Prevalence of pancreatic diabetes in patients carrying mutations or polymorphisms of the PRSS1 gene in the Han population

Diabetes Technol Ther. 2009 Dec;11(12):799-804. doi: 10.1089/dia.2009.0051.

Abstract

Objective: This study updated the estimated prevalence of type 3c diabetes damage to the pancreas through different genotypes of PRSS1 and their clinical characteristics in the Han population.

Subjects and methods: Cross-sectional analysis was performed of the most recent (2003-2007) patients with pancreatitis from six hospitals of the Han population in South China (n = 253).

Results: There were 32 patients with pancreatitis carrying a PRSS1 gene abnormality within intron region among 253 cases of pancreatitis, including 27 patients carrying novel single nucleotide polymorphisms, namely, IVS 3 +75 A --> G conversion, and five patients with the mutation IVS3 + 10 T --> G. Among these patients, there were only three cases of patients with diabetes (9.37%). This was lower than the prevalence of abnormalities in the exons of the PRSS1 gene (51.92%): 12 patients with c.361 G --> A, eight patients with c.415 T --> A, and five patients with c.365G --> A. Among them were 12 persons with diabetes, including five requiring insulin to regulate blood sugar. What is more, among the 27 patients carrying PRSS1 gene polymorphism (c.486 C --> T, within the exon 4), there were 15 persons with diabetes symptoms. More than 40% of these patients required insulin to regulate blood sugar.

Conclusions: An abnormality within the intron region of the PRSS1 gene represents one of the causes of pancreatitis in Chinese patients, but it is not related to pancreatic diabetes. However, the exon abnormality obviously raises the morbidity rate of type 3c diabetes, which relies on insulin.

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Asian People / genetics
  • Case-Control Studies
  • Child
  • Child, Preschool
  • China / epidemiology
  • Cross-Sectional Studies
  • Diabetes Mellitus / epidemiology
  • Diabetes Mellitus / ethnology
  • Diabetes Mellitus / genetics*
  • Female
  • Genetic Predisposition to Disease
  • Humans
  • Male
  • Middle Aged
  • Pancreatitis / epidemiology
  • Pancreatitis / ethnology
  • Pancreatitis / genetics*
  • Point Mutation / genetics*
  • Polymerase Chain Reaction
  • Polymorphism, Genetic*
  • Prevalence
  • Trypsin / genetics*
  • Trypsinogen / genetics*
  • Young Adult

Substances

  • Trypsinogen
  • PRSS1 protein, human
  • Trypsin