Pancreatitis and pancreatic insufficiency are associated with both cys
tic fibrosis and alcoholism. The pathogenesis of alcoholic pancreatiti
s is unknown, but only a minority of alcoholics develop pancreatitis,
and it has been suggested that a genetic predisposition may play a rol
e in this disease. Two observations led to the hypothesis that this ge
netic predisposition could result from mutations in the cystic fibrosi
s gene. First, the prevalence of cystic fibrosis mutations in the Cauc
asian population (approximately 5%) is similar to the prevalence of pa
ncreatitis among heavy drinkers. Second, in both diseases, pancreatic
duct damage is a prominent feature and has been postulated to be the i
nitial site of injury. Therefore, the aim of this study was to determi
ne whether an increased frequency of mutations in the cystic fibrosis
gene occurs in alcoholic pancreatitis. The 15 most common cystic fibro
sis mutations in a Caucasian community were sought in 24 subjects with
alcoholic pancreatitis. None were homozygous or heterozygous for thes
e mutations. These findings suggest that cystic fibrosis mutations are
not a major genetic factor predisposing to pancreatic injury in alcoh
olics.