While many genome-wide and candidate gene studies have identified common and rare single nucleotide polymorphism (SNP) markers associated with quantitative measures of smoking behaviors [10–12], to our knowledge none have focused on the association between copy number variants (CNVs) and quantitative measures of smoking behaviors or nicotine dependence. This study focuses on testing for association between polymorphic CNVs and different phenotypes reflecting smoking behavior in a sample of adult smokers drawn from the COPDGene study, a large study of current and former smokers including both non-Hispanic White (NHW) and African American (AA) adults (aged 45 or over) with at least 10 pack-years exposure to cigarette smoking. Structural variants (including CNVs such as deletions and amplifications of segments of DNA) can be estimated from the genome-wide SNP marker panels used for GWAS, but individuals can have a wide variety of CNVs, differing in both size and location. Polymorphic CNVs, which are deletions/amplifications that are common in a population (above 1% frequency), can be used in tests of association, just like SNPs. We hypothesized that CNVs could be significantly associated with smoking-related
