作者
Simon N Stacey, Patrick Sulem, Aslaug Jonasdottir, Gisli Masson, Julius Gudmundsson, Daniel F Gudbjartsson, Olafur T Magnusson, Sigurjon A Gudjonsson, Bardur Sigurgeirsson, Kristin Thorisdottir, Rafn Ragnarsson, Kristrun R Benediktsdottir, Bjørn A Nexø, Anne Tjønneland, Kim Overvad, Peter Rudnai, Eugene Gurzau, Kvetoslava Koppova, Kari Hemminki, Cristina Corredera, Victoria Fuentelsaz, Pilar Grasa, Sebastian Navarrete, Fernando Fuertes, Maria D García-Prats, Enrique Sanambrosio, Angeles Panadero, Ana De Juan, Almudena Garcia, Fernando Rivera, Dolores Planelles, Virtudes Soriano, Celia Requena, Katja K Aben, Michelle M Van Rossum, Ruben GHM Cremers, Inge M Van Oort, Dick-Johan van Spronsen, Jack A Schalken, Wilbert HM Peters, Brian T Helfand, Jenny L Donovan, Freddie C Hamdy, Daniel Badescu, Ovidiu Codreanu, Mariana Jinga, Irma E Csiki, Vali Constantinescu, Paula Badea, Ioan N Mates, Daniela E Dinu, Adrian Constantin, Dana Mates, Sjofn Kristjansdottir, Bjarni A Agnarsson, Eirikur Jonsson, Rosa B Barkardottir, Gudmundur V Einarsson, Fridbjorn Sigurdsson, Pall H Moller, Tryggvi Stefansson, Trausti Valdimarsson, Oskar T Johannsson, Helgi Sigurdsson, Thorvaldur Jonsson, Jon G Jonasson, Laufey Tryggvadottir, Terri Rice, Helen M Hansen, Yuanyuan Xiao, Daniel H Lachance, Brian Patrick O′ Neill, Matthew L Kosel, Paul A Decker, Gudmar Thorleifsson, Hrefna Johannsdottir, Hafdis T Helgadottir, Asgeir Sigurdsson, Valgerdur Steinthorsdottir, Annika Lindblom, Swedish Low-risk Colorectal Cancer Study Group, Robert S Sandler, Temitope O Keku, Karina Banasik, Torben Jørgensen, Daniel R Witte, Torben Hansen, Oluf Pedersen, Viorel Jinga, David E Neal, William J Catalona, Margaret Wrensch, John Wiencke, Robert B Jenkins, Eduardo Nagore, Ulla Vogel, Lambertus A Kiemeney, Rajiv Kumar, José I Mayordomo, Jon H Olafsson, Augustine Kong, Unnur Thorsteinsdottir, Thorunn Rafnar, Kari Stefansson
发表日期
2011/11
期刊
Nature genetics
卷号
43
期号
11
页码范围
1098-1103
出版商
Nature Publishing Group US
简介
To identify new risk variants for cutaneous basal cell carcinoma, we performed a genome-wide association study of 16 million SNPs identified through whole-genome sequencing of 457 Icelanders. We imputed genotypes for 41,675 Illumina SNP chip-typed Icelanders and their relatives. In the discovery phase, the strongest signal came from rs78378222[C] (odds ratio (OR) = 2.36, P = 5.2 × 10−17), which has a frequency of 0.0192 in the Icelandic population. We then confirmed this association in non-Icelandic samples (OR = 1.75, P = 0.0060; overall OR = 2.16, P = 2.2 × 10−20). rs78378222 is in the 3′ untranslated region of TP53 and changes the AATAAA polyadenylation signal to AATACA, resulting in impaired 3′-end processing of TP53 mRNA. Investigation of other tumor types identified associations of this SNP with prostate cancer (OR = 1.44, P = 2.4 × 10−6), glioma (OR = 2.35, P = 1.0 × 10−5) and colorectal …
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SN Stacey, P Sulem, A Jonasdottir, G Masson… - Nature genetics, 2011