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- W2038541229 abstract "Recently, single nucleotide polymorphisms (SNPs) in two distinct regions of the SORL1 gene (bounded by consecutively numbered SNPs 8–10 and 22–25, respectively) were shown to be associated with AD in multiple ethnically diverse samples. We hypothesized that SORL1 may be associated with brain MRI measurements of atrophy and/or vascular disease. We evaluated association of 30 SNPs spanning SORL1 with MRI measures of general cerebral atrophy (CA), hippocampal atrophy (HA), white matter hyperintensities (WMH), and overall cerebrovascular disease (CVR) in 44 African American and 182 Caucasian sibships from the MIRAGE Study. Single SNP and 3-SNP haplotype association analyses were carried out using family-based tests. Haplotypes found to be significantly associated with at least one MRI trait were tested for association with six pathology traits in a separate sample of 69 autopsy-confirmed Caucasian AD patients. In Caucasians, WMH was associated with multiple markers in the region encompassing SNPs 6–10, while CA and HA were associated with markers from the region including SNPs 21–26. Examination of specific 3-SNP haplotypes from these two regions in the autopsy-confirmed AD cases showed association of white matter disease (WMD) with SNPs 8–10 (global p=0.030) and association of HA with all windows of SNPs 22–26 (global p-values = 0.014, 0.0091, 0.0076, and 0.024, respectively). Of note, the same SNP 8–10 haplotype (CGC) was associated with decreased WMD in the clinical (p=0.0005) and autopsy (p=0.02) samples. Stratification of families according to the WMH score of the AD proband above or below the median of all probands resulted in significant associations of SORL1—SNP haplotype 16–18 (global p=0.026) and SNP 17 in particular (p=0.008)—with AD in the low WMH families. Of note, SORL1 is not associated with AD in the high WMH families or in the total dataset. SORL1 variants previously associated with AD are also associated with MRI and neuropathological measures of neurodegenerative and cerebrovascular disease. These findings support not only the hypothesis of multiple areas in SORL1 of functional importance, but also raise the possibility that multiple SORL1 variants influence APP or endothelial lipoprotein processing or both in different brain regions." @default.
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- W2038541229 date "2008-07-01" @default.
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- W2038541229 title "O2-06-08: Distinct variants in SORL1 are associated with cerebrovascular and neurodegenerative changes related to Alzheimer's disease" @default.
- W2038541229 doi "https://doi.org/10.1016/j.jalz.2008.05.356" @default.
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