Functional characterization improves associations between rare non-synonymous variants in CHRNB4 and smoking behavior.

We find that there is a highly significant correlation between carrier status weighted by either acetylcholine EC 50 (β = −0.67, r 2 = 0.017, P = 2×10 −4 ) or by response to low nicotine (β = −0.29, r 2 = 0.02, P = 6×10 −5 ) when variants are expressed with the α3 subunit.

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