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New basal cell carcinoma susceptibility loci

Author

Listed:
  • 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
    Faculty of Medicine, University of Iceland)

  • Kristrun R. Benediktsdottir

    (Landspitali-University Hospital
    Faculty of Medicine, University of Iceland)

  • Kristin Thorisdottir

    (Landspitali-University Hospital
    Faculty of Medicine, University of Iceland)

  • Rafn Ragnarsson

    (Landspitali-University Hospital
    Faculty of Medicine, University of Iceland)

  • 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
    Universidad Católica de Valencia)

  • 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
    Faculty of Medicine, University of Iceland
    Icelandic Cancer Registry, Skogarhlid 8)

  • Laufey Tryggvadottir

    (Faculty of Medicine, University of Iceland
    Icelandic Cancer Registry, Skogarhlid 8)

  • 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
    Institute of Biomedical and Neural Engineering, School of Science and Engineering, Reykjavik University)

  • Augustine Kong

    (deCODE Genetics/AMGEN, Sturlugata 8)

  • Thorunn Rafnar

    (deCODE Genetics/AMGEN, Sturlugata 8)

  • Unnur Thorsteinsdottir

    (deCODE Genetics/AMGEN, Sturlugata 8
    Faculty of Medicine, University of Iceland)

  • Ulla Vogel

    (National Research Centre for the Working Environment)

  • Rajiv Kumar

    (German Cancer Research Centre)

  • Eduardo Nagore

    (Instituto Valenciano de Oncologia
    Universidad Católica de Valencia)

  • José I. Mayordomo

    (University of Colorado)

  • Daniel F. Gudbjartsson

    (deCODE Genetics/AMGEN, Sturlugata 8)

  • Jon H. Olafsson

    (Landspitali-University Hospital
    Faculty of Medicine, University of Iceland)

  • Kari Stefansson

    (deCODE Genetics/AMGEN, Sturlugata 8
    Faculty of Medicine, University of Iceland)

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.

Suggested Citation

  • Simon N. Stacey & Hannes Helgason & Sigurjon A. Gudjonsson & Gudmar Thorleifsson & Florian Zink & Asgeir Sigurdsson & Birte Kehr & Julius Gudmundsson & Patrick Sulem & Bardur Sigurgeirsson & Kristrun , 2015. "New basal cell carcinoma susceptibility loci," Nature Communications, Nature, vol. 6(1), pages 1-10, November.
    • Handle: RePEc:nat:natcom:v:6:y:2015:i:1:d:10.1038_ncomms7825
    DOI: 10.1038/ncomms7825
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