Scientists have identified nine genes that play a crucial role in increasing the risk of developing type 1 diabetes.
Only four of these genes have previously been associated with the disease. The findings could pave the way for new therapies to prevent and treat the condition.
What’s the Background?
In a new theory of disease genetics, genes are divided into two main categories: core genes, which directly influence the development of a disease, and regulator genes, which indirectly impact the disease through their interaction with core genes.
This is the first time core genes for type 1 diabetes have been identified.
How was the Research Conducted?
Researchers from the University of Edinburgh used an innovative approach to identify these core genes.
They examined the impact of common variants—alterations in the DNA sequence—on genes throughout the genome.
Humans share 99.9% identical genetic makeup, with the remaining 0.1% difference due to changes in the DNA sequence, including insertions, deletions, and substitutions.
These changes can affect gene function, with some more prevalent across the population than others.
Previous studies have mainly explored the short-range impact of these genetic changes on nearby genes, known as “cis-” effects.
The researchers investigated the long-range influences of variants on the activity of genes located further away, known as “trans-” effects.
When the long-range effects of several common variants were combined, their impact was found to focus on a small number of core genes.
This method could also be applied to detect core genes in other diseases where common variants are known to cause the disease.
What were the Findings?
Almost all of the identified genes are involved in the immune system. In type 1 diabetes, the immune system mistakenly attacks cells responsible for producing insulin, which regulates blood sugar levels.
The findings provide potential targets for new drugs to prevent or reverse the autoimmune damage to insulin-producing cells.
The researchers studied nearly 5,000 people diagnosed with type 1 diabetes and 7,500 healthy individuals in Scotland. The findings are published in the American Journal of Human Genetics.
Quoting the Researcher
Professor Paul McKeigue, one of the researchers, expressed that studying the long-range ‘trans-‘ effects of these risk variants on genes elsewhere on the genome identified core genes for type 1 diabetes, some of which are potential drug targets.
He noted that this approach could be a turning point in translating genetic discoveries into new drug development.
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The study was published in The American Journal of Human Genetics.
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