Lung cancer susceptibility locus at 5p15.33.

Publication Type:

Journal Article


Nature genetics, Volume 40, Issue 12, p.1404-6 (2008)


2008, APOPTOSIS, Case-Control Studies, Chromosomes, Human, Pair 5, Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Lung Neoplasms, Membrane Proteins, Neoplasm Proteins, Principal Component Analysis, Public Health Sciences Division, Smoking, TELOMERASE


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.