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Autoimmune diseases

Autoimmune diseases arise when immune cells start attacking the body’s own cells.Credit: Kateryna Kon / Science Photo Library / Getty images

A new high-resolution genome-wide association study (GWAS) in Italy has revealed genetic variations that can affect autoimmune disease propensity.

The research has increased the number of genetic variants known to be involved in the regulation of specific immune cell types, and identified novel targets for treatment.

A group of researchers at the Italian National Research Council in Rome, led by Francesco Cucca, profiled 731 immune cell traits in 3,757 Sardinians participating in the long-term SardiNIA study. This included cell numbers, ratios of cell types, surface antigen levels and cell morphology.

The population of the Mediterranean island is of particular interest to geneticists be-cause it is relatively homogenous.

They identified 122 variations at 70 genetic regions with independent links to 459 immune cell traits. A total of 53 variations overlapped with previously reported associations with autoimmune disease risks, including multiple sclerosis, lupus, rheumatoid arthritis, ulcerative colitis, type 1 diabetes, and Kawasaki disease.

By identifying which of the variations also influenced gene expression and protein levels, the group were better able to zoom in on the causative genes likely to affect immune cell traits linked to variations in disease risks. They found 24 of these proteins were possible drug targets.

They hope this approach could prevent the costly failure of drug research and development based on therapeutic hypotheses that misidentify the consequences of diseases as causes.

“A better understanding of the relationships between levels of immune cell subtypes, their proteins and disease risk, based on unbiased genetic observations, can form the basis for more effective new treatments, and for existing drugs to be repurposed to treat new conditions,” said Cucca.