Table 2.
Genotypes distribution in patients with COPD (case) and healthy smokers (control)
| SNP | Positiona | Amino substitution | Genotype frequency (%)
|
OR (95% CI)b |
p-value
|
||
|---|---|---|---|---|---|---|---|
| Case | Control | Genotypeb | HWE* | ||||
| rs1432623 | −2,389 | N/A | 0.10 | 0.68 | |||
| CC | 0.13 | 0.08 | 1.00 | ||||
| CT | 0.42 | 0.39 | 1.92 (0.86–4.27) | ||||
| TT | 0.46 | 0.53 | 3.62 (1.11–11.86) | ||||
| rs17108803 | −839 | N/A | 0.83 | 0.99 | |||
| GG | 0.00 | 0.00 | 1.00 | ||||
| GT | 0.11 | 0.13 | 0.00 (0.00-) | ||||
| TT | 0.90 | 0.87 | 0.00 (0.00-) | ||||
| rs12654778 | −654 | N/A | 0.04 | 0.08 | |||
| AA | 0.12 | 0.16 | 1.00 | ||||
| AG | 0.56 | 0.41 | 0.97 (0.36–2.61) | ||||
| GG | 0.33 | 0.43 | 2.40 (0.54–10.63) | ||||
| rs1042713 | +46 | Arg16Gly | 0.15 | 0.61 | |||
| AA | 0.23 | 0.28 | 1.00 | ||||
| GA | 0.62 | 0.48 | 0.65 (0.30–1.42) | ||||
| GG | 0.16 | 0.24 | 1.17 (0.37–3.69) | ||||
| rs1042714 | +79 | Gln27Glu | 0.73 | 0.98 | |||
| GG | 0.02 | 0.01 | 1.00 | ||||
| GC | 0.29 | 0.21 | 1.36 (0.27–6.98) | ||||
| CC | 0.69 | 0.78 | 1.68 (0.32–8.77) | ||||
| rs1042717 | +253 | Leu84Leu | 0.19 | 0.62 | |||
| AA | 0.10 | 0.14 | 1.00 | ||||
| AG | 0.47 | 0.45 | 2.82 (0.91–8.77) | ||||
| GG | 0.44 | 0.41 | 3.82 (0.82–17.86) | ||||
| rs1042719 | +1,055 | Gly351Gly | 0.69 | 0.19 | |||
| CC | 0.18 | 0.25 | 1.00 | ||||
| CG | 0.48 | 0.45 | 0.96 (0.45–2.06) | ||||
| GG | 0.35 | 0.30 | 1.29 (0.49–3.46) | ||||
| rs1042720 | +1,241 | Leu413Leu | 0.13 | 0.07 | |||
| GG | 0.22 | 0.15 | 1.00 | ||||
| GA | 0.46 | 0.40 | 1.55 (0.76–3.19) | ||||
| AA | 0.33 | 0.45 | 2.15 (0.86–5.35) | ||||
Notes:
*
p-value from test for HWE in controls.
a
The position is based on the first nucleotide of the start codon being +1.
b
The OR (95% CI) and genotype p-value have been adjusted for age, sex and smoking history.
Abbreviations: HWE, Hardy–Weinberg equilibrium; OR, odds ratio; SNP, single nucleotide polymorphism; CI, confidence interval.