title: The contribution of the SPINK1 c.194+2T>C mutation to the clinical course of idiopathic chronic pancreatitis in Chinese patients.
abstract: BACKGROUND
  Recent data suggest that the serine protease inhibitor Kazal type 1 (SPINK1) gene mutation is associated with idiopathic chronic pancreatitis. However, few studies have focused on the serine protease inhibitor Kazal type 1 c.194+2T>C mutation. Therefore, our goal was to study the prevalence and impact of serine protease inhibitor Kazal type 1 mutations on the clinical profile of idiopathic chronic pancreatitis patients in China.
  
  
  METHODS
  A retrospective-cohort study of 118 Chinese patients with idiopathic chronic pancreatitis was performed, and genetic tests were carried out to detect SPINK1 mutations. Subjects without pancreatitis were used as controls. In total, 118 idiopathic chronic pancreatitis patients and 100 control subjects were evaluated.
  
  
  RESULTS
  The serine protease inhibitor Kazal type 1 c.194+2T>C variant was present in 44.9% of patients with idiopathic chronic pancreatitis. The frequency of diabetes in idiopathic chronic pancreatitis patients with the serine protease inhibitor Kazal type 1 c.194+2T>C mutation (39.6%) was higher than that of patients without the mutation (9.2%). The time to occurrence of diabetes mellitus after idiopathic chronic pancreatitis symptom onset is significantly influenced by the c.194+2T>C mutation (p<0.001). In addition, the mean age of diabetes onset in patients with the serine protease inhibitor Kazal type 1 c.194+2T>C mutation (38.33 ± 9.50) was significantly younger than that of patients without this mutation (49.67 ± 6.74).
  
  
  CONCLUSIONS
  The presence of the serine protease inhibitor Kazal type 1 c.194+2T>C mutation seems to be associated with idiopathic chronic pancreatitis and could predispose individuals to pancreatic diabetes onset at an earlier age.
authors.affiliation: Department of Gastroenterology, Changhai Hospital, Second Military Medical University, Shanghai, China.
authors.forename: Chang
authors.initials: C
authors.lastname: Sun
authors.forename: Zhuan
authors.initials: Z
authors.lastname: Liao
authors.forename: Lili
authors.initials: L
authors.lastname: Jiang
authors.forename: Fu
authors.initials: F
authors.lastname: Yang
authors.forename: Geng
authors.initials: G
authors.lastname: Xue
authors.forename: Qi
authors.initials: Q
authors.lastname: Zhou
authors.forename: Ruiwen
authors.initials: R
authors.lastname: Chen
authors.forename: Shuhan
authors.initials: S
authors.lastname: Sun
authors.forename: Zhaoshen
authors.initials: Z
authors.lastname: Li
mesh_terms: D000328:Adult; D000367:Age Factors; D044466:Asian People / Q000235:genetics*; D002352:Carrier Proteins / Q000235:genetics*; D016022:Case-Control Studies; D015331:Cohort Studies; D017931:DNA Primers / Q000737:chemistry; D003920:Diabetes Mellitus / Q000209:etiology / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics; D050500:Pancreatitis, Chronic / Q000150:complications / Q000235:genetics*; D015995:Prevalence; D012189:Retrospective Studies; D020133:Reverse Transcriptase Polymerase Chain Reaction; D012307:Risk Factors; D014359:Trypsin Inhibitor, Kazal Pancreatic
chemical_list: D002352:Carrier Proteins; D017931:DNA Primers; C486642:SPINK1 protein, human; D014359:Trypsin Inhibitor, Kazal Pancreatic