The neuronal sortilin-related receptor SORL1 is genetically associated with Alzheimer disease
نویسندگان
چکیده
منابع مشابه
SORL1 Is Genetically Associated with Late-Onset Alzheimer’s Disease in Japanese, Koreans and Caucasians
To discover susceptibility genes of late-onset Alzheimer's disease (LOAD), we conducted a 3-stage genome-wide association study (GWAS) using three populations: Japanese from the Japanese Genetic Consortium for Alzheimer Disease (JGSCAD), Koreans, and Caucasians from the Alzheimer Disease Genetic Consortium (ADGC). In Stage 1, we evaluated data for 5,877,918 genotyped and imputed SNPs in Japanes...
متن کاملCoding mutations in SORL1 and Alzheimer disease.
OBJECTIVE Common single nucleotide polymorphisms in the SORL1 gene have been associated with late onset Alzheimer disease (LOAD), but causal variants have not been fully characterized nor has the mechanism been established. The study was undertaken to identify functional SORL1 mutations in patients with LOAD. METHODS This was a family- and cohort-based genetic association study. Caribbean His...
متن کاملPossible Association between SORL1 and Alzheimer Disease?
However, using a model restricted to elderly APOE 4 noncarriers, the association became somewhat stronger (SNP 8, p = 0.0163; SNP 24, p = 0.0375). More importantly, the associated variants in the study by Shibata et al. [1] were identical to those in the study by Rogaeva et al. [2] . For SNP 24, the T allele was associated with AD in Caucasians as well as in Japanese people. For SNP 8, the C al...
متن کاملAssociation of distinct variants in SORL1 with cerebrovascular and neurodegenerative changes related to Alzheimer disease.
BACKGROUND Single-nucleotide polymorphisms (SNPs) in 2 distinct regions of the gene for the sortilin-related receptor (SORL1) (bounded by consecutively numbered SNPs 8-10 and 22-25) were shown to be associated with Alzheimer disease (AD) in multiple ethnically diverse samples. OBJECTIVE To test the hypothesis that SORL1 is associated with brain magnetic resonance imaging (MRI) measurements of...
متن کاملSORL1 mutations in early- and late-onset Alzheimer disease
OBJECTIVE To characterize the clinical and molecular effect of mutations in the sortilin-related receptor (SORL1) gene. METHODS We performed whole-exome sequencing in early-onset Alzheimer disease (EOAD) and late-onset Alzheimer disease (LOAD) families followed by functional studies of select variants. The phenotypic consequences associated with SORL1 mutations were characterized based on cli...
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ژورنال
عنوان ژورنال: Nature Genetics
سال: 2007
ISSN: 1061-4036,1546-1718
DOI: 10.1038/ng1943