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New basal cell carcinoma susceptibility loci.
Stacey, Simon N; Helgason, Hannes; Gudjonsson, Sigurjon A; Thorleifsson, Gudmar; Zink, Florian; Sigurdsson, Asgeir; Kehr, Birte; Gudmundsson, Julius; Sulem, Patrick; Sigurgeirsson, Bardur; Benediktsdottir, Kristrun R; Thorisdottir, Kristin; Ragnarsson, Rafn; Fuentelsaz, Victoria; Corredera, Cristina; Gilaberte, Yolanda; Grasa, Matilde; Planelles, Dolores; Sanmartin, Onofre; Rudnai, Peter; Gurzau, Eugene; Koppova, Kvetoslava; Nexø, Bjørn A; Tjønneland, Anne; Overvad, Kim; Jonasson, Jon G; Tryggvadottir, Laufey; Johannsdottir, Hrefna; Kristinsdottir, Anna M; Stefansson, Hreinn; Masson, Gisli; Magnusson, Olafur T; Halldorsson, Bjarni V; Kong, Augustine; Rafnar, Thorunn; Thorsteinsdottir, Unnur; Vogel, Ulla; Kumar, Rajiv; Nagore, Eduardo; Mayordomo, José I; Gudbjartsson, Daniel F; Olafsson, Jon H; Stefansson, Kari.
Afiliación
  • Stacey SN; deCODE Genetics/AMGEN, Sturlugata 8, Reykjavik 101, Iceland.
  • Helgason H; deCODE Genetics/AMGEN, Sturlugata 8, Reykjavik 101, Iceland.
  • Gudjonsson SA; deCODE Genetics/AMGEN, Sturlugata 8, Reykjavik 101, Iceland.
  • Thorleifsson G; deCODE Genetics/AMGEN, Sturlugata 8, Reykjavik 101, Iceland.
  • Zink F; deCODE Genetics/AMGEN, Sturlugata 8, Reykjavik 101, Iceland.
  • Sigurdsson A; deCODE Genetics/AMGEN, Sturlugata 8, Reykjavik 101, Iceland.
  • Kehr B; deCODE Genetics/AMGEN, Sturlugata 8, Reykjavik 101, Iceland.
  • Gudmundsson J; deCODE Genetics/AMGEN, Sturlugata 8, Reykjavik 101, Iceland.
  • Sulem P; deCODE Genetics/AMGEN, Sturlugata 8, Reykjavik 101, Iceland.
  • Sigurgeirsson B; 1] Landspitali-University Hospital, Reykjavik 101, Iceland [2] Faculty of Medicine, University of Iceland, Reykjavik 101, Iceland.
  • Benediktsdottir KR; 1] Landspitali-University Hospital, Reykjavik 101, Iceland [2] Faculty of Medicine, University of Iceland, Reykjavik 101, Iceland.
  • Thorisdottir K; 1] Landspitali-University Hospital, Reykjavik 101, Iceland [2] Faculty of Medicine, University of Iceland, Reykjavik 101, Iceland.
  • Ragnarsson R; 1] Landspitali-University Hospital, Reykjavik 101, Iceland [2] Faculty of Medicine, University of Iceland, Reykjavik 101, Iceland.
  • Fuentelsaz V; Division of Dermatology, Gregorio Marañón Hospital, Madrid 28007, Spain.
  • Corredera C; Division of Dermatology, Quiron Hospital, 50009 Zaragoza, Spain.
  • Gilaberte Y; Division of Dermatology, San Jorge General Hospital, Huesca 22004, Spain.
  • Grasa M; Division of Dermatology, University Hospital, Zaragoza 50009, Spain.
  • Planelles D; Laboratory of Histocompatibility-Molecular Biology, Centro de Transfusión de la Comunidad Valenciana, Avenida del Cid, 65-A, Valencia 46014, Spain.
  • Sanmartin O; 1] Department of Oncology, Instituto Valenciano de Oncologia, Valencia 46009, Spain [2] Universidad Católica de Valencia, Valencia 46003, Spain.
  • Rudnai P; Department of Environmental Epidemiology, National Institute of Environmental Health, Budapest H-1450, Hungary.
  • Gurzau E; Health Department, Environmental Health Centre, Babes Bolyai University, Cluj, RO-Cluj-Napoca, Romania.
