From a public health perspective, these newly identified low frequency and rare CHRNA5 coding variants will likely have important prognostic and therapeutic implications. The common CHRNA5 coding variant (rs16969968) is a strong genetic risk factor for lung cancer and chronic obstructive pulmonary disease2,7,8,10 and also influences response to smoking cessation therapies.6 Though these low frequency and rare variants will have a smaller impact on a population based level, from an individual viewpoint, the presence of these risk variants has a strong effect on the development of nicotine dependence. An important next step is to test whether these low frequency and rare CHRNA5 coding variants similarly increase the risk of smoking-related diseases such as lung cancer.
