Polymorphism rs11867353 of Tyrosine Kinase Non-Receptor 1 (TNK1) Gene Is a Novel Genetic Marker for Alzheimer's Disease

0541168 - ÚŽFG 2022 RIV US eng J - Článek v odborném periodiku
Zeman, Tomáš - Balcar, Vladimír Josef - Cahová, K. - Janoutová, J. - Janout, V. - Lochman, Jan - Šerý, Omar
Polymorphism rs11867353 of Tyrosine Kinase Non-Receptor 1 (TNK1) Gene Is a Novel Genetic Marker for Alzheimer's Disease.
Molecular Neurobiology. Roč. 58, č. 3 (2021), s. 996-1005. ISSN 0893-7648. E-ISSN 1559-1182
Grant CEP: GA MZd(CZ) NV16-29900A
Institucionální podpora: RVO:67985904
Klíčová slova: genetic risk * dementia Alzheimer type * mild cognitive impairment
Obor OECD: Neurosciences (including psychophysiology
Impakt faktor: 5.686, rok: 2021
Způsob publikování: Omezený přístup
https://asep.lib.cas.cz/arl-cav/cs/csg/?repo=crepo1&key=13413502782

Several single-nucleotide polymorphisms (SNPs) and rare variants of non-receptor tyrosine kinase 1 gene (TNK1) have been associated with Alzheimer's disease (AD). To date, none of the associations have proven to be of practical importance in predicting the risk of AD either because the evidence is not conclusive, or the risk alleles occur at very low frequency. In the present study, we are evaluating the associations between rs11867353 polymorphism of TNK1 gene and both AD and mild cognitive impairment (MCI) in a group of 1656 persons. While the association with AD was found to be highly statistically significant (p < 0.0001 for the risk genotype CC), no statistically significant association with MCI could be established. Possible explanation of the apparent discrepancy could be rapid progression of MCI to AD in persons with the CC genotype. Additional findings of the study are statistically significant associations of rs11867353 polymorphism with body mass index, body weight, and body height. The patients with AD and CC genotype had significantly lower values of body mass index and body weight compared with patients with other genotypes. The main outcome of the study is the finding of a previously never described association between the rs11867353 polymorphism of the TNK1 gene and AD. The rs11867353 polymorphism has a potential to become a significant genetic marker when predicting the risk of AD.
Trvalý link: http://hdl.handle.net/11104/0318775