Table 1. Association of common HLA haplotypes with IgAD.
Sweden/Iceland (430 Cases, 1090 Controls) | Spain (256 Cases, 322 Controls) | Finland (86 Cases, 564 Controls) | |||||||||||||
HLA haplotype | N (%) | Freq Cases | Freq Controls | P value | OR | Freq Cases | Freq Controls | P value | OR | Freq Cases | Freq Controls | P value | OR | Combined P value | Combined OR (95% CI) |
DRB1*0301 | 907 | 0.295 | 0.136 | 2.87×10−21 | 2.54 | 0.205 | 0.120 | 7.37×10−5 | 1.96 | 0.273 | 0.114 | 1.75×10−7 | 2.78 | 1.56×10−34 | 2.49 (2.14–2.90) |
B*0801-DRB1*0301-DQB1*02 | 634 (69.9%) | 0.254 | 0.097 | 9.79×10−24 | 2.96 | 0.106 | 0.026 | 2.26×10−7 | 4.50 | 0.233 | 0.083 | 1.80×10−8 | 3.57 | 3.37×10−43 | 3.33 (2.79–3.97) |
Recombinant DRB1*0301 (non-B*0801) | 273 (30.1%) | 0.042 | 0.039 | 0.712 | 1.08 | 0.100 | 0.093 | 0.708 | 1.08 | 0.041 | 0.03 | 0.455 | 1.38 | 0.424 | 1.10 (0.84–1.44) |
DRB1*0701 | 625 | 0.145 | 0.081 | 1.91×10−7 | 1.93 | 0.277 | 0.165 | 6.76×10−6 | 1.94 | 0.134 | 0.046 | 3.66×10−5 | 2.94 | 8.68×10−17 | 2.03 (1.70–2.41) |
B*1302-DRB1*0701-DQB1*02 | 90 (14.4%) | 0.017 | 0.008 | 0.037 | 2.06 | 0.023 | 0.009 | 0.061 | 2.59 | 0.076 | 0.023 | 3.13×10−4 | 3.69 | 1.36×10−5 | 2.63 (1.69–4.09) |
Recombinant DRB1*0701-DQB1*02 (non-B*1302) | 463 (74.1%) | 0.109 | 0.049 | 3.42×10−9 | 2.44 | 0.229 | 0.132 | 3.57×10−5 | 1.92 | 0.105 | 0.038 | 3.13×10−4 | 2.92 | 6.35×10−17 | 2.23 (1.83–2.72) |
Recombinant DRB1*0701 (non-DQB1*02) | 162 (25.9%) | 0.036 | 0.033 | 0.629 | 1.11 | 0.049 | 0.033 | 0.165 | 1.52 | 0.029 | 0.008 | 0.019 | 3.81 | 0.027 | 1.34 (0.96–1.86) |
DRB1*0102 | 140 | 0.027 | 0.003 | 6.42×10−7 | 8.74 | 0.141 | 0.045 | 3.36×10−8 | 3.69 | 0.023 | 0.004 | 0.013 | 5.45 | 5.86×10−17 | 4.28 (2.92–6.26) |
B*1402-DRB1*0102-DQB1*05 | 93 (66.4%) | 0.023 | 0.002 | 2.72×10−6 | 13.24 | 0.086 | 0.030 | 6.77×10−5 | 3.11 | 0.023 | 0.002 | 2.74×10−3 | 13.71 | 1.24×10−16 | 4.59 (2.89–7.30) |
Recombinant DRB1*0102 (non-B*1402) | 47 (33.6%) | 0.003 | 0.001 | 0.254 | 2.55 | 0.055 | 0.016 | 3.88×10−4 | 3.83 | 0 | 0.003 | 0.498 | N/A | 3.62×10−3 | 3.22 (1.70–6.13) |
DRB1*0101-DQB1*05 | 786 | 0.123 | 0.121 | 0.848 | 1.02 | 0.102 | 0.107 | 0.762 | 0.94 | 0.337 | 0.211 | 4.20×10−4 | 1.86 | 0.038 | 1.17 (0.98–1.39) |
DRB1*1501 | 574 | 0.027 | 0.151 | 9.82×10−17 | 0.16 | 0.008 | 0.107 | 5.08×10−7 | 0.07 | 0.017 | 0.13 | 2.65×10−4 | 0.12 | 2.24×10−35 | 0.13 (0.09–0.19) |
B*0702-DRB1*1501-DQB1*06 | 280 (48.8%) | 0.015 | 0.077 | 5.90×10−9 | 0.18 | 0.002 | 0.034 | 5.65×10−3 | 0.06 | 0 | 0.067 | 4.51×10−4 | N/A | 8.23×10−17 | 0.14 (0.08–0.24) |
Recombinant DRB1*15 (non-B*0702) | 294 (51.2%) | 0.012 | 0.073 | 1.28×10−8 | 0.15 | 0.006 | 0.073 | 1.77×10−5 | 0.08 | 0.017 | 0.063 | 0.021 | 0.25 | 3.70×10−18 | 0.14 (0.09–0.24) |
Shown are the summary statistics describing the association of select haplotypes on the 3 independent European case-control series. Recombinant haplotypes were defined as segments of the respective extended haplotypes and result from the occurrence of a recombination event between the HLA-B and HLA-DRB1 genes. Combined P values and odds ratios were calculated as described in Methods. N, number of haplotypes; Freq, frequency; OR, odds ratio; N/A, not available. Extended haplotypes and individual recombination events are depicted in Figure 2.