Australia links genetic risk loci for 16 diseases to immune cells

Australian scientists published three studies in the journal Nature that linked genetic risk loci for 16 diseases to possible mechanisms in specific types of immune cells. A team from the Garvan Institute of Medical Research, the Murdoch Children's Research Institute, the University of New South Wales and other partners identified nearly 1,500 genes that may be involved in the development of cancer, immune and neurological diseases, News-Medical reports .

Data from millions of immune cells The studies became the first significant result of the TenK10K project, which aims to investigate genetic variation and gene activity in the immune cells of 10,000 people. At the first stage, scientists sequenced the genomes of nearly 2,000 Australians and measured gene activity in more than 5 million of their immune cells.

This made it possible to match tens of millions of genetic variants with the cell types in which they act and link them to 16 diseases and 44 blood traits. In particular, the researchers identified a variant that increases the expression of the OSM gene in natural killer cells — cells of the immune system — and is associated with an increased risk of intestinal disease.

More current news is available on the UA.News Telegram channel Telegram . Three levels of gene regulation The first study covered 21,000 genes and identified more than 180,000 common and rare effects of genetic variants on gene expression. Nearly 5,000 of these genes had not previously been linked to genetic influence on their activity in the largest previous whole-blood study.

The researchers also identified 893 genes associated with diseases or blood traits whose activity had not previously been linked to genetic variation. The second study focused on tandem DNA repeats — repetitive sequences important for gene regulation. The team identified more than 69,000 variants of such repeats associated with changes in gene expression, as well as more than 200 genes for which repetitive DNA sequences may explain genetic links to immune and blood indicators.

In the third study, scientists examined chromatin accessibility — the degree to which DNA in a cell is open or compacted. They identified more than 240,000 genetic variants associated with this indicator and linked more than 28,000 DNA regions to the genes they regulate. According to the team's estimate, chromatin accessibility analysis made it possible to explain the likely role of up to 23% more genetic loci associated with diseases than analysis of gene activity alone.