Pancreatitis
Gene: CTRC
Susceptibility allele rather than Mendelian disorder.
Rosendahl et al. (2008) (PMID: 18059268) analysed CTRC in 901 German subjects with idiopathic or hereditary chronic pancreatitis. Two alterations in this gene, R254W and K247_R254del, were significantly overrepresented in the pancreatitis group. A replication study identified these 2 variants in 10 of 348 (2.9%) individuals with alcoholic chronic pancreatitis but only 3 of 432 (0.7%) subjects with alcoholic liver disease. CTRC variants were also found in 10 of 71 (14.1%) Indian subjects with tropical pancreatitis but only 1 of 84 (1.2%) healthy controls. Functional analysis of these CTRC variants showed impaired activity and/or reduced secretion. R254W is present in 1305 heterozygotes in gnomad, and 12 homozygotes, which is out of keeping with a Mendelian disorder.
Masson et al. (2008) (PMID:18172691) sequenced the CTRC gene in 287 white French patients with idiopathic chronic pancreatitis and 350 controls and identified 2 common variants and 19 rare variants. The combined frequency of the rare variants in patients with sporadic chronic pancreatitis was significantly higher than that of controls (12% versus 1.1%; OR, 11.8; p less than 10(-6)).
More recently Giefer et al. (2017)(PMID: 28502372) looking at 342 children (< 19 years old) with pediatric acute recurrent pancreatitis or chronic pancreatitis found that CTRC variants were more common among those with early onset pancreatitis (EOP) (< 6 years old) (14%) than in the later onset cohorts (p=0.01). Seven different CTRC variants were found and the p.R254W variant was identified in three patients, all of whom had EOP. Only 2 patients with onset of disease at age 6 years or older were found to have a CTRC mutation.Created: 27 Jul 2020, 3:56 a.m. | Last Modified: 27 Jul 2020, 3:56 a.m.
Panel Version: 0.13
Mode of inheritance
Other
Phenotypes
{Pancreatitis, chronic, susceptibility to}, MIM#167800
Publications
Gene: ctrc has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: CTRC were changed from to {Pancreatitis, chronic, susceptibility to}, MIM#167800
Publications for gene: CTRC were set to
Mode of inheritance for gene: CTRC was changed from Unknown to Other
Gene: ctrc has been classified as Amber List (Moderate Evidence).
gene: CTRC was added gene: CTRC was added to Pancreatitis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CTRC was set to Unknown