Icelandic genome reveals previously unknown Parkinson’s risk

A new Icelandic pangenome has revealed a genetic variant linked to a sharply increased risk of Parkinson’s disease, mbl.is reports. Scientists at Íslensk erfðagreining have also developed a method that identifies more genetic variants than previously possible.

The findings were published in the journal Nature on Wednesday. The paper’s first authors are Guillaume Holley and Hannes Pétur Eggertsson, scientists at Íslensk erfðagreining.

The Icelandic pangenome was created from 788 chromosome sequences, including 698 from Iceland, and contains more than 50 million genetic variants. Unlike a conventional reference genome, it incorporates many different genetic sequences and provides a clearer picture of genetic diversity.

The researchers’ new analysis methods identified 6 per cent more genetic variants among Icelanders than older methods. One of them was a previously unidentified variant in the GBA1 gene, found among both Icelanders and Britons. 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 precise map of Icelanders’ genetic material than before. This allows us to find genetic variants that older methods did not detect and to examine more closely 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 disease and provide a stronger foundation for further research. Over time, the additional knowledge could also help identify people at increased risk of disease and support the development of new medicines.