1. [A rare variant in the sortilin-related receptor 1 gene is associated with declined cognitive functions in the elderly].
- Author
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Stepanov VA, Bocharova AV, Vagaitseva KV, Marusin AV, Markova VV, Minaicheva LI, Zhukova IA, Zhukova NG, Alifirova VM, and Makeeva OA
- Subjects
- Adaptor Proteins, Vesicular Transport, Aged, Cognition, Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Middle Aged, Polymorphism, Single Nucleotide, Russia, Alzheimer Disease, LDL-Receptor Related Proteins genetics, Membrane Transport Proteins genetics
- Abstract
Aim: 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.
- Published
- 2018
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