re-sequenced European-Americans, re-sequencing by Haller et al (2012) included 400 European-Americans and 352 African-Americans; half of each sequenced population being nicotine dependent cases or smoking controls. Here, we re-sequenced the coding regions of the CHRNA5 gene (GenBank: NM_000745.3) in an independent population of 250 African-American heavy smokers (defined as people who smoked 20 or more cigarettes per day). In most cases, rare variants (MAF<1%) in CHRNA5 are unlikely to explain the heavy smoking phenotype. Nonetheless, we identified a rare frame-shift variant that might result in nonsense mediated decay (NMD) of the aberrant transcript.
