Icelandic genome reveals new Parkinson’s risk

Researchers at Íslensk erfðagreining, an Icelandic genetics company, have identified a genetic variant linked to a significantly increased risk of Parkinson’s disease, mbl.is reports.

The findings come from the first Icelandic pangenome, which the researchers assembled using a new method that can detect more genetic variants than earlier techniques. The results were published on Wednesday in the scientific journal Nature.

The paper’s first authors are Guillaume Holley and Hannes Pétur Eggertsson, researchers at Íslensk erfðagreining.

The pangenome was created from 788 chromosome sequences, including 698 from Iceland, and contains more than 50 million genetic variants. The researchers’ methods identified 6 per cent more variants among Icelanders than previous methods.

Among the findings was a previously unidentified variant in the GBA1 gene, which was found in Icelandic and British people. Icelandic carriers of the variant are more than seven times as likely as others to be diagnosed with Parkinson’s disease before the age of 60.

“With the Icelandic pangenome, we get a more accurate map of Icelanders’ genetic material than before. This enables us to find genetic variants that older methods did not detect and thereby better investigate how they are linked to diseases,” said Daníel Guðbjartsson, chief executive of Íslensk erfðagreining.

He said the aim was to use improved genetic information to increase understanding of the causes of diseases and create a stronger foundation for further research. Greater knowledge could eventually help identify people at increased risk of disease and provide information that could be used to develop new medicines.