The study team utilized novel genetic single nucleotide polymorphisms (SNPs) associating with the C9orf72 expansion to identify potential expansion carriers from large, genotyped patient cohorts in Europe and Finland.
‘Novel genetic tool helps identify specific genetic changes that are common among both frontotemporal lobar degeneration and ALS patients.’
The team was first to identify the SNP markers that separated C9orf72 expansion carriers from non-carriers using FinnGen information. It was found that SNP rs139185008 showed the strongest association with patients having a clinical diagnosis of FTLD and motor neuron disease ALS.
“This will help to evaluate the full potential of the rs139185008 as a novel genetic tool to identify C9orf72 repeat expansion carriers from large, population-based cohorts,” says Research Director Annakaisa Haapasalo from UEF’s A.I. Virtanen Institute for Molecular Sciences.
“This study might be the beginning of other future projects using the FinnGen database to explore genotype-phenotype associations among neurodegenerative diseases. Similar approach using specific SNPs as surrogate markers to detect repeat expansions may also prove useful in the case of other repeat expansion diseases,” says Professor Mikko Hiltunen From UEF’s Institute of Biomedicine.