Cystic Fibrosis Gene Mutation Tied to Pancreatitis Risk

Cystic fibrosis genotype associated with mild phenotypes tied to higher risk of pancreatitis

THURSDAY, Feb. 3 (HealthDay News) -- Patients with pancreatic-sufficient cystic fibrosis (CF) carrying genotypes associated with mild phenotypes appear to be at an increased risk of developing pancreatitis as compared to patients with the disease carrying genotypes associated with moderate-severe phenotypes, according to a study published in the January issue of Gastroenterology.

Chee Y. Ooi, of The Hospital for Sick Children in Toronto, and colleagues identified 277 patients with pancreatic-sufficient CF from two CF population-based databases to assess whether genotypes of the CF gene (CFTR) determined the risk of pancreatitis.

The investigators found that patients with pancreatitis were more likely to have genotypes associated with mild (70 percent) as compared with moderate-severe (30 percent) pancreatic insufficiency prevalence (PIP) scores. The investigators also found that the cumulative proportion of patients who developed pancreatitis through age 50 years was significantly greater for genotypes associated with mild (50 percent) than moderate-severe (27 percent) PIP scores. Compared to patients without pancreatitis, patients with pancreatitis were diagnosed with CF at an older median age and had lower mean levels of sweat chloride.

"Specific CFTR genotypes are significantly associated with pancreatitis. Patients with genotypes associated with mild phenotypic effects have a greater risk of developing pancreatitis than patients with genotypes associated with moderate-severe phenotypes," the authors write.

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