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Common and rare TBK1 variants in early-onset Alzheimer disease in a European cohort

The result's identifiers

  • Result code in IS VaVaI

    <a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F18%3A10376306" target="_blank" >RIV/00216208:11110/18:10376306 - isvavai.cz</a>

  • Alternative codes found

    RIV/00064190:_____/18:N0000035

  • Result on the web

    <a href="https://doi.org/10.1016/j.neurobiolaging.2017.10.012" target="_blank" >https://doi.org/10.1016/j.neurobiolaging.2017.10.012</a>

  • DOI - Digital Object Identifier

    <a href="http://dx.doi.org/10.1016/j.neurobiolaging.2017.10.012" target="_blank" >10.1016/j.neurobiolaging.2017.10.012</a>

Alternative languages

  • Result language

    angličtina

  • Original language name

    Common and rare TBK1 variants in early-onset Alzheimer disease in a European cohort

  • Original language description

    TANK-binding kinase 1 (TBK1) loss-of-function (LoF) mutations are known to cause frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS), often combined with memory deficits early in the disease course. We performed targeted resequencing of TBK1 in 1253 early onset Alzheimer&apos;s disease (EOAD) patients from 8 European countries to investigate whether pathogenic TBK1 mutations are enriched among patients with clinical diagnosis of EOAD. Variant frequencies were compared against 2117 origin-matched controls. We identified only 1 LoF mutation (p.Thr79del) in a patient clinically diagnosed with Alzheimer&apos;s disease and a positive family history of ALS. We did not observe enrichment of rare variants in EOAD patients compared to controls, nor of rare variants affecting NFκB induction. Of 3 common coding variants, rs7486100 showed evidence of association (OR 1.46 [95% CI 1.13-1.9]; p-value 0.01). Homozygous carriers of the risk allele showed reduced expression of TBK1 (p-value 0.03). Our findings are not indicative of a significant role for TBK1 mutations in EOAD. The association between common variants in TBK1, disease risk and reduced TBK1 expression warrants follow-up in FTD/ALS cohorts.

  • Czech name

  • Czech description

Classification

  • Type

    J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database

  • CEP classification

  • OECD FORD branch

    30109 - Pathology

Result continuities

  • Project

  • Continuities

    I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Others

  • Publication year

    2018

  • Confidentiality

    S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Data specific for result type

  • Name of the periodical

    Neurobiology of Aging

  • ISSN

    0197-4580

  • e-ISSN

  • Volume of the periodical

    62

  • Issue of the periodical within the volume

    February

  • Country of publishing house

    GB - UNITED KINGDOM

  • Number of pages

    7

  • Pages from-to

    "245e1"-"245e7"

  • UT code for WoS article

    000418478600027

  • EID of the result in the Scopus database

    2-s2.0-85035129689