Pancreatitis

Gene: CTRB1

Red List (low evidence)

CTRB1 (chymotrypsinogen B1)
EnsemblGeneIds (GRCh38): ENSG00000168925
EnsemblGeneIds (GRCh37): ENSG00000168925
OMIM: 118890, Gene2Phenotype
CTRB1 is in 1 panel

1 review

Ellen McDonagh (Genomics England Curator)

Red List (low evidence)

Comment on publications: PMID: 30076839 - an induced pancreatitis in vivo model revealed that CTRB1-deficient mice given cerulein had significant increases in intrapancreatic trypsin activity and developed more severe pancreatitis compared with control mice. The authors suggest that CTRB1 protects against secretagogue-induced pancreatitis by reducing trypsin activity.
Created: 6 Dec 2018, 12:36 p.m.
PMID: 28754779 - identified CTRB1-CTRB2 as a new risk locus for alcoholic chronic pancreatitis and non-alcoholic chronic pancreatitis. A 16.6 kb inversion in the CTRB1-CTRB2 locus was in linkage disequilibrium with the CP-associated SNPs and was best tagged by rs8048956, reported to changes the expression ratio of the CTRB1 and CTRB2 isoforms and thereby affects protective trypsinogen degradation and ultimately pancreatitis risk. PMID: 28951524 found no association in the Chinese population. Not enough evidence at this time for this to be a cause of monogenic pancreatitis.
Created: 6 Dec 2018, 12:30 p.m.
Not associated with a disease in OMIM or Gene2Phenotype.
Created: 6 Dec 2018, 12:21 p.m.

Details

Sources
  • EUROPAC
OMIM
118890
Clinvar variants
Variants in CTRB1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 Dec 2018, Gel status: 1

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Ellen McDonagh: Not associated with a disease

6 Dec 2018, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for gene: CTRB1 were set to 28754779; 28951524

6 Dec 2018, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for gene: CTRB1 were set to

2 May 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

CTRB1 was added to Pancreatitis panel. Sources: EUROPAC

2 May 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

CTRB1 was created by Ellen McDonagh