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Pitt Researchers Find Genetics Play a Part in Pancreatitis

A new study out of The University of Pittsburgh finds a genetic link between chronic pancreatitis and alcohol consumption in men.  Researchers found a genetic variant of the chromosome X near the claudin-2 gene that predicts which heavy-drinking men are at risk of developing chronic pancreatitis.

Pancreatitis is a serious disease that develops in the pancreas, a digestive gland that makes insulin. 

“This is one of the worst chronic diseases ever.  It causes pain, it causes diabetes, depression, because people associate it with drinking, so there is stigma, it has a risk of pancreatic cancer, it messes up digestion,” said lead author, David Whitcomb, a professor of medicine, cell biology and physiology, and human genetics at The University of Pittsburgh Medical Center.  Witcomb has been working on the study for more than ten years.

Once someone develops pancreatitis, it takes several years for the pancreas to deteriorate.

This discovery will enable physicians to identify people with early signs of pancreatitis or an acute pancreatitis attack who are at high risk of developing pancreatitis and to then take preventive action.


This disease predominantly develops in men.  Whitcomb said this study solves the mystery of why people engage in the same behaviors yet only some develop chronic pancreatitis.


They found that there was a DNA variant on the X chromosome present in 26 percent of men without pancreatitis – but among men with alcoholic pancreatitis the number climbs to 50 percent.

Researchers said a huge part of why men are more likely to develop this disease is because they have only one X chromosome. Women have two so if one is destroyed or harmed, they essentially have a back-up copy.

The variation on the X chromosome doesn’t cause pancreatitis but if injured, it’s more likely that the person will develop the disease – especially if they consume alcohol.

Whitcomb said this discovery shows that there are diseases linked to genes and there are some linked to variations in genes. The later are called complex disorders.

“Small genetic effects that by themselves don’t do anything, but if they are inherited in combination with other genes that have their own defects or there are certain environmental factors then the combination causes an organ to malfunction,” said Whitcomb. 

Researchers looked at more than 2,000 subjects around the country. Whitcomb said there was no unifying factor among those with the genetic variation.

The hopes it that doctors can use this information to nip the problem in the bud before it develops into an end-stage disease.

“This is a big debate going on in the genetics community now, do you test for diseases before there are early signs and symptoms or do you wait for those early signs and symptoms and then minimize the disease,” said Whitcomb.

According to the Centers for Disease Control and Prevention, more than 100,000 Americans have chronic pancreatitis, a progressive inflammatory disease.

The study was funded by The National Institutes of Health and published Tuesday in Nature Genetics.