4.5 Article

Novel Rare SORL1 Variants in Early-Onset Dementia

Journal

JOURNAL OF ALZHEIMERS DISEASE
Volume 82, Issue 2, Pages 761-770

Publisher

IOS PRESS
DOI: 10.3233/JAD-210207

Keywords

Dementia; early onset Alzheimer's disease; gene; human; mutation; neurodegenerative disease; single nucleotide polymorphism; SORL1

Categories

Funding

  1. Academy of Finland [307866, 315459]
  2. Sigrid Juselius Foundation
  3. University of Eastern Finland
  4. University of Oulu Scholarship Foundation
  5. Academy of Finland (AKA) [307866, 315459, 307866, 315459] Funding Source: Academy of Finland (AKA)

Ask authors/readers for more resources

This study evaluated the role of SORL1 variants among Finnish patients with early-onset Alzheimer's disease (EOAD) and found that several variants were more common in these patients, strengthening previous findings that rare variants in SORL1 are associated with EOAD.
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.

Authors

I am an author on this paper
Click your name to claim this paper and add it to your profile.

Reviews

Primary Rating

4.5
Not enough ratings

Secondary Ratings

Novelty
-
Significance
-
Scientific rigor
-
Rate this paper

Recommended

No Data Available
No Data Available