Researchers are narrowing in on the specific genes that are responsible for inflammatory bowel disease (IBD), a discovery that could lead to better treatment strategies and new therapy targets.
Scientists conducted detailed genetic and statistical analysis of over 600 genes previously associated with IBD, allowing them to identify 18 genetic variants actively involved in IBD development, according to an article published in the science journal Nature.
The findings are featured in a study titled, “Fine-mapping inflammatory bowel disease loci to single-variant resolution.”
The underlying cause of IBD remains unknown, and for many years researchers have searched for genetic abnormalities that could explain the disease’s development. Hundreds of links between the disease and various genes have been reported, but their clinical relevance is not fully understood. This new research allowed the team to produce a high-resolution map to investigate which genetic variants contribute to causing IBD.
“An issue with studying complex diseases is that it can be hard to move from genetic associations, usually including many genetic variants of similar evidence, to knowing exactly which variants are involved,” Hailiang Huang, PhD, a genetics instructor at Massachusetts General Hospital, associated scientist at the Broad Institute of MIT and Harvard, and the study’s coauthor, said in a news release.
A research team from the Wellcome Trust Sanger Institute, the Broad Institute of MIT and Harvard, and the GIGA Institute of the University of Liège conducted a large-scale genetic analysis of IBD patients to identify genetic variants possibly responsible for the disease.
They examined 94 genetic regions previously associated with IBD from 67,852 individuals. Using three statistical methods, researchers were able to pinpoint 18 regions that were actively involved in the disease.
“We have taken the biggest ever data set for IBD and applied careful statistics to narrow down to the individual genetic variants involved. Now we have a clearer picture of which genes do and do not play a role in the disease. We are zooming in on the genetic culprits of IBD,” said Jeffrey Barrett, the study’s coauthor from the Wellcome Trust Sanger Institute.
In addition to the potential development of new, targeted therapies, the findings could help improve the efficacy of existing ones.
“These results will help towards rational drug discovery for complex human diseases like IBD, and possibly for the development of personalized medicine by finding biomarkers for more effective prescription of existing drugs,” said Professor Michel Georges, the study’s coauthor from the GIGA Institute of the University of Liège.
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