ADA | Variant | Chr. | Pos. (bp) | MA | MAF (KI) | MAF (TUM) | OR/β (Disc.) | p (Disc.) | OR/β (Repl.) | p(one-sided) (Repl.) | OR/β (Pool.) | p (Pool.) |
|---|
nADA pres. | rs28366299 | 6 | 32,560,870 | A | 0.20 | 0.19 | 3.11OR | 2.1 × 10−12 | 5.84OR | 5.2 × 10−09 | 3.56OR | 6.6 × 10−19 |
nADA titer | rs28366299 | 6 | 32,560,870 | A | 0.20 | 0.19 | 0.40β | 1.8 × 10−16 | 0.52β | 1.1 × 10−09 | 0.43β | 5.3 × 10−24 |
nADA titer | rs9272775 | 6 | 32,610,257 | C | 0.22 | 0.23 | 0.38β | 2.5 × 10−16 | 0.51β | 3.2 × 10−10 | 0.41β | 2.5 × 10−24 |
bADA level | rs78279385 | 6 | 32,451,758 | A | 0.23 | 0.25 | 0.39β | 2.7 × 10−14 | 0.39β | 2.0 × 10−06 | 0.39β | 5.5 × 10−19 |
bADA level | rs9272775 | 6 | 32,610,257 | C | 0.22 | 0.23 | 0.39β | 1.0 × 10−13 | 0.46β | 1.1 × 10−07 | 0.41β | 1.6 × 10−19 |
- The top GWAS association signals that showed genome-wide significance in the discovery-stage analysis (α = 5 × 10−8) and replicated (α = 3 × 10−3) in the analysis of IFNβ-1b s.c.-treated patients. For nADA presence, odds ratios are provided (marked by OR), and for quantitative ADA measures effect sizes (marked by β). For detailed association statistics, including conditional analyses, correlated HLA alleles, nearby genes, eQTL results, permutation p values, and preparation-specific association results, see Additional file 12. For locus-specific Manhattan plots of each locus, see Additional file 20. For forest plots of each association, including treatment preparation-specific effects, see Additional file 21. Abbreviations: Chr. chromosome; Pos. position in base pairs (build hg19); MA minor and effect allele; MAF minor allele frequency; KI Karolinska Institutet, Sweden; TUM Technical University of Munich, Germany; OR odds ratio; β effect size; Disc discovery; Repl. replication; Pool. pooled; pres. presence
