Literature DB >> 28131462

Gene-based association study of genes linked to hippocampal sclerosis of aging neuropathology: GRN, TMEM106B, ABCC9, and KCNMB2.

Yuriko Katsumata1, Peter T Nelson2, Sally R Ellingson3, David W Fardo4.   

Abstract

Hippocampal sclerosis of aging (HS-Aging) is a common neurodegenerative condition associated with dementia. To learn more about genetic risk of HS-Aging pathology, we tested gene-based associations of the GRN, TMEM106B, ABCC9, and KCNMB2 genes, which were reported to be associated with HS-Aging pathology in previous studies. Genetic data were obtained from the Alzheimer's Disease Genetics Consortium, linked to autopsy-derived neuropathological outcomes from the National Alzheimer's Coordinating Center. Of the 3251 subjects included in the study, 271 (8.3%) were identified as an HS-Aging case. The significant gene-based association between the ABCC9 gene and HS-Aging appeared to be driven by a region in which a significant haplotype-based association was found. We tested this haplotype as an expression quantitative trait locus using 2 different public-access brain gene expression databases. The HS-Aging pathology protective ABCC9 haplotype was associated with decreased ABCC9 expression, indicating a possible toxic gain of function.
Copyright © 2017 Elsevier Inc. All rights reserved.

Entities:  

Keywords:  CARTS; GWAS; KATP; PGRN; rs704180

Mesh：

Substances：

Year:  2017        PMID： 28131462      PMCID： PMC5385271          DOI： 10.1016/j.neurobiolaging.2017.01.003

Source DB:  PubMed          Journal:  Neurobiol Aging        ISSN： 0197-4580            Impact factor:   4.673


  59 in total

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Journal:  Neurology       Date:  2012-08-01       Impact factor: 9.910

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8.  Translating Alzheimer's disease-associated polymorphisms into functional candidates: a survey of IGAP genes and SNPs.

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