Promoter polymorphisms modulating HSPA5 expression may increase susceptibility to Taiwanese Alzheimer’s disease View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2008-11

AUTHORS

W.-C. Hsu, H.-K. Wang, L.-C. Lee, H.-C. Fung, J.-C. Lin, H.-P. Hsu, Y.-R. Wu, L.-S. Ro, F.-J. Hu, Y.-T. Chang, G.-J. Lee-Chen, C.-M. Chen

ABSTRACT

Endoplasmic reticulum (ER) chaperone heat shock 70 kDa protein 5 (HSPA5/GRP78) is known to be involved in the metabolism of amyloid precursor protein and neuronal death in Alzheimer's disease (AD) could arise from dysfunction of the ER. Through a case-control study and an expression assay, we investigated the association of HSPA5 -415 G/A (rs391957), -370 C/T (rs17840761) and -180 del/G (rs3216733) polymorphisms with Taiwanese AD. The overall genotype and allele frequency distribution at the completely linked -415 G/A and -180 del/G sites showed significant difference between AD cases and controls (P = 0.020 and 0.009, respectively). A decrease in risk of developing AD was demonstrated for -415 AA/-180 GG genotype [OR = 0.38, 95% confidence interval (CI) = 0.18-0.75, P = 0.007] and -415 A/-180 G allele (OR = 0.69, 95% CI = 0.51-0.91, P = 0.009). The HSPA5 transcriptional activity of the -415 A/-180 G allele was significantly lower than that of the -415 G/-180 del alleles, whereas induction of HSPA5 expression after ER stress was markedly increased in the cells with the -415 A/-180 G allele. Therefore, our preliminary results may suggest a protective role of the HSPA5 -415 A/-180 G allele in Taiwanese AD susceptibility. More... »

PAGES

1537

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/s00702-008-0117-5

DOI

http://dx.doi.org/10.1007/s00702-008-0117-5

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1010051126

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/18781276


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RDF/XML is a standard XML format for linked data.

curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1007/s00702-008-0117-5'


 

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