Fig. 2: ATM rs56009889 association with lung cancer risk.
From: Protein-altering germline mutations implicate novel genes related to lung cancer development
P values were determined by logistic regression analysis adjusted by age, gender, smoking status and the principal components. a Stratified analyses of the association between rs56009889 and Lung cancer. Compared to non-carriers, L2307F carriers had an increased risk of lung cancer with ORs being 4.19 in the discovery data (P = 3.56 × 10−7, n = 28872) and 1.31 in the replication data (P = 0.45, n = 10256). In females, L2307F carriers had a lung cancer risk with ORs being 7.76 in the discovery data (P = 0.0002, n = 10919) and 3.22 in the replication data (P = 0.03, n = 4698). L2307F carriers had a significant 5.2-fold increased risk for lung adenocarcinoma (LAD) in the discovery data (P = 6.47 × 10−9, n = 19356) and a 2.5-fold increased risk in the replication data (P = 0.01, n = 7503). No associations of L2307F with the risk of lung squamous cell carcinoma (LSQ) (n = 16853) or small cell lung cancer (SCLC) (n = 14746) were observed in the discovery data. No L2307F variants were observed in LSQ or SCLC in the replication data. Colors indicate demographic and histological stratifications of the data. b Stratified analyses of the association between rs56009889 and LAD. Females who carried L2307F had a >8-fold greater risk of LAD in the discovery dataset (P = 0.0001, n = 8056) and a 4.7-fold risk of LAD in the replication data (P = 0.004, n = 3680). Never smoking females who harbored L2307F had a 7-fold greater risk of LAD in the discovery data (P = 0.01, n = 2817) and a 3.8-fold risk of LAD in the replication data (P = 0.15, n = 1212). c Distribution of L2307F homozygotes. All the homozygotes of L2307F in the discovery data, no matter what age, gender, and smoking status, developed LAD in the discovery data. No homozygotes were found in the replication data. d Higher ORs of association between rs56009889 and the risk of lung cancer, of LAD in overall and in females were found in Israeli (n = 1173) than in North Americas (n = 10858). All of the associations have reached significant. The upper 95% CI of the LAD risk in female in Israel (adjusted OR = 17.15; 95% CI 2.24–131.32, n = 373) was not shown because it was too high. Colors indicate stratifications of the data by histology and sex. The error bars are OR ± the 95% CI values. Source data are provided as a Source Data file.
