Pancreatitis

Gene: CASR

I don't know

Multiple publications linking variants in this gene and susceptibility to pancreatitis, however often in the presence of other variants also linked to pancreatitis and some of the variants have a high population frequency.

PMID: 16497624 Patients with both p.(N34S) SPINK1 gene variant and CASR variant developed pancreatitis, whereas in the healthy parents and children only an isolated CASR or N34S SPINK1 gene variant could be detected. Therefore proposes as co-factor in a multifactorial genetic setting of SPINK1-related pancreatitis that alters the susceptibility for pancreatitis in these patients.

PMID: 26166472 Overrepresentation of Rare CASR Coding Variants in a Sample of Young French Patients With Idiopathic Chronic Pancreatitis, case-control study in 57 patients and 21 controls found the R990G polymorphism was significantly associated with chronic pancreatitis (OR, 2.01; 95% CI, 1.12-3.59; P = 0.015).

PMID: 29173301 Targeted Gene Next-Generation Sequencing in Chinese Children with Chronic Pancreatitis and Acute Recurrent Pancreatitis. 5 children with the R986S variant (rs1801725) in this gene with acute recurrent pancreatitis (ARP) or chronic pancreatitis (CP) were identified in next-generation sequencing of 10 genes, but unclear from the article whether these were considered diagnostic. This variant is found at a frequency of T=0.12923 in GnomAD, and is deemed benign (2 stars) in ClinVar for Hypoparathyroidism. PMID: 17853337 - CASR gene was examined in patients with pancreatitis in primary hyperparathyroidism and no assoication with variants in this gene was found.

PMID: 30134826 Trans-heterozygosity for mutations enhances the risk of recurrent/chronic pancreatitis in patients with Cystic Fibrosis.

Created: 27 Jul 2020, 1:40 a.m. | Last Modified: 27 Jul 2020, 1:40 a.m.

Panel Version: 0.1

Mode of inheritance
Other

Phenotypes
Susceptibility to pancreatitis

Publications

• 16497624
• 26166472