cgemslung

The majority of cases of lung cancer are the culmination of a dynamic process that begins with smoking initiation, proceeds through dependency and smoking persistence, continues with lung cancer development and ends with progression to disseminated disease or response to therapy and survival. We are conducting a whole genome study of lung cancer and smoking to identify the role of inherited genetic variants in the critical steps of lung cancer progression. Understanding the basis for the well-established hereditary component of lung cancer and smoking persistence could provide new insights into etiology, prevention, and treatment, and have an enormous impact on public health.

This genome-wide association study (GWAS) seeks to investigate the genetic determinants of lung cancer risk. The study design efficiently allows identification of genes that also contribute to smoking persistence and outcome from lung cancer using a single GWAS of 5,900 subjects using the primary GENEVA dataset, derived from two studies. The first is the Environment and Genetics in Lung Cancer Etiology Study (EAGLE), a population-based, biologically intensive, case-control study from the Lombardy region of Italy including ~2000 newly diagnosed lung cancer cases and ~2000 age-, gender- and region- matched controls. The second is the Prostate, Lung, Colon and Ovary Study (PLCO) Cancer Screening Trial from which we have selected ~850 lung cancer cases and ~850 controls, also matched on age and gender.

Using genotype data we will analyze current smokers and former smokers from EAGLE and PLCO for diverse smoking phenotypes, including persistence of smoking as well as ever/never smoking comparisons, quitting attempts, and the Fagerstrom index of tobacco addiction.

PLCO participants are all European-Americans and EAGLE involves subjects from Italy.
EAGLE is a case-control study and contains 3937 phenotyped subjects.
PLCO is a screening trial with a cohort design and contains 1651 phenotyped subjects.

The genotypes and pre-computed analysis results using the Illumina 550K SNP chip are available on dbGaP behind the CGEMS Data Access Committee. Researchers can apply for access to these data by clicking here.