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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

   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
  rs4243387 210 (18.8) 10 (0.9) 10.3 0.69 191 (14.1) 14 (1.0) 8.1 0.07
  rs1806649 454 (40.5) 72 (6.4) 26.7 0.27 510 (39.1) 83 (6.4) 25.9 0.55
  rs13001694 530 (47.3) 178 (15.9) 39.6 0.74 647 (48.1) 223 (16.6) 40.6 0.82
  rs2364723 499 (44.6) 105 (9.4) 31.7 0.38 574 (42.8) 156 (11.6) 33.0 0.42
  HaplotypeC 326 (30.4) 41 3.8) 18.9 0.72 402 (32.6) 44 (3.6) 19.1 0.42
  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
  rs11085735 117 (10.4) 5 (0.4) 5.6 0.56 129 (9.6) 2 (0.1) 4.9 0.77
  rs1048287 203 (18.0) 18 (1.6) 10.6 0.14 248 (18.4) 11 (0.8) 10.0 0.51
  HaplotypeA 520 (47.9) 197 (18.1) 57.7 0.64 659 (51.2) 222 (17.3) 57.0 0.13
  HaplotypeB 401 (36.9) 80 (7.4) 26.1 0.27 541 (42.1) 88 (6.8) 28.0 0.14
  1. SNP = Single Nucleotide Polymorphism
  2. HWE = Hardy Weinberg Equilibrium
  3. MAF = Minor Allele Frequency
  4. NFE2L2 = Nuclear Factor (Erythroid-derived 2)-Like 2
  5. KEAP1 = Kelch-like ECH-associated protein-1