Evidence for an effect of single nucleotide polymorphisms inSORL1on cerebrospinal fluid markers of Alzheimer's disease

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Evaluation of: Alexopoulos P, Guo LH, Kratzer M, Westerteicher C, Kurz A, Perneczky R. Impact ofSORL1single nucleotide polymorphisms on Alzheimer's disease cerebrospinal fluid markers.Dement. Geriatr. Cogn. Disord.32, 164–170 (2011). This study explores the effect of previously reported SORL1 variants on cerebrospinal fluid (CSF) levels of Aβ1–42, phosphorylated tau181 and total tau in 100 nondemented people, 166 people with mild cognitive impairment and 87 people with probable Alzheimer's disease. In individuals with Alzheimer's disease, the A allele of single nucleotide polymorphism 23 and the T allele of single nucleotide polymorphism 24 were associated with lower CSF Aβ1–42, the latter association becoming marginally insignificant after correction for multiple testing. Both associations showed an interaction with the APOE genotype. There were no significant associations of SORL1 single nucleotide polymorphisms with CSF Aβ1–42 levels in the mild cognitive impairment group or with phosphorylated tau181 or total tau in any of the groups.

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