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Chunk #32 — Results

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Genome-wide meta-analysis reveals common splice site acceptor variant in CHRNA4 associated with nicotine dependence.
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The top SNP from the overall meta-analysis, rs2273500, was imputed well across our discovery and replication samples, with info values ranging from 0.8 to 1.0 (Supplementary Tables 1 and 5). See the Supplementary Information for an evaluation of the agreement between rs2273500 imputed dosages and directly observed genotypes. rs2273500 is in some linkage disequilibrium with rs4809294, the top GWAS-identified SNP (D′=0.97 and r2=0.37, Supplementary Figure 3). rs4809294 (replication meta-analysis P=0.36) may tag an underlying causal variant with varying linkage disequilibrium across the different populations, and its effect size may have been overestimated in the discovery GWAS meta-analysis.53