Table 2.
Associations of single-nucleotide polymorphisms (SNPs) and antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis (GPA+ MPA), According to Cohort.
Combined cohort (N = 2267 case patients, 6858 controls) |
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Gene | Chromosome | SNP (Minor Allele) | Nucleotide change | OR | P-value |
SNPs WITH GENOME-WIDE SIGNIFICANCE IN COMBINED COHORT | |||||
HLA-DP | 6 | rs3117242 | A > G | 3.67 | 1.5 × 10−71 |
HLA-DQ | 6 | rs5000634 | A > G | 0.80 | 2.9 × 10−9 |
COL11A2 | 6 | rs3130233 | A > G | 1.51 | 7.8 × 10−15 |
COL11A2 | 6 | rs3117016 | A > G | 1.83 | 6.4 × 10−24 |
SERPINA1 | 14 | rs7151526 | A > C | 0.59 | 2.4 × 10−9 |
Clinical syndrome |
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GPA vs. control (N = 1683 vs. 6858) |
MPA vs. control (N = 489 vs. 6858) |
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Gene | Chromosome | SNP | Nucleotide change | OR | P-value |
ASSOCIATIONS OF SNPs AND ANCA – ASSOCIATED VASCULITIS, ACCORDING TO CLINICAL AND ANCA SUBGROUPS | |||||
HLA-DP | 6 | rs3117242 | A > G | 5.39 | 3.1 × 10−85 |
HLA-DQ | 6 | rs5000634 | A > G | 0.83 | 2.2 × 10−6 |
ARHGAP18 | 6 | rs1705767 | A > C | 0.78 | 3.3 × 10−7 |
SERPINA1 | 14 | rs7151526 | A > C | 0.54 | 4.4 × 10−10 |
PRTN3 | 19 | rs62132295 | A > G | 0.78 | 2.6 × 10−5 |
MOSPD2 | X | rs6628825 | A > G | 0.80 | 2.6 × 10−6 |
ANCA specificity |
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---|---|---|---|---|---|---|---|
Proteinase 3 vs. control (N = 1521 vs. 6858) | Myeloperoxidase vs. control (N = 556 vs. 6858) | ||||||
Gene | Chromosome | SNP | Nucleotide change | OR | P-value | OR | P-value |
HLA-DP | 6 | rs3117242 | A > G | 7.03 | 6.2 × 10−89 | 1.55 | 3.2 × 10−2 |
HLA-DQ | 6 | rs5000634 | A > G | 0.86 | 3.3 × 10−5 | 0.65 | 2.1 × 10−8 |
ARHGAP18 | 6 | rs1705767 | A > C | 0.73 | 5.2 × 10−8 | 0.87 | 1.0 × 10−2 |
SERPINA1 | 14 | rs7151526 | A > C | 0.53 | 5.6 × 10−12 | 0.84 | 2.8 × 10−1 |
PRTN3 | 19 | rs62132295 | A > G | 0.73 | 2.6 × 10−7 | 1.10 | 2.2 × 10−1 |
MOSPD2 | X | rs6628825 | A > G | 0.77 | 6.1 × 10−7 | 0.86 | 6.3 × 10−1 |
GPA, granulomatosis with poliangiitis, MPA, microscopic poliangiitis, EGPA, eosinophilic granulomatosis with poliangiitis.