Polymorphism Rs2421943 of the Insulin-Degrading Enzyme Gene and the Risk of Late-Onset Alzheimer's Disease
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F67985904%3A_____%2F22%3A00560126" target="_blank" >RIV/67985904:_____/22:00560126 - isvavai.cz</a>
Alternative codes found
RIV/00216224:14310/22:00127713
Result on the web
<a href="https://asep.lib.cas.cz/arl-cav/cs/csg/?repo=crepo1&key=38706842811" target="_blank" >https://asep.lib.cas.cz/arl-cav/cs/csg/?repo=crepo1&key=38706842811</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.2174/1567205019666220302120950" target="_blank" >10.2174/1567205019666220302120950</a>
Alternative languages
Result language
angličtina
Original language name
Polymorphism Rs2421943 of the Insulin-Degrading Enzyme Gene and the Risk of Late-Onset Alzheimer's Disease
Original language description
Background: Insulin-degrading enzyme (IDE) is a widely distributed Zn2+-binding metalloprotease that cleaves multiple short and medium-sized peptides prone to form beta-structures. These include insulin and amyloid-beta peptides. Accumulation and fibrillation of amyloid-beta peptides leading to the formation of amyloid plaques is a characteristic sign of Alzheimer's disease (AD) pathology.nObjective: The study investigated the rs2421943 single nucleotide polymorphism (SNP) of the IDE gene as a risk factor for MCI (mild cognitive impairment) and AD.nMethods: Two independent groups of 1670 patients and controls were included. The AD group consisted of 595 patients and 400 controls, the MCI group involved 135 patients and 540 matched controls. PCR and restriction fragment length analysis were used to analyze the rs2421943 polymorphism. Using the miRBase and RNA22 prediction tools in silico indicated that the rs2421943 polymorphism is a potential target for a specific miRNA (hsa-miR-7110-5p).nResults: AG and GG genotypes of rs2421943 significantly increased the risk of AD, and the AG genotype increased the risk of MCI. It seems the G allele both increases the risk of AD and accelerates the transition through the MCI phase. In silico study revealed that rs2421943 is inside the sequence binding miRNA hsa-miR-7110-5p. The polymorphism could affect the rate of IDE pre-RNA (heterogeneous nuclear RNA, hnRNA) processing, resulting in slower translation, lower levels of IDE, deficient removal of amyloid-beta fragments, and greater risk of and/or accelerated progression of AD.nConclusion: GG and AG genotypes of the single nucleotide polymorphism rs2421943 of insulin-degrading enzyme gene increase the risk of AD and MCI.
Czech name
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Czech description
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Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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OECD FORD branch
30103 - Neurosciences (including psychophysiology)
Result continuities
Project
<a href="/en/project/NV18-04-00455" target="_blank" >NV18-04-00455: The role of CD36 gene in pathogenesis of Alzheimer´s disease</a><br>
Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace
Others
Publication year
2022
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Current Alzheimer Research
ISSN
1567-2050
e-ISSN
1875-5828
Volume of the periodical
19
Issue of the periodical within the volume
3
Country of publishing house
AE - UNITED ARAB EMIRATES
Number of pages
10
Pages from-to
236-245
UT code for WoS article
000836179200006
EID of the result in the Scopus database
2-s2.0-85128634714