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image/svg+xml Jakob Voss, based on art designer at PLoS, modified by Wikipedia users Nina and Beao Closed Access logo, derived from PLoS Open Access logo. This version with transparent background. http://commons.wikimedia.org/wiki/File:Closed_Access_logo_transparent.svg Jakob Voss, based on art designer at PLoS, modified by Wikipedia users Nina and Beao Neurobiology of Agin...arrow_drop_down
image/svg+xml Jakob Voss, based on art designer at PLoS, modified by Wikipedia users Nina and Beao Closed Access logo, derived from PLoS Open Access logo. This version with transparent background. http://commons.wikimedia.org/wiki/File:Closed_Access_logo_transparent.svg Jakob Voss, based on art designer at PLoS, modified by Wikipedia users Nina and Beao
image/svg+xml Jakob Voss, based on art designer at PLoS, modified by Wikipedia users Nina and Beao Closed Access logo, derived from PLoS Open Access logo. This version with transparent background. http://commons.wikimedia.org/wiki/File:Closed_Access_logo_transparent.svg Jakob Voss, based on art designer at PLoS, modified by Wikipedia users Nina and Beao
image/svg+xml Jakob Voss, based on art designer at PLoS, modified by Wikipedia users Nina and Beao Closed Access logo, derived from PLoS Open Access logo. This version with transparent background. http://commons.wikimedia.org/wiki/File:Closed_Access_logo_transparent.svg Jakob Voss, based on art designer at PLoS, modified by Wikipedia users Nina and Beao
NARCIS
Article . 2015
Data sources: NARCIS
image/svg+xml Jakob Voss, based on art designer at PLoS, modified by Wikipedia users Nina and Beao Closed Access logo, derived from PLoS Open Access logo. This version with transparent background. http://commons.wikimedia.org/wiki/File:Closed_Access_logo_transparent.svg Jakob Voss, based on art designer at PLoS, modified by Wikipedia users Nina and Beao
NARCIS
Article . 2015
Data sources: NARCIS
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The influence of genetic variants in SORL1 gene on the manifestation of Alzheimer's disease

Authors: Eva Louwersheimer; Alfredo Ramirez; Carlos Cruchaga; Tim Becker; Johannes Kornhuber; Oliver Peters; Stefanie Heilmann; +10 Authors

The influence of genetic variants in SORL1 gene on the manifestation of Alzheimer's disease

Abstract

We studied the association of SORL1 single-nucleotide polymorphisms genotypes with measures of pathology in patients with probable Alzheimer's disease (AD) using an endophenotype approach. We included (1) 133 patients from the German Dementia Competence Network (71 +/- 8 years; 50% females; Mini Mental State Examination [MMSE], 24 +/- 3); (2) 83 patients from the Alzheimer's Disease Neuroimaging Initiative (75 +/- 8 years; 45% females; MMSE, 24 +/- 2); and (3) 452 patients from the Amsterdam Dementia Cohort 66 +/- 8 years; 47% females; MMSE, 20 +/- 5). As endophenotype markers we used cognitive tests, cerebrospinal fluid (CSF) biomarkers amyloid-beta, total tau (tau), tau phosphorylated at threonine 181, and hippocampal atrophy. We measured 19 SORL1 SNP alleles. Genotype-endophenotype associations were determined by linear regression analyses. There was an association between rs2070045-G allele and increased CSF-tau and more hippocampal atrophy. Additionally, haplotype-based analyses revealed an association between haplotype rs11218340-A/rs3824966-G/rs3824968-A and higher CSF-tau and CSF-tau phosphorylated at threonine 181. In conclusion, we found that SORL1 SNP rs2070045-G allele was related to CSF-tau and hippocampal atrophy, 2 endophenotype markers of AD, suggesting that SORL1 may be implicated in the downstream pathology in AD.

Countries
Netherlands, Germany, Netherlands, Netherlands, Netherlands
Subjects by Vocabulary

Microsoft Academic Graph classification: Pathology SORL1 medicine.diagnostic_test Alzheimer's disease medicine.medical_specialty Single-nucleotide polymorphism Biology Internal medicine medicine Dementia Allele Mini–Mental State Examination Haplotype medicine.disease Endocrinology Endophenotype

Medical Subject Headings: mental disorders

Dewey Decimal Classification: ddc:610

Keywords

Male, Aging, genetics [Alzheimer Disease], cerebrospinal fluid [Amyloid beta-Peptides], Hippocampus, pathology [Alzheimer Disease], SORL1, genetics [Genetic Predisposition to Disease], Aged, 80 and over, genetics [Membrane Transport Proteins], General Neuroscience, diagnosis [Alzheimer Disease], Alzheimer's disease, Middle Aged, cerebrospinal fluid [Biomarkers], genetics [Polymorphism, Single Nucleotide], Female, genetics [LDL-Receptor Related Proteins], SNPs, Endophenotypes, tau Proteins, Polymorphism, Single Nucleotide, Alzheimer Disease, SORL1 protein, human, Humans, Genetic Predisposition to Disease, Phosphoric Acids, Alleles, Genetic Association Studies, LDL-Receptor Related Proteins, Aged, Amyloid beta-Peptides, Membrane Transport Proteins, Amides, pathology [Hippocampus], cerebrospinal fluid [tau Proteins], Neurology (clinical), Geriatrics and Gerontology, phosphoramidic acid, Biomarkers, Developmental Biology

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    36
    popularity
    This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
    Top 10%
    influence
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    Average
    impulse
    This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
    Top 10%
  • citations
    This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
    36
    popularity
    This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
    Top 10%
    influence
    This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
    Average
    impulse
    This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
    Top 10%
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citations
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
36
Top 10%
Average
Top 10%
Funded by
CIHR
Project
  • Funder: Canadian Institutes of Health Research (CIHR)
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