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West Ashley Library
9 a.m. - 5 p.m.
Phone: (843) 766-6635
Wando Mount Pleasant Library
9 a.m. - 5 p.m.
Phone: (843) 805-6888
Village Library
9 a.m. - 1 p.m.
Phone: (843) 884-9741
St. Paul's/Hollywood Library
9 a.m. - 5 p.m.
Phone: (843) 889-3300
Otranto Road Library
9 a.m. - 5 p.m.
Phone: (843) 572-4094
Mt. Pleasant Library
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McClellanville Library
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Keith Summey North Charleston Library
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John's Island Library
9 a.m. - 5 p.m.
Phone: (843) 559-1945
Hurd/St. Andrews Library
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Folly Beach Library
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*open the 2nd and 4th Saturday
*open the 2nd and 4th Saturday
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Dorchester Road Library
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Phone: (843) 805-6930
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Clinical effects of novel susceptibility genes for beta-amyloid: a gene-based association study in the Korean population.
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- Author(s): Bo-Hyun Kim; HyunWoo Lee; Hongki Ham; Hee Jin Kim; Hyemin Jang; Jun Pyo Kim; Yu Hyun Park; Mansu Kim; Sang Won Seo
- Source:
Frontiers in Aging Neuroscience; 2023, p01-11, 11p- Subject Terms:
GENOMICS; ALZHEIMER'S disease; GENOME-wide association studies; RESEARCH funding; NEURODEGENERATION; MAGNETIC resonance imaging; POSITRON emission tomography; DESCRIPTIVE statistics; GENETIC polymorphisms; NUCLEOTIDES; COGNITION disorders; NEUROPSYCHOLOGICAL tests; DISEASE susceptibility; AMYLOID beta-protein precursor; GENETIC profile - Source:
- Additional Information
- Subject Terms:
- Abstract: Amyloid-beta (Aβ) is a pathological hallmark of Alzheimer's disease (AD). We aimed to identify genes related to Aβ uptake in the Korean population and investigate the effects of these novel genes on clinical outcomes, including neurodegeneration and cognitive impairments. We recruited a total of 759 Korean participants who underwent neuropsychological tests, brain magnetic resonance imaging, 18F-flutemetamol positron emission tomography, and microarray genotyping data. We performed gene-based association analysis, and also performed expression quantitative trait loci and network analysis. In genome-wide association studies, no single nucleotide polymorphism (SNP) passed the genome-wide significance threshold. In gene-based association analysis, six genes (LCMT1, SCRN2, LRRC46, MRPL10, SP6, and OSBPL7) were significantly associated with Aβ standardised uptake value ratio in the brain. The three most significant SNPs (rs4787307, rs9903904, and rs11079797) on these genes are associated with the regulation of the LCMT1, OSBPL7, and SCRN2 genes, respectively. These SNPs are involved in decreasing hippocampal volume and cognitive scores by mediating Aβ uptake. The 19 enriched gene sets identified by pathway analysis included axon and chemokine activity. Our findings suggest novel susceptibility genes associated with the uptake of Aβ, which in turn leads to worse clinical outcomes. Our findings might lead to the discovery of new AD treatment targets. [ABSTRACT FROM AUTHOR]
- Abstract: Copyright of Frontiers in Aging Neuroscience is the property of Frontiers Media S.A. and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
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