Relevance of Variants in Serum Antiproteinases for the Course of Chronic Pancreatitis

Abstract

Our study suggests a moderating, but not predominant, role of AAT variants in the course of chronic non-alcoholic pancreatitis.

Genetic Mutations in a Spanish Population with Chronic Pancreatitis

“…Like ourselves, Witt et al [20] found no significant differences between AAT deficiency allele in CP patients and controls. The PiS mutation frequency in CP patients in Spain (22%) was higher than that reported in Germany (4.1%), while the PiZ frequency was lower (0.96 vs. 2%) [19] . In conclusion, in the present study the percentage of N29I mutations in the PRSS1 gene in ACP patients was higher than that reported in published data, while the percentage of N34S mutations in the SPINK1 gene in ACP and ICP patients was similar to findings in other studies and populations.…”

“…All genetic variants of PRSS1 and SPINK1 genes are described in a continuously updated database [18] . With regard to ␣ 1 -antitrypsin ( AAT ), the genetic variants of this enzyme do not appear to play a predominant role in chronic non-alcoholic pancreatitis [19,20] or in ACP [21] . However, little is known about its possible impact on the pathogenesis of CP.…”

Genetics of pancreatitis: A guide for clinicians

“…However, these studies were performed by 1 -antitrypsin phenotyping on the protein level or measuring the serum concentrations of 1 -antitrypsin. About 25 years later, two large genetic studies could not confirm a significant enrichment of the two alleles causing 1 -antitrypsin deficiency in patients with CP [36,37].…”

Genetic counseling for hereditary pancreatitis – the role of molecular genetics testing for the cationic trypsinogen gene, cystic fibrosis and serine protease inhibitor Kazal type 1

“…Other lower penetrance and perhaps modifier genes have been identified, particularly the cystic fibrosis (CFTR) and the pancreatic secretory trypsin inhibitor/serine protease inhibitor Kazal type 1 (PSTI/SPINK1). Other genes have been examined including alpha-1-antitrypsin (a1AT) [38,39], the Glutathione S-Transferases [40], and cathepsin B [41] for a possible modifying role in pancreatitis with inconclusive or negative results.…”