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- W2025332783 abstract "Genome wide association studies for Alzheimer's disease consistently showed an association with single nucleotide polymorphisms (SNPs) in the gene for phosphatidylinositol binding clathrin assembly protein (PICALM), being confirmed in a large cohort of neuropathologically verified AD cases and healthy control subjects. Because of the involvement of PICALM in cellular molecular trafficking, we hypothesized that dysfunctional PICALM SNPs may correlate with CSF Aß1-42 levels in AD. 202 AD patients (NINCDS-ADRDA criteria) underwent neuropsychological assessment, physical examination, CSF sampling, laboratory analysis, MR brain imaging, and genotyping. Differences in Aß1-42, total tau (t-tau) and hyperphosphorylated tau (p-tau) CSF-levels between different PICALM SNPs were calculated using analyses of covariance with the respective SNP as fixed factor, and Aß1-42, t-tau and p-tau as dependent factors, being gender, age, and MMSE score the cofactors. Subjects exhibiting e2 allele(s) of the APOE gene were excluded because of the protective role of the e2-allele in AD pathogenesis. Significant main effect of any SNP (p<0.05) was followed up by pair-wise group comparison. Eight PICALM SNPs were used as fixed factors and contrasts were defined as dominant and recessive models. When using PICALM SNPs as fixed factors, significant differences for CSF Aß1-42 were found for the SNP rs636848 [AA: 426.9±155.2 pg/ml; AT/TT: 362.2±134.2; p = 0.047] and the SNP rs638509 [CC/CT: 538.8±230.3 pg/ml; TT: 398.2±140.5; p = 0.022], even after controlling for age, gender, and MMSE. These differences were present only in APOE e4 carriers but not in the APOE e4 non-carrier group of AD patients. We demonstrate significant associations between CSF Aß1-42 levels and two PICALM SNPs in AD patients. Since CSF Aß levels inversely correlate with brain fibrillar Aß load, our finding supports the notion of a pathophysiological role of the PICALM gene, likely by modulating the accumulation of Aß in the brain. Interestingly, the association between CSF Aß1-42 levels and PICALM SNPs only was present in ApoE e4 carriers. However, the PICALM SNPs that were associated with CSF Aß levels in our study were others than previously identified having more impact on AD risk. In summary, our study does not only support a pathophysiological role of the PICALM gene in AD, moreover it emphasizes the importance of its interaction with other genes, particularly APOE." @default.
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- W2025332783 date "2011-07-01" @default.
- W2025332783 modified "2023-10-16" @default.
- W2025332783 title "O3-01-07: PICALM single nucleotide polymorphisms are associated with CSF Aβ1-42 levels in patients with Alzheimer's dementia" @default.
- W2025332783 doi "https://doi.org/10.1016/j.jalz.2011.05.2391" @default.
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