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Updated: Nov 3, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Novel Rare SORL1 Variants in Early-Onset Dementia
Anita Korpioja1,2, Johanna Krüger1,2, Susanna Koivuluoma3
1Research Unit of Clinical Neuroscience, Neurology, University of Oulu, Oulu, Finland.
Background:
Rare variants of SORL1 have been associated with an increased risk of early-onset or late-onset Alzheimer's disease (AD). However, a lot remains to be clarified about their significance in the pathogenesis of the disease.
Objective:
To evaluate the role of SORL1 variants among Finnish patients with early-onset AD (EOAD).
Methods:
The rare SORL1variants were screened in a cohort of 115 Finnish EOAD patients (mean age at onset 58.3 years, range 46-65 years) by using the whole-exome sequencing.
Results:
We found one novel nonsense variant (p.Gln290*) and eight missense variants in SORL1. This is the first study reporting the SORL1 variants p.Lys80Arg, p.Ala789Val and p.Arg866Gln in EOAD patients. Furthermore, two of these three missense variants were overrepresented in EOAD patients compared to gnomAD non-neuro Finnish samples.
Conclusion:
This study strengthens the earlier findings, that the rare variants in SORL1 are associated with EOAD.
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