Table 2

Single nucleotide polymorphisms (SNPs) associated with the lifetime average number of cigarettes smoked per day (CPD) (log2-transformed) with meta-analytic p<10−5, and candidate SNPs from CHRNA3/CHRNA5 and CYP2A6 loci identified by previous studies

Chr.Top SNPNearest gene within 50 kb (location)Effect/non-effect alleleBpI2Q stat.N/NimpFreq.Effect direction consistent with previous studies
Top SNPs4rs13104971SCFD2 (intron)G/A0.1131.18×10−600.924/30.13
9rs943306ASTN2 (intron)T/C0.0731.25×10−6250.264/00.40
7rs10237067A/G0.0722.98×10−600.634/30.63
7rs12699125CALN1 (intron)A/G0.0723.17×10−6420.164/30.66
7rs4718827T/C0.0723.36×10−600.614/40.63
7rs4717631CALN1 (intron)A/G0.0723.60×10−6430.154/40.66
7rs17170849ELMO1 (intron)C/T0.2654.07×10−6440.154/30.02
7rs4577845CALN1 (intron)G/A0.0714.57×10−6440.154/10.66
7rs1859485CALN1 (intron)T/C0.0696.95×10−6400.174/10.65
12rs11044734G/C0.1127.32×10−600.484/40.90
12rs11044737G/A0.1127.70×10−600.474/00.90
16rs190369C/T0.1618.89×10−6470.134/10.05
20rs2869961CEBPB (5′ region)A/G0.1049.65×10−600.594/10.12
Candidate SNPs15rs1051730CHRNA3 (exon, Tyr215Tyr)A/G0.0600.00011370.194/00.41Yes
15rs16969968CHRNA5 (exon, Asp398Asn)A/G0.0590.00015300.234/30.41Yes
15rs8034191AGPHD1 (intron)C/T0.0550.00036400.174/00.41Yes
15rs684513CHRNA5 (intron)C/G0.0290.16300.984/40.80Yes
15rs578776CHRNA3 (3′ UTR)G/A0.0410.02000.944/00.76Yes
15rs588765CHRNA5 (intron)C/T0.0310.046470.134/40.60Yes
19rs3733829EGLN2 (intron)G/A0.0190.22300.484/30.39Yes
19rs7937RAB4B (3′ UTR)T/C0.0220.15300.964/00.60Yes
19rs1801272CYP2A6 (exon, Leu160His)A/T0.2662.78×10−500.724/40.96Yes
19rs4105144CYP2A6 (5′ region)C/T0.0733.92×10−500.444/40.73Yes
19rs7260329CYP2B6 (intron)G/A0.0140.40400.554/10.68Yes
19rs7251570CYP2A6 (3′ region)G/A0.0570.0007300.844/40.71Yes
19rs12461383CYP2A7 (3′ region)G/C0.0630.0001900.614/40.60Yes
  • Analyses were adjusted for sex, age and principal components for genetic ancestry.

  • P values < 0.05 are depicted in bold. N/Nimp, number of studies contributing to the meta-analysis/number of studies in which SNP was imputed; I2, heterogeneity index; Q stat., p value for Q statistic; p, p value from the fixed effect meta-analysis; Freq., effect allele frequency in 3441 patients with at least one non-missing phenotype from four cohorts studied; Chr., chromosome; B, regression coefficient; UTR, untranslated region; CHRNA3/CHRNA5, cholinergic receptors, nicotinic, alpha 3/5; CYP2A6, cytochrome P450, family 2, subfamily A, polypeptide 6.