SORL1 is genetically associated with increased risk for late-onset Alzheimer disease in the Belgian population
| Autor: | Peter Paul De Deyn, Karolien Bettens, Nathalie Brouwers, Christine Van Broeckhoven, Kristel Sleegers, Sebastiaan Engelborghs |
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| Přispěvatelé: | Clinical sciences, Neurology |
| Rok vydání: | 2008 |
| Předmět: |
Male
SORL1 Population Single-nucleotide polymorphism Locus (genetics) Biology Polymorphism Single Nucleotide Genetic Heterogeneity Belgium Alzheimer Disease Risk Factors Genetics Humans Genetic Predisposition to Disease Membrane Transport Proteins/genetics Age of Onset Allele education Genotyping Alleles LDL-Receptor Related Proteins Genetics (clinical) Aged Medicine(all) Alzheimer Disease/genetics education.field_of_study Genetic heterogeneity Membrane Transport Proteins Middle Aged Case-Control Studies Female Allelic heterogeneity LDL-Receptor Related Proteins/genetics |
| Zdroj: | Human mutation |
| ISSN: | 1059-7794 |
| DOI: | 10.1002/humu.20725 |
| Popis: | SORL1 has recently been identified as a major genetic contributor to increased risk for late-onset Alzheimer disease (AD). Here we aimed at replicating this finding in a large, well-characterized group of 550 Belgian late-onset AD patients and 637 healthy control individuals using a gene-wide genotyping approach across the SORL1 locus. We observed significant associations, both for individual SNPs (SNPs 6, 8, 9, 10 and 27; p-values ranging from 0.001 to 0.040) and 3-SNP haplotypes (SNPs 5-6-7 and SNPs 25-26-27; p-values ranging from 0.008 to 0.035). Moreover, the associations at SNP 8, 9 and 10 represented a direct replication of the initial association data. Two signals in distinct regions of the gene were shown to be mutually independent, supporting allelic heterogeneity at the SORL1 locus in the Belgian population. Our findings confirm that genetic variants in SORL1 may be important risk factors for late-onset AD. |
| Databáze: | OpenAIRE |
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