A rare variant in the sortilin-related receptor 1 gene is associated with declined cognitive functions in the elderly

Stepanov V.A.; Bocharova A.V.; Vagaitseva K.V.; Marusin A.V.; Markova V.V.; Minaicheva L.I.; Zhukova I.A.; Zhukova N.G.; Alifirova V.M.; Makeeva O.A.

doi:https://doi.org/10.17116/jnevro20181185192

Stepanov V.A.

Institute of Medical Genetics, Tomsk National Medical Research Centre, Tomsk, Russia;
Tomsk State University, Tomsk, Russia

Bocharova A.V.

Institute of Medical Genetics, Tomsk National Medical Research Centre, Tomsk, Russia

Vagaitseva K.V.

Institute of Medical Genetics, Tomsk National Medical Research Centre, Tomsk, Russia;
Tomsk State University, Tomsk, Russia

Marusin A.V.

Institute of Medical Genetics, Tomsk National Medical Research Centre, Tomsk, Russia

Markova V.V.

South Ural State Medical University, Chelyabinsk, Russia

Minaicheva L.I.

Institute of Medical Genetics, Tomsk National Medical Research Centre, Tomsk, Russia;
Nebbiolo Centre for Clinical Trials, Tomsk, Russia

Zhukova I.A.

Siberian State Medical University, Tomsk

Zhukova N.G.

Siberian State Medical University, Tomsk, Russia

Alifirova V.M.

Sibirskiĭ gosudarstvennyĭ meditsinskiĭ universitet, Tomsk, Russia

SPIN RSCI: 3824-1016
Scopus AuthorID: 6507431329
ORCID: 0000-0002-4140-3223

Makeeva O.A.

Institute of Medical Genetics, Tomsk National Medical Research Centre, Tomsk, Russia;
Nebbiolo Centre for Clinical Trials, Tomsk, Russia

A rare variant in the sortilin-related receptor 1 gene is associated with declined cognitive functions in the elderly

Authors:

Stepanov V.A., Bocharova A.V., Vagaitseva K.V., Marusin A.V., Markova V.V., Minaicheva L.I., Zhukova I.A., Zhukova N.G., Alifirova V.M., Makeeva O.A.

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Journal: S.S. Korsakov Journal of Neurology and Psychiatry. 2018;118(5): 92‑95

DOI: 10.17116/jnevro20181185192

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To cite this article:

Stepanov VA, Bocharova AV, Vagaitseva KV, et al. . A rare variant in the sortilin-related receptor 1 gene is associated with declined cognitive functions in the elderly. S.S. Korsakov Journal of Neurology and Psychiatry. 2018;118(5):92‑95. (In Russ.)
https://doi.org/10.17116/jnevro20181185192

Подписка 2026 Журнал неврологии и психиатрии им. С.С. Корсакова (S.S. Korsakov Journal of Neurology and Psychiatry)

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Abstract:

Objective. To estimate the association of rs11218343 in the sortilin-related receptor 1 (SORL1) gene with cognitive performance in the elderly and with Alzheimer’s disease (AD) in the Russian population. Material and methods. A sample included 586 elderly people (mean age 70.9±5.7 years) without AD diagnosis and 100 patients with late-onset AD (mean age 72.1±7.8 years) from the Tomsk population. SORL1 rs11218343 was genotyped using PCR and MALDI-TOF mass spectrometry. Cognitive performance in the sample of elderly without AD was assessed by Montreal Cognitive Assessment (MoCA) test. Results. Allele frequencies of the SORL1 polymorphism were not significantly different between the elderly without AD and AD patients. However mean MoCA score in the carriers of the rare allele (19.00±6.61) was significantly lower than in homozygotes for the common variant (22.25±3.89) (F=4.97; p=0.026). Conclusion. The rare variant in SORL1 gene previously associated with AD in genome-wide association studies and meta-analyses was associated with lower total МоСА scores in the random sample of elderly people that suggests declined cognitive functions in the carriers of this variant in elderly.

Keywords:

cognitive performance

Alzheimer’s disease

SORL1 gene

Authors:

Stepanov V.A.

Institute of Medical Genetics, Tomsk National Medical Research Centre, Tomsk, Russia;
Tomsk State University, Tomsk, Russia

Bocharova A.V.

Institute of Medical Genetics, Tomsk National Medical Research Centre, Tomsk, Russia

Vagaitseva K.V.

Institute of Medical Genetics, Tomsk National Medical Research Centre, Tomsk, Russia;
Tomsk State University, Tomsk, Russia

Marusin A.V.

Institute of Medical Genetics, Tomsk National Medical Research Centre, Tomsk, Russia

Markova V.V.

South Ural State Medical University, Chelyabinsk, Russia

Minaicheva L.I.

Institute of Medical Genetics, Tomsk National Medical Research Centre, Tomsk, Russia;
Nebbiolo Centre for Clinical Trials, Tomsk, Russia

Zhukova I.A.

Siberian State Medical University, Tomsk

Zhukova N.G.

Siberian State Medical University, Tomsk, Russia

Alifirova V.M.

Sibirskiĭ gosudarstvennyĭ meditsinskiĭ universitet, Tomsk, Russia

SPIN RSCI: 3824-1016
Scopus AuthorID: 6507431329
ORCID: 0000-0002-4140-3223

Makeeva O.A.

Institute of Medical Genetics, Tomsk National Medical Research Centre, Tomsk, Russia;
Nebbiolo Centre for Clinical Trials, Tomsk, Russia

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