Prevalence of the N34S Mutation in Patients with Acute Pancreatitis
Makaleler > Tam Makale · 2006
Yazarlar: Elie Aoun, Janette Lamb, George I. Papachristou, Nevin ORUÇ, Michael M. Barmada, David C. Whitcomb
American Journal of Gastroenterology, Uluslararası, Wos, 2006, cilt 101, ss S109-S110
DOI: 10.14309/00000434-200609001-00201
Özet
Purpose: Serine Protease Inhibitor Kazal type I (SPINK-1) is a specific trypsin inhibitor expressed in the pancreas. It has been hypothesized that SPINK-1 acts as the first-line of defense against premature trypsin activation within the pancreas. Mutations in the SPINK-1 gene are associated with chronic pancreatitis however their role in acute pancreatitis remains unclear. This study aims at studying the prevalence of the N34S mutation in a cohort of patients with acute pancreatitis. Methods: Blood was collected from 102 patients with acute pancreatitis and 239 controls. We tested for the presence of the N34S mutation using validated genotyping methods. Results: The N34S mutation was detected in 5 patients (3 heterozygotes and 2 homozygotes) all of which had recurrent acute pancreatitis. 7 controls (all heterozygotes) tested positive. The calculated Odds Ratio was 2.391 with a 95% confidence interval of 0.828 – 6.906. Conclusions: The SPINK-1 N34S mutation does not seem to play an important role in the pathogenesis of acute pancreatitis. This suggests that the previously proposed mechanism of SPINK-1 associated protection needs to be reconsidered.