Lung cancer susceptibility locus at 5p15.33

James D McKay, Rayjean J Hung, Valerie Gaborieau, Paolo Boffetta, Amelie Chabrier, Graham Byrnes, David Zaridze, Anush Mukeria, Neonilia Szeszenia-Dabrowska, Jolanta Lissowska, Peter Rudnai, Eleonora Fabianova, Dana Mates, Vladimir Bencko, Lenka Foretova, Vladimir Janout, John McLaughlin, Frances Shepherd, Alexandre Montpetit, Steven NarodHans E Krokan, Frank Skorpen, Maiken Bratt Elvestad, Lars Vatten, Inger Njølstad, Tomas Axelsson, Chu Chen, Gary Goodman, Matt Barnett, Melissa M Loomis, Jan Lubiñski, Joanna Matyjasik, Marcin Lener, Dorota Oszutowska, John Field, Triantafillos Liloglou, George Xinarianos, Adrian Cassidy, Paolo Vineis, Francoise Clavel-Chapelon, Domenico Palli, Rosario Tumino, Vittorio Krogh, Salvatore Panico, Carlos A González, José Ramón Quirós, Carmen Martínez, Carmen Navarro, Eva Ardanaz, Nerea Larrañaga, Epic Study

Research output: Contribution to journalArticle (journal)peer-review

478 Citations (Scopus)


We carried out a genome-wide association study of lung cancer (3,259 cases and 4,159 controls), followed by replication in 2,899 cases and 5,573 controls. Two uncorrelated disease markers at 5p15.33, rs402710 and rs2736100 were detected by the genome-wide data (P = 2 x 10(-7) and P = 4 x 10(-6)) and replicated by the independent study series (P = 7 x 10(-5) and P = 0.016). The susceptibility region contains two genes, TERT and CLPTM1L, suggesting that one or both may have a role in lung cancer etiology.

Original languageEnglish
Pages (from-to)1404-6
Number of pages3
JournalNature Genetics
Issue number12
Publication statusPublished - 31 Dec 2008


  • Apoptosis
  • Case-Control Studies
  • Chromosomes, Human, Pair 5/genetics
  • Genetic Predisposition to Disease
  • Genome-Wide Association Study
  • Humans
  • Lung Neoplasms/genetics
  • Membrane Proteins/genetics
  • Neoplasm Proteins/genetics
  • Principal Component Analysis
  • Smoking
  • Telomerase/genetics


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