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The genetic variant on the X chromosome near the claudin-2 gene was discovered during a 10-year study that included more than 2,000 people. The variant was found on the X chromosome in 26 percent of men without pancreatitis and in nearly 50 percent of men with alcoholic pancreatitis.
Women have two X chromosomes and it appears that most of those with this high-risk variant on one X chromosome are protected from alcoholic pancreatitis if their other X chromosome is normal.
Men, however, have an X chromosome and a Y chromosome, so they have no protection if their X chromosome has the high-risk variant.
The variant on the X chromosome does not appear to cause pancreatitis, but increases the risk of chronic pancreatitis if a person suffers a pancreatic injury, especially if they drink alcohol, explained the University of Pittsburgh School of Medicine researchers.
The study was published online Nov. 12 in the journal Nature Genetics.
Chronic pancreatitis is a progressive inflammatory disease that causes permanent damage to the pancreas. The condition affects more than 100,000 people in the United States. Alcohol is considered a major risk factor for adult-onset chronic pancreatitis, but only about 3 percent of alcoholics develop the disorder, which suggests that there is a factor specific to the pancreas.
"The discovery that chronic pancreatitis has a genetic basis solves a major mystery about why some people develop chronic pancreatitis and others do not," study lead author Dr. David Whitcomb, professor of medicine, cell biology and physiology, and human genetics, said in a university news release.
"We also knew there was an unexpected higher risk of men developing pancreatitis with alcohol consumption, but until now we weren't sure why," he said. "Our discovery of this new genetic variant on chromosome X helps explain this mystery as well."
The study findings may enable doctors to identify people with early signs of pancreatitis or an attack of acute pancreatitis who are at very high risk for progressing to chronic pancreatitis. These patients can then receive treatment to slow the development of the disease and allow the pancreas a chance to heal.
-- Robert Preidt
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