SORL1 variants and risk of late-onset Alzheimer's disease

Li, Yonghong, Rowland, Charles, Catanese, Joseph, Morris, John, Lovestone, Simon, O'Donovan, Michael Conlon ORCID: https://orcid.org/0000-0001-7073-2379, Goate, Alison, Owen, Michael John ORCID: https://orcid.org/0000-0003-4798-0862, Williams, John David and Grupe, Andrew 2008. SORL1 variants and risk of late-onset Alzheimer's disease. Neurobiology of Disease 29 (2) , pp. 293-296. 10.1016/j.nbd.2007.09.001

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Abstract

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.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Schools > Medicine Research Institutes & Centres > MRC Centre for Neuropsychiatric Genetics and Genomics (CNGG) Research Institutes & Centres > Neuroscience and Mental Health Research Institute (NMHII)
Subjects:	R Medicine > R Medicine (General)
Uncontrolled Keywords:	Alzheimer’s disease; Single nucleotide polymorphism; Haplotype; Association study; SORL1
Publisher:	Elsevier
ISSN:	0969-9961
Last Modified:	19 Oct 2022 10:49
URI:	https://orca.cardiff.ac.uk/id/eprint/25635

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