The largest pediatric genetics study of its kind found that most children with acute recurrent or chronic pancreatitis carry inherited genetic variants, and those variants may be tied to how quickly the disease progresses.
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The largest genetics study ever done in pediatric pancreatitis looked at 944 children with acute recurrent (also called recurrent acute) or chronic pancreatitis. Nearly three-quarters (74%) carried at least one genetic risk variant, and the children who did tended to develop chronic pancreatitis years earlier.
If your child’s pancreatitis has been labeled “idiopathic,” meaning doctors couldn’t find a cause, findings like these may help explain it. We sat down with Dr. Maisam Abu-El-Haija, co-first author of the study, to ask what the results mean for when children should be tested and how they are followed over time.
Dr. Abu-El-Haija is Medical Director of the Pancreas Care Center at Cincinnati Children’s, a pediatric gastroenterologist in the Division of Pediatric Gastroenterology, and Professor in the UC Department of Pediatrics. Her team’s paper, “Pancreatitis Risk Genes Play a Major Role in Pediatric Pancreatitis: Insights From INSPPIRE,” was published June 16, 2026, in Clinical Gastroenterology and Hepatology.
What is a genetic risk variant?
DNA (deoxyribonucleic acid) is a long molecule that contains the instructions for how our bodies develop and function. A gene is a specific, smaller section of DNA with particular instructions. A gene variant is a spot where a gene reads a little differently from the standard copy. Everyone carries variants, and most are harmless.
However, some variants raise a person’s chances of developing certain diseases. These are called risk variants. A risk variant is a clue, not a cause. Having one doesn’t guarantee a person will get sick, and not having one doesn’t rule it out. A few genes have already been linked to pancreatitis (read more about genetics and pancreatitis). This study set out to see how often variants in those genes show up in children, and whether they affect how the disease progresses.
What did they find?
The researchers compared the DNA of all 944 children against genetic data from the general public. Here’s what they found:
- 74% of the children carried at least one genetic risk variant
- More than a third (36%) carried two or more variants, either in the same gene or in different genes. Researchers don’t yet know how multiple variants act together. Children with one variant and children with two or more both progressed faster than children with none.
- 120 variants were more common in children with pancreatitis than in the general population.
- Of those 120 variants, 79 had never before been linked to pancreatitis.
- Most of the key variants were found on the CFTR, PRSS1, CTRC, and SPINK1 genes.
- Children with a genetic risk variant developed chronic pancreatitis sooner after their first attack. It took a median of about 5.7 years to go from a first attack to chronic pancreatitis, compared with 10.8 years for children without a known variant.
Together, these findings suggest that genetics plays an important role in pediatric pancreatitis and may influence how quickly the disease progresses.
Why so many new variants turned up
Earlier studies often looked at one or two genes, or at a single known variation within a gene. This team sequenced every gene on the panel from end to end.
“People think of one [variant] in PRSS1,” Dr. Abu-El-Haija said. “We sequenced the whole PRSS1 gene, and then we did that for every single gene on the panel.”
Looking at whole genes is how the researchers found variants no one had linked to pancreatitis before. She called the scale of the findings unexpected.
Which genes were linked to disease progression?
Not all genetic variants appeared to have the same effect.
Variants in PRSS1 and CTRC were both more common in children with chronic pancreatitis, and both were linked to faster progression from repeated attacks to chronic disease. Variants in SPINK1 were also linked to faster progression.
Variants in CASR and CPA1 were more common in children with acute recurrent pancreatitis and were linked with slower progression to chronic pancreatitis. This is a new finding, and researchers don’t yet know why these variants might slow progression.
What genetic testing can, and can't, tell you
This study suggests that genetic testing may help explain why some children develop recurrent or chronic pancreatitis, particularly when there isn’t an obvious cause.
However, a genetic risk variant is only one part of the picture. Having one doesn’t mean someone will definitely develop chronic pancreatitis, and not finding one within the genetic panel that is being used doesn’t rule out a genetic cause. Doctors still consider symptoms, imaging, family history, and medical history when caring for someone with pancreatitis.
When should a child be tested?
Dr. Abu-El-Haija recommends genetic testing for children who have had a second episode of pancreatitis, or a first episode along with a family history of the disease. After a single episode with no family history, she may wait.
