Genetic loci associated with Alzheimer's disease and cerebrospinal fluid biomarkers in a Finnish case–control cohort
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OBJECTIVES: To understand the relation between risk genes for Alzheimer's disease (AD) and their influence on biomarkers for AD, we examined the association of AD in the Finnish cohort with single nucleotide polymorphisms (SNPs) from top AlzGene loci, genome-wide association studies (GWAS), and candidate gene studies; and tested the correlation between these SNPs and AD markers Aβ(1-42), total tau (t-tau), and phosphorylated tau (p-tau) in cerebrospinal fluid (CSF). METHODS: We tested 25 SNPs for genetic association with clinical AD in our cohort comprised of 890 AD patients and 701-age matched healthy controls using logistic regression. For the correlational study with biomarkers, we tested 36 SNPs in a subset of 222 AD patients with available CSF using mixed models. Statistical analyses were adjusted for age, gender and APOE status. False discovery rate for multiple testing was applied. All participants were from academic hospital and research institutions in Finland. RESULTS: APOE-ε4, CLU rs11136000, and MS4A4A rs2304933 correlated with significantly decreased Aβ(1-42) (corrected p<0.05). At an uncorrected p<0.05, PPP3R1 rs1868402 and MAPT rs2435211 were related with increased t-tau; while SORL1 rs73595277 and MAPT rs16940758, with increased p-tau. Only TOMM40 rs2075650 showed association with clinical AD after adjusting for APOE-ε4 (p = 0.007), but not after multiple test correction (p>0.05). CONCLUSIONS: We provide evidence that APOE-ε4, CLU and MS4A4A, which have been identified in GWAS to be associated with AD, also significantly reduced CSF Aβ1-42 in AD. None of the other AlzGene and GWAS loci showed significant effects on CSF tau. The effects of other SNPs on CSF biomarkers and clinical AD diagnosis did not reach statistical significance. Our findings suggest that APOE-ε4, CLU and MS4A4A influence both AD risk and CSF Aβ1-42.
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The TOMM40 gene, and by extension its protein product, could potentially impact LOAD.
“from a strict association perspective it does appear that the TOMM40 gene, and by extension its protein product, could potentially impact LOAD.”
From The Alzheimer’s disease mitochondrial cascade hypothesis: progress and perspectives (2014) · cites this paper as [150]
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- Authors
- Elias-Sonnenschein, L. S., Helisalmi, S., Natunen, T., Hall, A., Paajanen, T., Herukka, S.-K., Laitinen, M., Remes, A. M., Koivisto, A. M., Mattila, K. M., Lehtimäki, T., Verhey, F. R. J., Visser, P. J., Soininen, H., & Hiltunen, M.
- Affiliations
- Maastricht University (NL)
- University of Eastern Finland (FI)
- Tampere University (FI)
- Corresponding author
- Helisalmi, Seppo
- ORCID
- Venue
- PLoS ONE
- Publisher
- Public Library of Science (PLoS)
- Published
- 2013-04-03
- Volume
- 8
- Issue
- 4
- Pages
- e59676
- ISSN
- 1932-6203 (ISSN-L)
- PMC
- PMC3616106
- OpenAlex
- W2018880103
- Cited by
- 70
- References
- 52
- Citations by year
- 2026: 2 · 2025: 2 · 2024: 3 · 2023: 3 · 2022: 2 · 2021: 4 · 2020: 2 · 2019: 2 · 2018: 7 · 2017: 7 · 2016: 8 · 2015: 10 · 2014: 15 · 2013: 3
- FWCI
- 8.36
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Locations
- PLoS ONE (publishedVersion, cc-by)
- Europe PMC (PubMed Central) (publishedVersion, other-oa)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- Research Publications (Maastricht University) (publishedVersion, cc-by)
- Pure Amsterdam UMC (publishedVersion)
- Amsterdam UMC (VU Amsterdam) - Institutional Repository (publishedVersion)
- Tampere University Institutional Repository (Tampere University) (publishedVersion)
- Tampere University Institutional Repository (Tampere University) (submittedVersion)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
- Research Publications (Maastricht University) (submittedVersion, other-oa)
- Data Archiving and Networked Services (DANS) (submittedVersion, other-oa)
- Data Archiving and Networked Services (DANS) (submittedVersion)
- Funders
- Itä-Suomen Yliopisto (5772708)
- Finska Läkaresällskapet
- EU Joint Programme – Neurodegenerative Disease Research
- Kuopion Yliopistollinen Sairaala (5772708)
- Internationale Stichting Alzheimer Onderzoek
- Tays (9N035)
- Alzheimer Nederland
- Topics
- Health Sciences › Medicine › Physiology › Alzheimer's disease research and treatments
- Health Sciences › Medicine › Psychiatry and Mental health › Dementia and Cognitive Impairment Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Keywords
- Alzheimer's disease, genetic susceptibility loci, single nucleotide polymorphisms, cerebrospinal fluid biomarkers, amyloid-beta 42, total tau, phosphorylated tau, APOE ε4, clusterin, MS4A4A, TOMM40, SORL1, MAPT, PPP3R1, Finnish population, genetic association
- MeSH terms
- Aged, Alzheimer Disease, Female, Finland, Humans, Male, Membrane Proteins, Middle Aged, Peptide Fragments, Phosphorylation, Protein Processing, Post-Translational, Risk Factors, Biomarkers, Logistic Models, Case-Control Studies, Amyloid beta-Peptides, tau Proteins, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide, Clusterin, Apolipoprotein E4, Genome-Wide Association Study, Genetic Loci
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