A recent study reported significant association of late-onset Alzheimer's disease (LOAD) with multiple single nucleotide polymorphisms (SNPs) and haplotypes in SORL1, a neuronal sortilin-related receptor protein known to be involved in the trafficking and processing of amyloid precursor protein. Here we attempted to validate this finding in three large, well characterized case-control series. Approximately 2000 samples from the three series were individually genotyped for 12 SNPs, including the 10 reported significant SNPs and 2 that constitute the reported significant haplotypes. A total of 25 allelic and haplotypic association tests were performed. One SNP rs2070045 was marginally replicated in the three sample sets combined (nominal P = 0.035); however, this result does not remain significant when accounting for multiple comparisons. Further validation in other sample sets will be required to assess the true effects of SORL1 variants in LOAD. © 2007 Elsevier Inc. All rights reserved.
CITATION STYLE
Li, Y., Rowland, C., Catanese, J., Morris, J., Lovestone, S., O’Donovan, M. C., … Grupe, A. (2008). SORL1 variants and risk of late-onset Alzheimer’s disease. Neurobiology of Disease, 29(2), 293–296. https://doi.org/10.1016/j.nbd.2007.09.001
Mendeley helps you to discover research relevant for your work.