New basal cell carcinoma susceptibility loci

Simon Stacey(deCODE Genetics (Iceland)), Hannes Helgason(deCODE Genetics (Iceland)), Sigurjón A. Guðjónsson(deCODE Genetics (Iceland)), Guðmar Þorleifsson(deCODE Genetics (Iceland)), Florian Zink(deCODE Genetics (Iceland)), Ásgeir Sigurðsson(deCODE Genetics (Iceland)), Birte Kehr(deCODE Genetics (Iceland)), Jūlı́us Guðmundsson(deCODE Genetics (Iceland)), Patrick Sulem(deCODE Genetics (Iceland)), Bárður Sigurgeirsson(Reykjavík University), Kristrún R. Benediktsdóttir(Reykjavík University), Kristin Thorisdottir(Reykjavík University), Rafn Ragnarsson(Reykjavík University), Victoria Fuentelsaz(Hospital General Universitario Gregorio Marañón), Cristina Corredera(Hospital Quirónsalud Barcelona), Yolanda Gilaberte(Hospital General San Jorge), Matilde Grasa(Universidad de Zaragoza), Dolores Planelles, Onofre Sanmartín(Valencia Catholic University Saint Vincent Martyr), Péter Rudnai(Orszagos Kornyezetegeszsegugyi Intezet), Eugen Gurzău(Babeș-Bolyai University), Kvetoslava Koppová(Public Health Authority of the Slovak Republic), Bjørn A. Nexø(Aarhus University), Anne Tjønneland(Danish Cancer Society), Kim Overvad(Aarhus University), Jón G. Jónasson(Reykjavík University), Laufey Tryggvadóttír(University of Iceland), Hrefna Johannsdottir(deCODE Genetics (Iceland)), Anna M. Kristinsdottir(deCODE Genetics (Iceland)), Hreinn Stefánsson(deCODE Genetics (Iceland)), Gísli Másson(deCODE Genetics (Iceland)), Ólafur Þ. Magnússon(deCODE Genetics (Iceland)), Bjarni V. Halldórsson(Reykjavík University), Augustine Kong(deCODE Genetics (Iceland)), Þórunn Rafnar(deCODE Genetics (Iceland)), Unnur Þorsteinsdóttir(deCODE Genetics (Iceland)), Ulla Vogel(National Research Centre for the Working Environment), Rajiv Kumar(German Cancer Research Center), Eduardo Nagore(Valencia Catholic University Saint Vincent Martyr), José Mayordomo(University of Colorado Cancer Center), Daníel F. Guðbjartsson(deCODE Genetics (Iceland)), Jón Ólafsson(Reykjavík University), Kāri Stefánsson(deCODE Genetics (Iceland))
Nature Communications
April 9, 2015
10.1038/ncomms7825
Cited by 76Open Access
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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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