Rs4878104 contributes to Alzheimer’s disease risk and regulates DAPK1 gene expression View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2017-07

AUTHORS

Yang Hu, Liang Cheng, Ying Zhang, Weiyang Bai, Wenyang Zhou, Tao Wang, Zhifa Han, Jian Zong, Shuilin Jin, Jun Zhang, Qinghua Jiang, Guiyou Liu

ABSTRACT

In 2006, a candidate gene study reported death-associated protein kinase 1 (DAPK1) rs4878104 variant to be significantly associated with Alzheimer's disease (AD) risk. However, the following studies showed inconsistent association results. Here, we conducted an updated analysis to investigate the potential association between rs4878104 and AD using a total of 60,751 samples (20,161 AD cases and 40,590 controls). In the pooled population, the results based on the allele and genotype genetic models show that rs4878104 variant is not significantly associated with AD risk. Interestingly, we identified rs4878104 variant to be significantly associated with AD risk in American population and Chinese population in subgroup analysis. Using multiple large-scale expression quantitative trait loci datasets, we further found that rs4878104 T allele could significantly regulate increased DAPK1 expression in European population. These findings suggest that rs4878104 may contribute AD susceptibility by modifying DAPK1 expression in European population. More... »

PAGES

1255-1262

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  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1007/s10072-017-2959-9

    DOI

    http://dx.doi.org/10.1007/s10072-017-2959-9

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1084993841

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/28429084


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