Genetic study in Sardinia sheds new light on disease and immunity


Precision medicine – using genetic and other biological information to better tailor the treatment of disease – continues to offer intriguing promise. Recently, a team of researchers from the NIA-supported SardiNIA study reported significant progress in clarifying the influence of genetics on the immune system, with potential implications for the development of treatments for many self-induced diseases. immune. The scientists, originally from the Italian University of Sassari and the Institute for Genetic and Biomedical Research of the National Research Council, published their findings in Genetics of nature.

The SardiNIA study is taking place in a cluster of four hilltop towns above the widely open Sardinian coastline.

The SardiNIA study is made up of around 4,000 long-standing Sardinian volunteers. The Italian island, often described as a microcontinent, is home to geographically isolated genetic family trees that are over 8,000 years old with few mixtures of outside populations, making it ideal for research into the impact of expression of genes on health. Sardinia is also one of the world’s so-called “blue zone” cultures known for its healthy aging and longevity. Previous analyzes from the SardiNIA study identified gene associations with many variables that may contribute to anemia, gout, heart and kidney disease.

Using genome-wide association studies of blood samples from volunteers, the team clarified the influence of approximately 22 million DNA variants on blood levels of a number unprecedented (over 700) variables or traits of immune cells. The team found around 120 significant independent correlations or signals of specific DNA changes that affect more than 450 cell traits and identified other molecules important in the regulation of immune cells.

Overall, this study broadened the number of known genetic associations with traits of immune cells by almost 80%. About half of these genetic signals also overlapped with previously reported disease-related signals, primarily for autoimmune disorders. This genetic analysis has also revealed cases in which a known drug affects the risk of several diseases or several types of immune cells, sometimes in opposite directions. The data therefore provided a better understanding of the mechanisms underlying these associations and helped explain the efficacy, failure and side effects of certain treatments.

By providing a better biological understanding of how autoimmune diseases develop, these findings may inform the development of treatments. The findings may also guide future analyzes of how specific immune cells and molecules interact in autoimmune diseases such as multiple sclerosis, lupus, rheumatoid arthritis, ulcerative colitis, and type 1 diabetes.

This research was funded in part by the NIA intramural research program.

Reference: Orrù V, et al. Complex genetic signatures in immune cells underlie autoimmunity and inform therapy. Genetics of nature. 2020; 52 (10): 1036-1045. doi: 10.1038 / s41588-020-0684-4.

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