A study led by University of Michigan found that a newly created polygenic scoring system — one that weighs the combined effects of common genetic variants — can improve the ability to predict an individual’s risk of developing ALS.
The results are published in Neurology Genetics.
Researchers took the genotypes of 219 patients with ALS and 223 healthy individuals without ALS, and they constructed the polygenic scores from a genome-wide association study of more than 80,000 people. An independent Spanish study sample was also used to replicate the analysis.
Investigators found that people with ALS had higher average polygenic scores than healthy control individuals and that an increase in polygenic score was associated with higher odds of having ALS.
For the fraction of ALS cases caused by genetic factors, the researchers found that 4.1% were explained by a higher polygenic score. Additionally, mutations contributing to the polygenic score were present in genes involved in pathways and functions related to ALS disease progression and development.
