Table 1. Top ranked P/PI genes in Crohn's disease.
| 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 | CylD protein | CYLD | 16:49333462-49393347 | 5/5 (100%) | 1/1 (100%) | 12/14 (86%) | 3/11 (27%) | 21/31 (68%) | 1142 | |
| 2 | acylaminoacyl-peptidase | APEH | 3:49686439-49695935 | 1/5 (20%) | 3/3 (100%) | 3/6 (50%) | 1/11 (9%) | 8/25 (32%) | 398 | |
| 2 | dystroglycan | DAG1 | 3:49482595-49548048 | 1/5 (20%) | 3/3 (100%) | 3/6 (50%) | 1/11 (9%) | 8/25 (32%) | 398 | |
| 2 | macrophage-stimulating protein | MST1 | 3:49696393-49701110 | 1/5 (20%) | 3/3 (100%) | 3/6 (50%) | 1/11 (9%) | 8/25 (32%) | 398 | |
| 2 | ubiquitin-specific peptidase 4 | USP4 | 3:49290003-49352519 | 1/5 (20%) | 3/3 (100%) | 3/6 (50%) | 1/11 (9%) | 8/25 (32%) | 398 | |
| 6 | peroxisomal Lon peptidase | LONP2 | 16:46835712-46944908 | 0/5 (0%) | 8/9 (89%) | 3/11 (27%) | 11/25 (44%) | 383 | ||
| 7 | polyserase-3 unit 2 | PRSS53 | 16:31002246-31007631 | 0/5 (0%) | 7/8 (88%) | 2/11 (18%) | 9/24 (38%) | 318 | ||
| 7 | polyserase-2 unit 3 | PRSS36 | 16:31057750-31068888 | 0/5 (0%) | 7/8 (88%) | 2/11 (18%) | 9/24 (38%) | 318 | ||
| 7 | prostasin | PRSS8 | 16:31050255-31054320 | 0/5 (0%) | 7/8 (88%) | 2/11 (18%) | 9/24 (38%) | 318 | ||
| 10 | complement factor D | DF | 19:810665-814606 | 0/5 (0%) | 3/3 (100%) | 0/1 (0%) | 2/11 (18%) | 5/20 (25%) | 312 | |
| 10 | elastase-2 | ELANE | 19:803291-807242 | 0/5 (0%) | 3/3 (100%) | 0/1 (0%) | 2/11 (18%) | 5/20 (25%) | 312 | |
| 12 | carboxylesterase 1 | CES1 | 16:54394267-54424576 | 0/5 (0%) | 6/7 (86%) | 3/11 (27%) | 9/23 (39%) | 284 | ||
| 12 | carboxylesterase 7 | CES7 | 16:54437629-54466783 | 0/5 (0%) | 6/7 (86%) | 3/11 (27%) | 9/23 (39%) | 284 | ||
| 12 | matrix metallopeptidase-2 | MMP2 | 16:54070589-54098101 | 0/5 (0%) | 6/7 (86%) | 3/11 (27%) | 9/23 (39%) | 284 | ||
| 15 | ubiquitin-specific peptidase 40 | USP40 | 2:234048905-234134623 | 2/5 (40%) | 2/2 (100%) | 0/11 (0%) | 4/18 (22%) | 280 | ||
| 16 | plasma kallikrein-like protein 4 | PRSS54 | 16:56871403-56886444 | 0/5 (0%) | 5/6 (83%) | 2/11 (18%) | 7/22 (32%) | 220 | ||
| 16 | Membrane-type matrix metalloproteinase 2 | MMP15 | 16:56616783-56638303 | 0/5 (0%) | 5/6 (83%) | 2/11 (18%) | 7/22 (32%) | 220 | ||
| 16 | NDRG4 protein | NDRG4 | 16:57055118-57105024 | 0/5 (0%) | 5/6 (83%) | 2/11 (18%) | 7/22 (32%) | 220 | ||
| 19 | haptoglobin-1 | HP | 16:70646009-70652458 | 0/5 (0%) | 1/1 (100%) | 2/2 (100%) | 2/11 (18%) | 5/19 (26%) | 212 | |
| 19 | haptoglobin-related protein | HPR | 16:70654624-70668645 | 0/5 (0%) | 1/1 (100%) | 2/2 (100%) | 2/11 (18%) | 5/19 (26%) | 212 |
Shown are the top 20 P/PIs with an evidence score of >200 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.