  • Koppova K; Department of Environmental Health, Regional Authority of Public Health, Banska Bystrica SK-975 56, Slovakia.
  • Nexø BA; Department of Biomedicine, University of Aarhus, Aarhus C DK-8000, Denmark.
  • Tjønneland A; Danish Cancer Society Research Centre, DK-2100 Copenhagen Ø, Denmark.
  • Overvad K; Department of Public Health, Institute of Epidemiology and Social Medicine, University of Aarhus, Aarhus C DK-8000, Denmark.
  • Jonasson JG; 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.
  • Tryggvadottir L; 1] Faculty of Medicine, University of Iceland, Reykjavik 101, Iceland [2] Icelandic Cancer Registry, Skogarhlid 8, Reykjavik 105, Iceland.
  • Johannsdottir H; deCODE Genetics/AMGEN, Sturlugata 8, Reykjavik 101, Iceland.
  • Kristinsdottir AM; deCODE Genetics/AMGEN, Sturlugata 8, Reykjavik 101, Iceland.
  • Stefansson H; deCODE Genetics/AMGEN, Sturlugata 8, Reykjavik 101, Iceland.
  • Masson G; deCODE Genetics/AMGEN, Sturlugata 8, Reykjavik 101, Iceland.
  • Magnusson OT; deCODE Genetics/AMGEN, Sturlugata 8, Reykjavik 101, Iceland.
  • Halldorsson BV; 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.
  • Kong A; deCODE Genetics/AMGEN, Sturlugata 8, Reykjavik 101, Iceland.
  • Rafnar T; deCODE Genetics/AMGEN, Sturlugata 8, Reykjavik 101, Iceland.
  • Thorsteinsdottir U; 1] deCODE Genetics/AMGEN, Sturlugata 8, Reykjavik 101, Iceland [2] Faculty of Medicine, University of Iceland, Reykjavik 101, Iceland.
  • Vogel U; National Research Centre for the Working Environment, Copenhagen DK-2100, Denmark.
  • Kumar R; Division of Molecular Genetic Epidemiology, German Cancer Research Centre, Heidelberg D-69120, Germany.
  • Nagore E; 1] Department of Oncology, Instituto Valenciano de Oncologia, Valencia 46009, Spain [2] Universidad Católica de Valencia, Valencia 46003, Spain.
  • Mayordomo JI; Division of Medical Oncology, University of Colorado, Aurora, Colorado 80045, USA.
  • Gudbjartsson DF; deCODE Genetics/AMGEN, Sturlugata 8, Reykjavik 101, Iceland.
  • Olafsson JH; 1] Landspitali-University Hospital, Reykjavik 101, Iceland [2] Faculty of Medicine, University of Iceland, Reykjavik 101, Iceland.
  • Stefansson K; 1] deCODE Genetics/AMGEN, Sturlugata 8, Reykjavik 101, Iceland [2] Faculty of Medicine, University of Iceland, Reykjavik 101, Iceland.
Nat Commun ; 6: 6825, 2015 Apr 09.
Article en En | MEDLINE | ID: mdl-25855136
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.
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Neoplasias Cutáneas / Factores de Transcripción / Proteínas Nucleares / Carcinoma Basocelular / Proteínas / Proteínas Oncogénicas / Proteínas de Homeodominio / Factor de Transcripción GATA3 / Caspasa 8 Tipo de estudio: Observational_studies / Risk_factors_studies Límite: Adolescent / Adult / Aged / Aged80 / Child / Female / Humans / Male / Middle aged País/Región como asunto: Europa Idioma: En Revista: Nat Commun Asunto de la revista: BIOLOGIA / CIENCIA Año: 2015 Tipo del documento: Article País de afiliación: Islandia
Texto completo
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Neoplasias Cutáneas / Factores de Transcripción / Proteínas Nucleares / Carcinoma Basocelular / Proteínas / Proteínas Oncogénicas / Proteínas de Homeodominio / Factor de Transcripción GATA3 / Caspasa 8 Tipo de estudio: Observational_studies / Risk_factors_studies Límite: Adolescent / Adult / Aged / Aged80 / Child / Female / Humans / Male / Middle aged País/Región como asunto: Europa Idioma: En Revista: Nat Commun Asunto de la revista: BIOLOGIA / CIENCIA Año: 2015 Tipo del documento: Article País de afiliación: Islandia