Table 1 Association of eight rare missense variants in CHRNA4 with FTND

From: A rare missense mutation in CHRNA4 associates with smoking behavior and its consequences

Variant

P-value

Effect

MAF (%)

Imp Inf

Position

Minor allele

Major allele

Coding effect

chr20:61451525:S

0.37

−0.71

0.017

0.88

61 451 525

A

G

S561L

rs77345643

0.099

0.91

0.038

0.73

61 451 540

A

G

P556L

rs55915440

0.48

0.063

1.378

0.96

61 451 855

A

G

P451L

rs121912272

0.76

−0.042

0.547

0.91

61 451 979

T

C

V410I

rs56175056

1.2 × 10−4

0.85

0.237

0.99

61 452 201

A

G

R336C

chr20:61457796:S

0.15

0.41

0.127

0.96

61 457 796

A

G

R120W

chr20:61457871:S

0.68

0.28

0.05

0.44

61 457 871

G

C

D95H

chr20:61461433:S

0.013

0.61

0.61

0.97

61 461 433

T

C

G47S

  1. Abbreviations: FTND, Fagerström Test of Nicotine Dependence; Imp, imputation; Inf, information; MAF, minor allele frequency.
  2. Table 1 shows association results for non-synonymous variants in CHRNA4 identified by sequencing 2636 Icelanders and imputing their variants into 104,220 Icelanders for the FTND run as a quantitative trait using three categories (FTND 0–3=mild, FTND 4–6=moderate and FTND 7–10=severe). Shown are identity of variant (rs names where available), P-value of association, effect size, minor allele frequency in Iceland (in %), imputation information, position of each variant on chromosome 20 in build 36, identity of minor and major alleles, and the coding effect of the variant. The reported effect size is in FTND units, obtained by multiplying the effect size from analysis with 3.5, the difference between midpoints of adjacent categories.