Table 1 Association of p.R179X in RNF186 with ulcerative colitis.
From: A protein-truncating R179X variant in RNF186 confers protection against ulcerative colitis
Study | Data type | UC | Controls | Control MAF (%) | P | OR | ||
|---|---|---|---|---|---|---|---|---|
179 × | R179 | 179 × | R179 | |||||
GWASseq | Sequence (targeted) | 0 | 1,774 | 6 | 1,828 | 0.33 | ||
Finland | Sequence (exome) | 0 | 1,016 | 23 | 16,223 | 0.14 | ||
Screen | — | 0 | 2,790 | 29 | 18,051 | 0.022 | 0 | |
US+Canada | Exome chip | 4 | 6,354 | 21 | 12,883 | 0.16 | ||
UK | Sequencing | 2 | 3,854 | 10 | 7,294 | 0.14 | ||
Sweden | Exome chip | 2 | 1,518 | 45 | 10,813 | 0.41 | ||
Belgium | Genotyping | 0 | 1,696 | 0 | 1,764 | 0.00 | ||
Germany | Genotyping | 1 | 2,035 | 7 | 4,399 | 0.16 | ||
Dutch | Genotyping | 1 | 1,133 | 8 | 4,164 | 0.19 | ||
Italy | Genotyping | 0 | 0 | 2 | 1,914 | 0.10 | ||
Iceland | Sequencing+imputation | 7 | 2,899 | 4,130 | 525,358 | 0.78 | ||
N cases 1,453 | N controls 264,744 | MAF=0.78% | ||||||
Replication | 8.69 × 10−6 | 0.33 (0.20–0.55) | ||||||
Combined (screen +replication) | 6.89 × 10−7 | 0.30 (0.19–0.50) | ||||||