She also recommends a panel that covers 10 or more genes. “No one does three and four genes anymore,” she said. A narrow panel can miss a genetic cause, and a negative result can lead to families being told their child doesn’t have pancreatitis. The study’s own numbers support this. It found a variant in 72% of children with acute recurrent pancreatitis, compared with 48% in an earlier INSPPIRE study. The authors point out that the earlier work left out CASR and CPA1, two genes that are common in acute recurrent pancreatitis.
This reflects her clinical practice. Talk with your child’s care team about what fits your family.
What a result can mean for your family
For some families, genetic testing may help:
- understand why pancreatitis is happening
- guide conversations about monitoring and follow-up care
- plan screening for complications such as diabetes or exocrine pancreatic insufficiency
- know whether the variant could be passed on to the child’s own children later in life
- decide whether a referral to a specialized pancreatitis center or genetic counselor may be helpful
A result can also protect families from being doubted. Dr. Abu-El-Haija sees children who were told they don’t have a pancreas problem because their lipase was normal on a given day. A genetic finding gives a documented reason why a child’s pancreas has been affected.
When results come back, she sits down with each family to talk through what they mean. A genetic variant is lifelong, and families need a roadmap for follow-up and screening.
Learn more about genetic testing for pancreatitis, or see the pancreatitis gene panel offered by Cincinnati Children’s.
How did the researchers do this study?
Researchers from Cincinnati Children’s Hospital, the INternational Study Group of Pediatric Pancreatitis: In search for a cuRE (INSPPIRE) research network, and the NIH-funded Consortium for the Study of Chronic Pancreatitis, Diabetes, and Pancreatic Cancer (CPDPC) studied genetic data from 944 children. Each child had either acute recurrent pancreatitis (repeated attacks) or chronic pancreatitis. Dr. Abu-El-Haija said building this group of patients and collecting their samples took about a decade.
The children’s DNA was tested on panels of up to 14 genes already known to be linked to pancreatitis, including PRSS1, CFTR, SPINK1, CTRC, CASR, and CPA1. Testing was done at two labs, Cincinnati Children’s and Ariel Precision Medicine. The researchers then compared each child’s genetic results with their medical history, including how quickly they developed chronic pancreatitis.
They also compared the children’s DNA with gnomAD (the Genome Aggregation Database), a large public collection of human genetic data. This let them spot variants that showed up more often in children with pancreatitis than in the general population.
A few things to keep in mind
This study is an important step toward understanding the role of genetics in pediatric pancreatitis, but it has limitations. The genetic data came from two sources: Cincinnati Children’s Hospital and the INSPPIRE research network. Because the two used slightly different gene panels, not all of the children were tested for all of the genes, so some rarer variants could have been missed.
Additionally, most of the children in this study were White (73%). Because of this, the findings may not apply equally to children of other backgrounds. Future genetic studies on other pediatric demographic groups will be important to learn more.
Why study children?
Children usually aren’t exposed to environmental risk factors like smoking or alcohol. That makes it easier for researchers to study the role of genetics without as many other factors influencing the results.
Researchers have long suspected that inherited genetic variants play an important role in pediatric pancreatitis. Until now, individual centers often tested for one gene or a handful of genes. This study pulled the evidence together and offers new clues about which genes may affect how the disease develops over time.
Although this research focused on children, it matters for adults, too. Understanding these genetic variants in children can help researchers understand pancreatitis across all ages.
What's next
This study shows which variants show up more often in children with pancreatitis. It doesn’t yet show what each variant does to the pancreas.
“If you understand how a gene could lead pathomechanistically to a disease, you could block that pathway,” Dr. Abu-El-Haija said. She hopes the findings from this research give researchers and industry partners specific targets for new therapies.
Future research will also explore how these variants interact with environmental and other health factors, which this study couldn’t measure. Researchers want to learn whether genetic information can eventually help personalize treatment and identify people who may benefit from earlier care and close monitoring. Dr. Abu-El-Haija is hopeful that linking genes to how the disease behaves will soon tell families when their next visit should be and when to screen for other complications.
For families living with pancreatitis today, the study is a reminder that genetics can be an important part of understanding the disease. “Knowledge is power,” she said. “What we don’t have treatment for today, I’m very hopeful we will have something for in the next years or a decade.”
If your family is navigating a new or ongoing pancreatitis diagnosis and has questions about genetic testing, our genetic testing toolkit is a good place to start a conversation with your care team.
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At Mission: Cure, we are dedicated to finding effective treatments and, ultimately, a cure for pancreatitis. Through patient education, research, and advocacy, we strive to improve the lives of those affected by this condition.
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