Single Nucleotide Polymorphism rs11136000 of CLU Gene
(Clusterin, ApoJ) and the Risk of Late-Onset Alzheimer's
Disease in a Central European Population

J 2021

Single Nucleotide Polymorphism rs11136000 of CLU Gene (Clusterin, ApoJ) and the Risk of Late-Onset Alzheimer's Disease in a Central European Population

BALCAR, Vladimír Josef; Tomáš ZEMAN; Vladimír JANOUT; Jana JANOUTOVÁ; Jan LOCHMAN et al.

Základní údaje

Originální název

Single Nucleotide Polymorphism rs11136000 of CLU Gene (Clusterin, ApoJ) and the Risk of Late-Onset Alzheimer's Disease in a Central European Population

Autoři

BALCAR, Vladimír Josef; Tomáš ZEMAN; Vladimír JANOUT; Jana JANOUTOVÁ; Jan LOCHMAN a Omar ŠERÝ

Vydání

Neurochemical Research, New Yorku, Springer Science+Business Media, Inc. 2021, 0364-3190

Další údaje

Jazyk

angličtina

Typ výsledku

Článek v odborném periodiku

Obor

10608 Biochemistry and molecular biology

Stát vydavatele

Spojené státy

Utajení

není předmětem státního či obchodního tajemství

Odkazy

URL

Impakt faktor

Impact factor: 4.414

Označené pro přenos do RIV

Ano

Kód RIV

RIV/00216224:14310/21:00120948

Organizační jednotka

Přírodovědecká fakulta

Klíčová slova anglicky

Clusterin; Late-onset Alzheimer’ s disease; Mild cognitive impairment; Single nucleotide polymorphism; Neurodegeneration; Neuroprotection; Genetic risk

Štítky

14313050, rivok

Příznaky

Mezinárodní význam, Recenzováno

Změněno: 16. 1. 2022 10:59, prof. RNDr. Omar Šerý, Ph.D.

Anotace

ORIG CZ

V originále

Clusterin (CLU; also known as apolipoprotein J, ApoJ) is a protein of inconstant structure known to be involved in diverse processes inside and outside of brain cells. CLU can act as a protein chaperon or protein solubilizer, lipid transporter as well as redox sensor and be anti- or proapoptotic, depending on context. Primary structure of CLU is encoded by CLU gene which contains single nucleotide polymorphisms (SNP's) associated with the risk of late-onset Alzheimer's disease (LOAD). Studying a sample of Czech population and using the case-control association approach we identified C allele of the SNP rs11136000 as conferring a reduced risk of LOAD, more so in females than in males. Additionally, data from two smaller subsets of the population sample suggested a possible association of rs11136000 with diabetes mellitus. In a parallel study, we found no association between rs11136000 and mild cognitive impairment (MCI). Our findings on rs11136000 and LOAD contradict those of some previous studies done elsewhere. We discuss the multiple roles of CLU in a broad range of molecular mechanisms that may contribute to the variability of genetic studies of CLU in various ethnic groups. The above discordance notwithstanding, our conclusions support the association of rs1113600 with the risk of LOAD.

Česky

Clusterin (CLU; také známý jako apolipoprotein J, ApoJ) je protein o kterém je známo, že se účastní různých procesů uvnitř i vně mozkových buněk. CLU může působit jako proteinový chaperon nebo proteinový solubilizátor, přenašeč lipidů i redoxní senzor a může být anti- nebo proapoptotický, v závislosti na kontextu. Primární struktura CLU je kódována genem CLU, který obsahuje jednonukleotidové polymorfismy (SNP) spojené s rizikem pozdního nástupu Alzheimerovy choroby (LOAD). Studiem vzorku české populace a použitím asociačního přístupu case-control jsme identifikovali alelu C SNP rs11136000 jako snižující riziko LOAD, více u žen než u mužů. Data ze dvou menších podskupin populačního vzorku navíc naznačovala možnou souvislost rs11136000 s diabetes mellitus. V paralelní studii jsme nenašli žádnou souvislost mezi rs11136000 a mírnou kognitivní poruchou (MCI). Diskutujeme mnohočetné role CLU v široké škále molekulárních mechanismů, které mohou přispívat k variabilitě genetických studií CLU v různých etnických skupinách. Bez ohledu na výše uvedené neshody naše závěry podporují spojení rs1113600 s rizikem LOAD.

