Table 2 CHRNA4 R336Ca confers risk of heavy smoking and smoking-related diseases

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

Phenotype

Eff/OR

P-value

Cases

Controls

   

N chip

N rel

N chip

N rel

FTND score (mild, moderate, severe)

0.85b

1.2 × 10−4

18 592

2706

—

—

CPD in smokers

3.0 CPD

1.8 × 10−4

34 200

6373

—

—

HSI score 4+ vs low-quantity smokersc

4.77

2.1 × 10−5

1713

31

13 948

1.064

LC

2.29

4.0 × 10−4

1437

2572

84 086

137 443

Early-onset LC

4.49

2.2 × 10−4

245

583

85 273

129 010

PAD

1.66

0.090

1926

961

81 992

109 548

Early-onset PAD

3.47

9.2 × 10−3

447

81

70 988

69 570

COPD

1.91

9.3 × 10−4

3857

3639

87 510

207 914

Early-onset COPD

3.22

2.9 × 10−4

1033

437

64 979

73 138

AAAs

1.98

0.12

574

686

83 349

122 962

Early-onset AAA

6.44

6.3 × 10−3

92

112

83 831

123 536

All smoking-related diseases

1.87

6.8 × 10−5

6594

6910

84 776

225 225

All smoking-related diseases early onset

3.48

2.1 × 10−7

1704

1178

83 818

138 837

  1. Abbreviations: AAA, abdominal aortic aneurysm; COPD, chronic obstructive pulmonary disease; CPD, cigarettes smoked per day; FTND, Fagerström Test of Nicotine Dependence; HSI, heavy smoking index; LC, lung cancer; OR, odds ratio; PAD, peripheral artery disease; SNP, single-nucleotide polymorphism.
  2. Table 2 shows the results of association analyses of two quantitative traits, nicotine dependence (FTND score) and smoking quantity (CPD), and case–control comparisons for a number of smoking-related diseases. Shown are, for each of the phenotypes listed, the effect sizes (Eff) for quantitative traits or ORs for case–control comparisons, the P-value and for both cases and controls, the number of subjects included in analysis, chip-typed individuals (N chip) and those with at least one first- or second-degree relative typed (N rel). The inflation factors for the various analyses listed are provided in the Supplementary Material.
  3. aThe SNP encoding R336C (rs56175076) has position 61 452 201 on chromosome 20 according to build 36 (hg18).
  4. bEffect size from analysis multiplied by 3.5, the difference in FTND score between the category midpoints; for information on the FTND analysis see Materials and Methods.
  5. cHSI29 vs smokers smoking 10 CPD or less.
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