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- W2024482486 abstract "The biologic effects of mutations in the BRI2 (ITM2B) and APP genes support the hypothesis that cerebral accumulation of amyloidogenic peptides in familial British and familial Danish dementias and Alzheimer's disease (AD) is associated with neurodegeneration. Recent findings from T. Golde's laboratory (see Miller et al., these meetings) show that wild type BRI2 suppresses Aβ accumulation in a transgenic APP mouse model without altering Aβ production. Additional in vivo and in vitro data suggest that the effect is mediated by inhibition of Aβ aggregation by the Bri2–23 peptide. To evaluate the pathophysiologic significance of these findings, we analyzed 6 SNPs in the ITM2B gene for association with late onset AD in a large series of American Caucasians (1693 AD, 1891 Control). To determine if ITM2B genotypes are associated with altered expression of the ITM2B gene, ITM2B mRNA was analyzed in the cerebellum of 141 AD brains. The 6 ITM2B SNPs formed 8 haplotypes that showed significant global association (p=0.045) with AD. In subjects with an age at diagnosis/entry of 60–80 years (1050 AD, 1059 Controls), the significance of haplotypic association improved considerably despite the reduced number of subjects (global p = 0.006). In this age group, there were 14 ITM2B genotypes that occurred at least 10 times, each formed by a single haplotype pair with probability over 99%. The H1/H5 (p=0.039), H2/H2 (p=0.05), H1/H6 (p=0.051), and H2/H5 (p=0.14) genotypes showed significant or suggestive association with risky ORs of 2.1, 1.5, 2.7, and 3.0 respectively. Consistent with the results in transgenic mouse models, ITM2B mRNA levels were significantly increased by 32% in the 116 subjects with low risk genotypes as compared to the 25 subjects with high risk genotypes (p=0.02 by two sided Mann Whitney test). These results identify BRI2 as a novel factor that influences risk for AD by modulating Aβ aggregation and deposition." @default.
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- W2024482486 date "2008-07-01" @default.
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- W2024482486 title "P3-276: BRI2 (ITM2B) shows genetic association with late-onset Alzheimer's disease" @default.
- W2024482486 doi "https://doi.org/10.1016/j.jalz.2008.05.1844" @default.
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