Citovat

BALCAR, Vladimír Josef; Tomáš ZEMAN; Vladimír JANOUT; Jana JANOUTOVÁ; Jan LOCHMAN a Omar ŠERÝ. Single Nucleotide Polymorphism rs11136000 of CLU Gene (Clusterin, ApoJ) and the Risk of Late-Onset Alzheimer's Disease in a Central European Population. Neurochemical Research. New Yorku: Springer Science+Business Media, Inc., 2021, roč. 46, č. 2, s. 411-422. ISSN 0364-3190. Dostupné z: https://doi.org/10.1007/s11064-020-03176-y.

@article{1726356,
   author = {Balcar, Vladimír Josef and Zeman, Tomáš and Janout, Vladimír and Janoutová, Jana and Lochman, Jan and Šerý, Omar},
   article_location = {New Yorku},
   article_number = {2},
   doi = {https://doi.org/10.1007/s11064-020-03176-y},
   keywords = {Clusterin; Late-onset Alzheimer’ s disease; Mild cognitive impairment; Single nucleotide polymorphism; Neurodegeneration; Neuroprotection; Genetic risk},
   language = {eng},
   issn = {0364-3190},
   journal = {Neurochemical Research},
   title = {Single Nucleotide Polymorphism rs11136000 of CLU Gene (Clusterin, ApoJ) and the Risk of Late-Onset Alzheimer's Disease in a Central European Population},
   url = {https://doi.org/10.1007/s11064-020-03176-y},
   volume = {46},
   year = {2021}
}

TY  - JOUR
ID  - 1726356
AU  - Balcar, Vladimír Josef - Zeman, Tomáš - Janout, Vladimír - Janoutová, Jana - Lochman, Jan - Šerý, Omar
PY  - 2021
TI  - Single Nucleotide Polymorphism rs11136000 of CLU Gene (Clusterin, ApoJ) and the Risk of Late-Onset Alzheimer's Disease in a Central European Population
JF  - Neurochemical Research
VL  - 46
IS  - 2
SP  - 411-422
EP  - 411-422
PB  - Springer Science+Business Media, Inc.
SN  - 03643190
KW  - Clusterin
KW  - Late-onset Alzheimer’ s disease
KW  - Mild cognitive impairment
KW  - Single nucleotide polymorphism
KW  - Neurodegeneration
KW  - Neuroprotection
KW  - Genetic risk
UR  - https://doi.org/10.1007/s11064-020-03176-y
L2  - https://doi.org/10.1007/s11064-020-03176-y
N2  - Clusterin (CLU; also known as apolipoprotein J, ApoJ) is a protein of inconstant structure known to be involved in diverse processes inside and outside of brain cells. CLU can act as a protein chaperon or protein solubilizer, lipid transporter as well as redox sensor and be anti- or proapoptotic, depending on context. Primary structure of CLU is encoded by CLU gene which contains single nucleotide polymorphisms (SNP's) associated with the risk of late-onset Alzheimer's disease (LOAD). Studying a sample of Czech population and using the case-control association approach we identified C allele of the SNP rs11136000 as conferring a reduced risk of LOAD, more so in females than in males. Additionally, data from two smaller subsets of the population sample suggested a possible association of rs11136000 with diabetes mellitus. In a parallel study, we found no association between rs11136000 and mild cognitive impairment (MCI). Our findings on rs11136000 and LOAD contradict those of some previous studies done elsewhere. We discuss the multiple roles of CLU in a broad range of molecular mechanisms that may contribute to the variability of genetic studies of CLU in various ethnic groups. The above discordance notwithstanding, our conclusions support the association of rs1113600 with the risk of LOAD.
ER  -

BALCAR, Vladimír Josef; Tomáš ZEMAN; Vladimír JANOUT; Jana JANOUTOVÁ; Jan LOCHMAN a Omar ŠERÝ. Single Nucleotide Polymorphism rs11136000 of CLU Gene (Clusterin, ApoJ) and the Risk of Late-Onset Alzheimer's Disease in a Central European Population. \textit{Neurochemical Research}. New Yorku: Springer Science+Business Media, Inc., 2021, roč.~46, č.~2, s.~411-422. ISSN~0364-3190. Dostupné z: https://doi.org/10.1007/s11064-020-03176-y.

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