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Table 1 Genotype data at rs11594656, rs41295061 and rs2104286 for SLE and AAV

From: Contrasting genetic association of IL2RAwith SLE and ANCA – associated vasculitis

  SLE AAV
  KRUK cases Imperial cases Imperial trios  
rs11594656 T>A     
Genotyped cases 208 441 481 670
TT, TA, AA 148, 52, 8 276, 145, 20   382, 252, 36
Genotyped controls 4401 4449 310 * 8850
TT, TA, AA 2486, 1655, 260 2542, 1640, 267   5028, 3295, 527
MAF in cases 0.16 0.20 - 0.24
P value (1 d.f. test) 1 × 10-4 0.0221 2.8 × 10-3 0.7481
OR for minor allele 0.595 0.82 - 1.02
95% CI for OR 0.4570 – 0.7756 0.6931 – 0.9723 - 0.8972 – 1.163
rs41295061 C>A     
Genotyped cases 208 421 471 675
CC, CA, AA 172, 33, 3 330, 80, 11   569, 102, 4
Genotyped controls 4438 4498 137 * 8936
CC, CA, AA 3603, 790, 45 3603, 832, 63   7206, 1622, 108
MAF in cases 0.09 0.12 - 0.08
P value (1 d.f. test) 0.7187 0.1899 0.2000 0.0122
OR for minor allele 0.94 1.154 - 0.7739
95% CI for OR 0.6710 – 1.317 0.9307 – 1.438 - 0.6330 – 0.9461
rs2104286 A>G     
Genotyped cases 198 436 471 380
AA, AG, GG 113, 74, 11 234, 158, 44   207, 148, 25
Genotyped controls 3475 3529 353 * 7004
AA, AG, GG 1823, 1403, 249 1825, 1452, 252   3648, 2855, 501
MAF in cases 0.24 0.28 - 0.26
P value (1 d.f. test) 0.1760 0.7568 0.558 0.3727
OR for minor allele 1.177 0.9756 - 1.078
95% CI for OR 0.9294 – 1.490 0.8343 – 1.141 - 0.9133 – 1.273
  1. MAF minor allele frequency; OR odds ratio; CI confidence interval; * informative transmissions. Genotype frequencies are shown for the case control cohorts.