New basal cell carcinoma susceptibility loci

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...

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Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Pub. Group 2015
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4403348/
https://www.ncbi.nlm.nih.gov/pubmed/25855136
http://dx.doi.org/10.1038/ncomms7825
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author 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
author_facet 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
author_sort Stacey, Simon N.
collection PubMed
description 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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spelling pubmed-44033482015-04-29 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 Nat Commun Article 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. Nature Pub. Group 2015-04-09 /pmc/articles/PMC4403348/ /pubmed/25855136 http://dx.doi.org/10.1038/ncomms7825 Text en Copyright © 2015, Nature Publishing Group, a division of Macmillan Publishers Limited. All Rights Reserved. http://creativecommons.org/licenses/by/4.0/ This work is licensed under a Creative Commons Attribution 4.0 International License. The images or other third party material in this article are included in the article's Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/
spellingShingle Article
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
New basal cell carcinoma susceptibility loci
title New basal cell carcinoma susceptibility loci
title_full New basal cell carcinoma susceptibility loci
title_fullStr New basal cell carcinoma susceptibility loci
title_full_unstemmed New basal cell carcinoma susceptibility loci
title_short New basal cell carcinoma susceptibility loci
title_sort new basal cell carcinoma susceptibility loci
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4403348/
https://www.ncbi.nlm.nih.gov/pubmed/25855136
http://dx.doi.org/10.1038/ncomms7825
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