Table 2. Top ranked P/PI genes in ulcerative colitis.
| Rank | Protease/protease inhibitor | Gene symbol | Genomic location1 | Genome-wide association scans (%)2 | Replication of genome-wide association scans (%)2 | Candidate gene studies (%)2 | Candidate region studies (%)2 | Genome-wide linkage scans (%)2 | Number of positive studies (%) | Evidence score |
| 1 | acylaminoacyl-peptidase | APEH | 3:49686439-49695935 | 1/2 (50%) | 3/3 (100%) | 1/4 (25%) | 0/5 (0%) | 5/14 (36%) | 363 | |
| 1 | macrophage-stimulating protein | MST1 | 3:49696393-49701110 | 1/2 (50%) | 3/3 (100%) | 1/4 (25%) | 0/5 (0%) | 5/14 (36%) | 363 | |
| 3 | dystroglycan | DAG1 | 3:49482595-49548048 | 1/2 (50%) | 3/3 (100%) | 0/3 (0%) | 0/5 (0%) | 4/13 (31%) | 350 | |
| 3 | ubiquitin-specific peptidase 4 | USP4 | 3:49290003-49352519 | 1/2 (50%) | 3/3 (100%) | 0/3 (0%) | 0/5 (0%) | 4/13 (31%) | 350 | |
| 5 | ubiquitin-specific peptidase 19 | USP19 | 3:49120468-49133316 | 1/2 (50%) | 2/2 (100%) | 0/3 (0%) | 0/5 (0%) | 3/12 (25%) | 250 | |
| 6 | Glutaminyl cyclase-like | QPCTL | 19:50887772-50898426 | 1/2 (50%) | 1/2 (50%) | 0/1 (0%) | 1/5 (20%) | 3/10 (30%) | 107 | |
| 7 | ubiquitin-specific peptidase 15 | USP15 | 12:60940454-61086165 | 0/2 (0%) | 3/5 (60%) | 0/5 (0%) | 3/12 (25%) | 90 | ||
| 8 | alpha-2-macroglobulin | A2M | 12:9096693-9160020 | 0/2 (0%) | 1/1 (100%) | 1/5 (20%) | 2/8 (25%) | 57 | ||
| 8 | alpha-2-macroglobulin-like 1 protein | A2ML1 | 12:8866484-8920646 | 0/2 (0%) | 1/1 (100%) | 1/5 (20%) | 2/8 (25%) | 57 | ||
| 8 | complement component activated C1r | C1R | 12:7138294-7153069 | 0/2 (0%) | 1/1 (100%) | 1/5 (20%) | 2/8 (25%) | 57 | ||
| 8 | complement component activated C1s | C1S | 12:7038278-7048594 | 0/2 (0%) | 1/1 (100%) | 1/5 (20%) | 2/8 (25%) | 57 | ||
| 8 | proteasome catalytic subunit 3i | PSMB8 | 6:32916472-32920690 | 1/2 (50%) | 0/1 (0%) | 0/3 (0%) | 1/5 (20%) | 2/11 (18%) | 57 | |
| 8 | proteasome catalytic subunit 1i | PSMB9 | 6:32919891-32955342 | 1/2 (50%) | 0/1 (0%) | 0/3 (0%) | 1/5 (20%) | 2/11 (18%) | 57 | |
| 8 | pregnancy-zone protein | PZP | 12:9192704-9252233 | 0/2 (0%) | 1/1 (100%) | 1/5 (20%) | 2/8 (25%) | 57 | ||
| 8 | ubiquitin-specific peptidase 3 | USP3 | 15:61583863-61670712 | 1/2 (50%) | 0/1 (0%) | 1/5 (20%) | 2/8 (25%) | 57 | ||
| 8 | ubiquitin-specific endopeptidase 39 | USP39 | 2:85696794-85729916 | 0/2 (0%) | 1/1 (100%) | 1/5 (20%) | 2/8 (25%) | 57 | ||
| 8 | ubiquitin-specific peptidase 5 | USP5 | 12:6831570-6846054 | 0/2 (0%) | 1/1 (100%) | 1/5 (20%) | 2/8 (25%) | 57 | ||
| 8 | von Willebrand factor inhibitor unit 2 | VWF | 12:5928301-6104097 | 0/2 (0%) | 1/1 (100%) | 1/5 (20%) | 2/8 (25%) | 57 |
Shown are the top P/PIs with an evidence score of >50 and at least 2 positive studies.
1
Chromosome: start and end boundaries (base pairs; NCBI Build 36 coordinates).
2
Number of positive studies/total studies, percentage of positive studies of respective study type in brackets; empty cells indicate no evidence available for the specific gene and the respective study type.