Study: Genetic data can help predict IBD risk

Genetic data can help identify people at risk for inflammatory bowel diseases, a new study has found. Photo by Derneuemann/Pixabay
Genetic data can help identify people at risk for inflammatory bowel diseases, a new study has found. Photo by Derneuemann/Pixabay

Dec. 24 (UPI) -- Genetic data from people of different racial and ethnic backgrounds can be used to predict a person's risk for inflammatory bowel disease, according to an analysis published Thursday in the journal Gastroenterology.

Using data from the Mount Sinai Hospital System's multi-ethnic BioMe Biobank, a storehouse of individual patient molecular and genetic profiles, the researchers developed what they call "polygenic risk scores."


With these scores, they were able to accurately predict which patients would develop an IBD, the researchers said.

The findings could help speed the diagnosis and treatment of conditions such as Crohn's disease and ulcerative colitis by earmarking those in certain at-risk populations, they said.

"The ability to accurately predict genetic disease risk in individuals across ancestries is a critical avenue that may positively affect patient outcomes, as early interventions and even preventive measures are being considered and developed," study co-author Dr. Judy H. Cho, director of the Charles Bronfman Institute for Personalized Medicine at the Icahn School of Medicine at Mount Sinai, said in a statement.

Up to 3 million adults nationally have some form of IBD, according to the U.S. Centers for Disease Control and Prevention.


Although prescription drug treatments are available to manage the symptoms of these conditions, they are notoriously difficult to diagnose and treat because those symptoms mirror those of other diseases, according to Cho and her colleagues.

For the study study, researchers calculated risk scores by integrating genetic data from nearly 30,000 people in the BioMe BioBank, which contains data collected by the the New York City-based Mouth Sinai Hospital System.

The calculations significantly improved predictions among individuals with European, Ashkenazi Jewish and Hispanic ancestry in BioMe, as well as European individuals in the UK Biobank, which contains biological and medical data on one-half million people between ages 40 and 69 who live in the U.K.

Predictive ability was lower for patients with African ancestry, likely due to substantially smaller sets of patient data and substantially greater genetic diversity within populations of African descent, they said.

The risk scores are essentially an estimate of overall risk based on the sum of an individual's many, mostly common, genetic variants.

In addition, the researchers assessed rare variants in genes associated with very early onset IBD within each population and found that African American carriers of uncommon genetic variants had increased susceptibility to IBD.

The disrupted processes caused by these genetic variants can be reversed with the commonly prescribed antimalarial drug chloroquine, they said.


"These findings support a need for greater genetic diversity, including more data on African-American populations, to enhance disease risk predictions and reduce health disparities for all populations," said Cho.

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