Nat Genet. 2012 Jul 15;44(8):900-3. doi: 10.1038/ng.2353.
A genome-wide association study identifies two new susceptibility loci for lung adenocarcinoma in the Japanese population.
Lung adenocarcinoma is the most common histological type of lung cancer, and its incidence is increasing worldwide. To identify genetic factors influencing risk of lung adenocarcinoma, we conducted a genome-wide association study and two validation studies in the Japanese population comprising a total of 6,029 individuals with lung adenocarcinoma (cases) and 13,535 controls. We confirmed two previously reported risk loci, 5p15.33 (rs2853677, P(combined) = 2.8 × 10(-40), odds ratio (OR) = 1.41) and 3q28 (rs10937405, P(combined) = 6.9 × 10(-17), OR = 1.25), and identified two new susceptibility loci, 17q24.3 (rs7216064, P(combined) = 7.4 × 10(-11), OR = 1.20) and 6p21.3 (rs3817963, P(combined) = 2.7 × 10(-10), OR = 1.18). These data provide further evidence supporting a role for genetic susceptibility in the development of lung adenocarcinoma.
Genome-wide association studyの結果、17q24,3, 6q21,3上の2領域を新規の肺腺がん感受性領域として同定した。同領域に存在するBPTF遺伝子の発現量が遺伝子多型と関連することを見出した。