Scientists have reported progress on identifying the genetics of several immune-mediated diseases.
These diseases, which include autoimmune diseases, affect nearly 10% of the world’s population. Genome-wide association studies have already discovered thousands of genetic areas that influence susceptibility, according to the UK research team.
However, the gene variants that cause disease mostly remain unknown, say Dr Kousik Kundu of the Wellcome Sanger Institute and University of Cambridge, UK, and colleagues.
They carried out a study published in *Nature Genetics*. It involved ‘fine-mapping algorithms’, which estimate the probability of a genetic variant being causal.
The team identified 340 unique gene areas that appeared to be linked to causal genes. In particular, they evaluated possible causal genetic variants associated with inflammatory bowel disease.
Overall, they report, our findings suggest that fine mapping "can enhance the discovery of putative causal disease variants and enhance insights into the underlying causal genes and molecular mechanisms".
Dr Kundu said: “Identifying the genetic variants and how they cause a certain disease can be a very complex task.
"Our research shows that by including multiple layers of functional genetic information, you can help increase the probability of finding potential causal genetic variants, putative effector genes, and molecular mechanisms underpinning disease associations."
He added that the amount of information needed is much smaller than traditional association studies, making them more accessible to researchers.
Co-author Professor Nicole Soranzo, added: “Understanding more about the genetic variants that cause immune-mediated diseases is necessary if we are to develop drugs that can help treat these at a molecular level."
Kundu, K. et al. Genetic associations at regulatory phenotypes improve fine-mapping of causal variants for twelve immune-mediated diseases. *Nature Genetics* 14 March 2022; doi: 10.1038/s41588-022-01025-y
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