New genes found for inflammatory bowel disease in children


Washington : Researchers have discovered two new genes that increase the risk of developing inflammatory bowel disease or IBD in childhood.

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Inflammatory bowel disease symptoms include abdominal cramps, bloody diarrhoea, and fever. Other symptoms of IBD include weight loss.

While further study is needed to identify the specific disease-causing mutations in these new genes, researchers said the genes are particularly strong candidates to be added to the list of genes already known to affect IBD.

“As we continue to find genes that interact with each other and with environmental influences in this complex, chronic disease, we are building the foundation for personalised treatments tailored to a patient’s genetic profile,” said co-author Robert N. Baldassano, director of the Centre for Paediatric Inflammatory Bowel Disease at The Children’s Hospital of Philadelphia.

“We will resequence the gene regions we have identified to pinpoint the causative mutations in these genes,” added study leader Hakon Hakonarson, director of the Centre for Applied Genomics at Children’s Hospital. “We strongly suspect one gene will provide a compelling target for drug development, given what’s known about its biology.”

Both authors direct research programmes at Children’s Hospital and are also faculty members of the University of Pennsylvania School of Medicine.

Their study was performed in collaboration with researchers from the Medical College of Wisconsin, University of Utah, Cincinnati Children’s Hospital and two research hospitals in Italy.

IBD is a painful, chronic inflammation of the gastrointestinal tract, affecting about two million children and adults in the US. Of that number, about half suffer from Crohn’s disease, which can affect any part of the gastrointestinal tract, and half have ulcerative colitis, which is limited to the large intestine.

IBD that begins in childhood tends to be more severe than adult-onset disease, and is more likely to affect the colon than other areas of the GI tract.

Researchers performed a genome-wide association study, searching for genetic variations in DNA samples from 1,000 patients with childhood-onset IBD, compared to samples from 4,250 healthy subjects. Both patients and controls were of European ancestry.

In addition to finding gene variations previously reported by other groups, the study team identified two novel gene variants, one on chromosome 20 and the other on chromosome 21. They then replicated their findings with studies using additional samples from other sources.

The study appeared in advance online Sunday edition of Nature Genetics.