Table 2 Characteristics of NFE2L2 and KEAP1 genotypes in the Doetinchem cohort and Vlagtwedde-Vlaardingen cohort
From: Level and course of FEV1 in relation to polymorphisms in NFE2L2 and KEAP1 in the general population
| Â | Â | Doetinchem cohort (n = 1,152) | Vlagtwedde-Vlaardingen cohort (n = 1,390) | ||||||
|---|---|---|---|---|---|---|---|---|---|
The total SNP call rate, % | 97.5 | 96.4 | |||||||
The total unique haplotype call rate, % | 93.7 | 90.6 | |||||||
Genotypes distribution, n(%): | Heterozygotes | Homozygotes mutant | MAF | HWE p value | Heterozygotes | Homozygotes mutant | MAF | HWE p value | |
NFE2L2 | rs6726395 | 561 (49.6) | 256 (22.7) | 47.5 | 0.91 | 670 (49.6) | 277 (20.5) | 45.3 | 0.82 |
| Â | rs4243387 | 210 (18.8) | 10 (0.9) | 10.3 | 0.69 | 191 (14.1) | 14 (1.0) | 8.1 | 0.07 |
| Â | rs1806649 | 454 (40.5) | 72 (6.4) | 26.7 | 0.27 | 510 (39.1) | 83 (6.4) | 25.9 | 0.55 |
| Â | rs13001694 | 530 (47.3) | 178 (15.9) | 39.6 | 0.74 | 647 (48.1) | 223 (16.6) | 40.6 | 0.82 |
| Â | rs2364723 | 499 (44.6) | 105 (9.4) | 31.7 | 0.38 | 574 (42.8) | 156 (11.6) | 33.0 | 0.42 |
| Â | HaplotypeC | 326 (30.4) | 41 3.8) | 18.9 | 0.72 | 402 (32.6) | 44 (3.6) | 19.1 | 0.42 |
| Â | HaplotypeD | 237 (22.1) | 13 1.2) | 12.4 | 0.47 | 283 (22.9) | 14 (1.1) | 13.0 | 0.13 |
KEAP1 | rs1048290 | 507 (45.5) | 147 (13.2) | 36.0 | 0.77 | 671 (50.6) | 164 (12.4) | 37.6 | 0.01 |
| Â | rs11085735 | 117 (10.4) | 5 (0.4) | 5.6 | 0.56 | 129 (9.6) | 2 (0.1) | 4.9 | 0.77 |
| Â | rs1048287 | 203 (18.0) | 18 (1.6) | 10.6 | 0.14 | 248 (18.4) | 11 (0.8) | 10.0 | 0.51 |
| Â | HaplotypeA | 520 (47.9) | 197 (18.1) | 57.7 | 0.64 | 659 (51.2) | 222 (17.3) | 57.0 | 0.13 |
| Â | HaplotypeB | 401 (36.9) | 80 (7.4) | 26.1 | 0.27 | 541 (42.1) | 88 (6.8) | 28.0 | 0.14 |