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We followed up novel variants in 7469 ever smokers from five independent European-ancestry samples. We identified genome-wide significant association in the alpha-4 nicotinic receptor subunit (<jats:italic>CHRNA4)<\/jats:italic>gene on chromosome 20q13: lowest<jats:italic>P<\/jats:italic>=8.0 \u00d7 10<jats:sup>\u22129<\/jats:sup>across all the samples for rs2273500-C (frequency=0.15; odds ratio=1.12 and 95% confidence interval=1.08\u20131.17 for severe vs mild dependence). rs2273500-C, a splice site acceptor variant resulting in an alternate<jats:italic>CHRNA4<\/jats:italic>transcript predicted to be targeted for nonsense-mediated decay, was associated with decreased<jats:italic>CHRNA4<\/jats:italic>expression in physiologically normal human brains (lowest<jats:italic>P<\/jats:italic>=7.3 \u00d7 10<jats:sup>\u22124<\/jats:sup>). Importantly, rs2273500-C was associated with increased lung cancer risk (<jats:italic>N<\/jats:italic>=28\u2009998, odds ratio=1.06 and 95% confidence interval=1.00\u20131.12), likely through its effect on smoking, as rs2273500-C was no longer associated with lung cancer after adjustment for smoking. Using criteria for smoking behavior that encompass more than the single \u2018cigarettes per day\u2019 item, we identified a common<jats:italic>CHRNA4<\/jats:italic>variant with important regulatory properties that contributes to nicotine dependence and smoking-related consequences.<\/jats:p>","DOI":"10.1038\/tp.2015.149","type":"journal-article","created":{"date-parts":[[2015,10,6]],"date-time":"2015-10-06T13:43:21Z","timestamp":1444139001000},"page":"e651-e651","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":81,"title":["Genome-wide meta-analysis reveals common splice site acceptor variant in CHRNA4 associated with nicotine dependence"],"prefix":"10.1038","volume":"5","author":[{"given":"D B","family":"Hancock","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G 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GWR, SS, FZ, SNS, DFG, TET, and KS are employees of deCODE Genetics\/Amgen. Although unrelated to this research, HRK has been a consultant or advisory board member for Alkermes, Lilly, Lundbeck, Otsuka and Pfizer and is a member of the American Society of Clinical Psychopharmacology\u2019s Alcohol Clinical Trials Initiative, supported by AbbVie, Ethypharm, Lilly, Lundbeck and Pfizer. JK consulted for Pfizer from 2012 to 2014 on nicotine dependence. The remaining authors declare no conflict of interest.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}]}}