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Peer-reviewedCC BYDiseases (Basel, Switzerland)

Genetic Polymorphisms in SORL1, CLU, BIN1, and VDR Are Associated with Mild Cognitive Impairment and Dementia in a Russian Population.

  • Danil Peregud1
  • Olga Pavlova1
  • Konstantin Pavlov1
  • Kira Nebogina1
  • Yana Zorkina1,2
  • Olga Abramova1,2
  • Valeriya Ushakova1,2
  • Aleksandra Ochneva1,2
  • Eugene Zubkov1
  • Inna Shamakina1,3
  • Alisa Andryushchenko2,3
  • Georgy Kostyuk2,3,4
3 more authors
  • Anna Morozova1,2
  • Olga Gurina1
  • Vladimir Chekhonin1,5,6
6 affiliations
  1. 1V. Serbsky National Medical Research Centre of Psychiatry and Narcology, 119034 Moscow, Russia.
  2. 2Mental-Health Clinic No. 1 Named After N.A. Alekseev, 115191 Moscow, Russia.
  3. 3Faculty of Psychology, Lomonosov Moscow State University, 119991 Moscow, Russia.
  4. 4I. M. Sechenov First Moscow State Medical University (Sechenov University), 119435 Moscow, Russia.
  5. 5Department of Medical Nanobiotechnology, Institute for Translational Medicine, Pirogov Russian National Research Medical University, 117997 Moscow, Russia.
  6. 6Endocrinology Research Centre, 117292 Moscow, Russia.
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Abstract

Background

Mild cognitive impairment (MCI) is a transitional state between normal aging and dementia, and genetic factors may influence progression. This study aimed to identify genetic polymorphisms associated with MCI and dementia in a Russian population.Methods

A total of 280 participants were enrolled: Controls (n = 84), MCI (n = 94), and Dementia (n = 102). Fifteen single nucleotide polymorphisms in seven candidate genes (TOMM40, SORL1, BIN1, VDR, CLU, CR1, PICALM) were genotyped. Associations were tested using multinomial logistic regression adjusted for age and sex under four genetic models (codominant, dominant, recessive, overdominant). Multiple testing was controlled using the Benjamini-Hochberg false discovery rate (FDR) procedure. Deviation from Hardy-Weinberg equilibrium was observed for three SNPs in the Controls (SORL1 rs1010159, BIN1 rs7561528, rs10200967) and interpreted with caution.Results

Under the primary FDR correction (60 tests per contrast), only BIN1 polymorphisms remained significantly associated with dementia: rs7561528 (overdominant model: OR = 0.318, 95% CI = 0.162-0.624, p = 0.001, q = 0.0035) and rs10200967 (overdominant model: OR = 0.272, 95% CI = 0.136-0.544, p < 0.001, q < 0.007). Under the more conservative exploratory correction (150 tests), these associations were at the threshold of significance (q = 0.050).Conclusions

BIN1 rs7561528 and rs10200967 are associated with reduced odds of dementia in the Russian population. Nominally significant associations with SORL1, CLU, and VDR require replication in larger cohorts. The developed genotyping panel represents a cost-effective research tool for genetic screening; clinical implementation requires validation in larger prospective cohorts.

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Cite

BibTeXRIS
BibTeX
@article{peregud2026genetic,
  title = {{Genetic Polymorphisms in SORL1, CLU, BIN1, and VDR Are Associated with Mild Cognitive Impairment and Dementia in a Russian Population.}},
  author = {Danil Peregud and Olga Pavlova and Konstantin Pavlov and Kira Nebogina and Yana Zorkina and Olga Abramova and Valeriya Ushakova and Aleksandra Ochneva and Eugene Zubkov and Inna Shamakina and Alisa Andryushchenko and Georgy Kostyuk and Anna Morozova and Olga Gurina and Vladimir Chekhonin},
  journal = {Diseases (Basel, Switzerland)},
  year = {2026},
  month = oct,
  doi = {10.3390/diseases14100368},
  url = {https://europepmc.org/article/MED/42929995},
  note = {CC BY},
}
RIS
TY  - JOUR
TI  - Genetic Polymorphisms in SORL1, CLU, BIN1, and VDR Are Associated with Mild Cognitive Impairment and Dementia in a Russian Population.
AU  - Danil Peregud
AU  - Olga Pavlova
AU  - Konstantin Pavlov
AU  - Kira Nebogina
AU  - Yana Zorkina
AU  - Olga Abramova
AU  - Valeriya Ushakova
AU  - Aleksandra Ochneva
AU  - Eugene Zubkov
AU  - Inna Shamakina
AU  - Alisa Andryushchenko
AU  - Georgy Kostyuk
AU  - Anna Morozova
AU  - Olga Gurina
AU  - Vladimir Chekhonin
PY  - 2026
DA  - 2026/10/03
JO  - Diseases (Basel, Switzerland)
DO  - 10.3390/diseases14100368
UR  - https://europepmc.org/article/MED/42929995
AB  - Background  Mild cognitive impairment (MCI) is a transitional state between normal aging and dementia, and genetic factors may influence progression. This study aimed to identify genetic polymorphisms associated with MCI and dementia in a Russian population.Methods  A total of 280 participants were enrolled: Controls (n = 84), MCI (n = 94), and Dementia (n = 102). Fifteen single nucleotide polymorphisms in seven candidate genes (TOMM40, SORL1, BIN1, VDR, CLU, CR1, PICALM) were genotyped. Associations were tested using multinomial logistic regression adjusted for age and sex under four genetic models (codominant, dominant, recessive, overdominant). Multiple testing was controlled using the Benjamini-Hochberg false discovery rate (FDR) procedure. Deviation from Hardy-Weinberg equilibrium was observed for three SNPs in the Controls (SORL1 rs1010159, BIN1 rs7561528, rs10200967) and interpreted with caution.Results  Under the primary FDR correction (60 tests per contrast), only BIN1 polymorphisms remained significantly associated with dementia: rs7561528 (overdominant model: OR = 0.318, 95% CI = 0.162-0.624, p = 0.001, q = 0.0035) and rs10200967 (overdominant model: OR = 0.272, 95% CI = 0.136-0.544, p < 0.001, q < 0.007). Under the more conservative exploratory correction (150 tests), these associations were at the threshold of significance (q = 0.050).Conclusions  BIN1 rs7561528 and rs10200967 are associated with reduced odds of dementia in the Russian population. Nominally significant associations with SORL1, CLU, and VDR require replication in larger cohorts. The developed genotyping panel represents a cost-effective research tool for genetic screening; clinical implementation requires validation in larger prospective cohorts.
SN  - 2079-9721
ER  -