ArticleNeurobiology of aging2012
The Alzheimer's associated 5' region of the SORL1 gene cis regulates SORL1 transcripts expression.
Article in Neurobiology of aging, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 18 citations in OpenAlex.
- In Alzheimer-prone brain regions, metabolism and risk-gene expression are strongly correlated.Brain communications · 2022Article
- Predicting Longitudinal Outcomes of Alzheimer's Disease via a Tensor-Based Joint Classification and Regression Model.Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing · 2020Article
- Group sparse reduced rank regression for neuroimaging genetic study.World wide web · 2019Article
- An alternative transcript of the Alzheimer's disease risk gene SORL1 encodes a truncated receptor.Neurobiology of aging · 2018Article
- Risk factor SORL1: from genetic association to functional validation in Alzheimer's disease.Acta neuropathologica · 2016Review
- Novel susceptibility loci for Alzheimer's disease.Future neurology · 2015Article
- Alzheimer disease (AD) specific transcription, DNA methylation and splicing in twenty AD associated loci.Molecular and cellular neurosciences · 2015Article
- Elucidating molecular phenotypes caused by the SORL1 Alzheimer's disease genetic risk factor using human induced pluripotent stem cells.Cell stem cell · 2015Article
- Protective effects of cyclosativene on H2O 2-induced injury in cultured rat primary cerebral cortex cells.Cytotechnology · 2015Article
- The SORL1 gene and convergent neural risk for Alzheimer's disease across the human lifespan.Molecular psychiatry · 2014Article
- Neuroprotective effects of farnesene against hydrogen peroxide-induced neurotoxicity in vitro.Cellular and molecular neurobiology · 2014Article
- Sortilin receptor 1 predicts longitudinal cognitive change.Neurobiology of aging · 2013Article
- Low-Rank Graph-Regularized Structured Sparse Regression for Identifying Genetic Biomarkers.IEEE transactions on big dataArticle
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
Abstract
SORL1 has been identified as a major contributor to late onset Alzheimer's disease (LOAD). We test whether genetic variability in the 5' of SORL1 gene modulates the risk to develop LOAD via regulation of SORL1-messenger ribonucleic acid (mRNA) expression and splicing. Two brain structures, differentially vulnerable to LOAD pathology, were examined in 144 brain samples from 92 neurologically normal individuals. The temporal cortex, which is more susceptible to Alzheimer's pathology, demonstrated ∼2-fold increase in SORL1-mRNA levels in carriers of the minor alleles at single nucleotide polymorphisms (SNPs), rs7945931 and rs2298525, compared with noncarriers. No genetic effect on total-SORL1-mRNA levels was detected in the frontal cortex. However, rs11600875 minor allele was associated with significantly increased levels of exon-2 skipping, but only in frontal cortex. No correlation of SORL1-mRNAs expression was found between frontal and temporal cortexes. Collectively, these indicate the brain region specificity of the genetic regulation of SORL1 expression. Our results suggest that genetic regulation of SORL1 expression plays a role in disease risk and may be responsible for the reported LOAD associations. Further studies to detect the actual pathogenic variant/s are necessary.
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