Iceland.
  • 2 1] Landspitali-University Hospital, Reykjavik 101, Iceland [2] Faculty of Medicine, University of Iceland, Reykjavik 101, Iceland.
  • 3 Division of Dermatology, Gregorio Marañón Hospital, Madrid 28007, Spain.
  • 4 Division of Dermatology, Quiron Hospital, 50009 Zaragoza, Spain.
  • 5 Division of Dermatology, San Jorge General Hospital, Huesca 22004, Spain.
  • 6 Division of Dermatology, University Hospital, Zaragoza 50009, Spain.
  • 7 Laboratory of Histocompatibility-Molecular Biology, Centro de Transfusión de la Comunidad Valenciana, Avenida del Cid, 65-A, Valencia 46014, Spain.
  • 8 1] Department of Oncology, Instituto Valenciano de Oncologia, Valencia 46009, Spain [2] Universidad Católica de Valencia, Valencia 46003, Spain.
  • 9 Department of Environmental Epidemiology, National Institute of Environmental Health, Budapest H-1450, Hungary.
  • 10 Health Department, Environmental Health Centre, Babes Bolyai University, Cluj, RO-Cluj-Napoca, Romania.
  • 11 Department of Environmental Health, Regional Authority of Public Health, Banska Bystrica SK-975 56, Slovakia.
  • 12 Department of Biomedicine, University of Aarhus, Aarhus C DK-8000, Denmark.
  • 13 Danish Cancer Society Research Centre, DK-2100 Copenhagen Ø, Denmark.
  • 14 Department of Public Health, Institute of Epidemiology and Social Medicine, University of Aarhus, Aarhus C DK-8000, Denmark.
  • 15 1] Landspitali-University Hospital, Reykjavik 101, Iceland [2] Faculty of Medicine, University of Iceland, Reykjavik 101, Iceland [3] Icelandic Cancer Registry, Skogarhlid 8, Reykjavik 105, Iceland.
  • 16 1] Faculty of Medicine, University of Iceland, Reykjavik 101, Iceland [2] Icelandic Cancer Registry, Skogarhlid 8, Reykjavik 105, Iceland.
  • 17 1] deCODE Genetics/AMGEN, Sturlugata 8, Reykjavik 101, Iceland [2] Institute of Biomedical and Neural Engineering, School of Science and Engineering, Reykjavik University, Reykjavik 101, Iceland.
  • 18 1] deCODE Genetics/AMGEN, Sturlugata 8, Reykjavik 101, Iceland [2] Faculty of Medicine, University of Iceland, Reykjavik 101, Iceland.
  • 19 National Research Centre for the Working Environment, Copenhagen DK-2100, Denmark.
  • 20 Division of Molecular Genetic Epidemiology, German Cancer Research Centre, Heidelberg D-69120, Germany.
  • 21 Division of Medical Oncology, University of Colorado, Aurora, Colorado 80045, USA.
全文

摘要

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.

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