A Genome-wide Association Study of Lung Cancer Identifies a Region of Chromosome 5p15 Associated with Risk for Adenocarcinoma.

摘要: Three genetic loci for lung cancer risk have been identified by genome-wide association studies (GWAS), but inherited susceptibility to specific histologic types of is not well established. We conducted a GWAS and its major types, genotyping 515,922 single-nucleotide polymorphisms (SNPs) in 5739 cases 5848 controls from one population-based case-control study three cohort studies. Results were combined with summary data ten additional studies, total 13,300 19,666 European descent. Four also provided histology replication, resulting 3333 adenocarcinomas (AD), 2589 squamous cell carcinomas (SQ), 1418 small (SC). In analyses histology, rs2736100 (TERT), on chromosome 5p15.33, was associated adenocarcinoma (odds ratio [OR] = 1.23, 95% confidence interval [CI] 1.13–1.33, p 3.02 × 10−7), other (OR 1.01, 0.84 OR 1.00, 0.93 SQ SC, respectively). This finding confirmed each replication overall meta-analysis 1.24, CI 1.17–1.31, 3.74 10−14 AD; 0.99, 0.69 0.97, 0.48 Other previously reported signals 15q25 6p21 refined, no reached significance. conclusion, distinct hereditary contribution adenocarcinoma.