{
  "abstract": "Background\n\nMild 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\n\nA 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\n\nUnder 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\n\nBIN1 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.",
  "abstract_shown": true,
  "affiliations": [
    "V. Serbsky National Medical Research Centre of Psychiatry and Narcology, 119034 Moscow, Russia.",
    "Mental-Health Clinic No. 1 Named After N.A. Alekseev, 115191 Moscow, Russia.",
    "Faculty of Psychology, Lomonosov Moscow State University, 119991 Moscow, Russia.",
    "I. M. Sechenov First Moscow State Medical University (Sechenov University), 119435 Moscow, Russia.",
    "Department of Medical Nanobiotechnology, Institute for Translational Medicine, Pirogov Russian National Research Medical University, 117997 Moscow, Russia.",
    "Endocrinology Research Centre, 117292 Moscow, Russia."
  ],
  "article_type": "research article",
  "arxiv": null,
  "author_total": 15,
  "authors": [
    {
      "affs": [
        0
      ],
      "name": "Danil Peregud",
      "orcid": "0000-0002-2733-9640"
    },
    {
      "affs": [
        0
      ],
      "name": "Olga Pavlova",
      "orcid": "0000-0003-4108-4952"
    },
    {
      "affs": [
        0
      ],
      "name": "Konstantin Pavlov",
      "orcid": "0000-0001-8390-7000"
    },
    {
      "affs": [
        0
      ],
      "name": "Kira Nebogina"
    },
    {
      "affs": [
        0,
        1
      ],
      "name": "Yana Zorkina",
      "orcid": "0000-0003-0247-2717"
    },
    {
      "affs": [
        0,
        1
      ],
      "name": "Olga Abramova",
      "orcid": "0000-0001-8793-1833"
    },
    {
      "affs": [
        0,
        1
      ],
      "name": "Valeriya Ushakova",
      "orcid": "0000-0003-3480-910X"
    },
    {
      "affs": [
        0,
        1
      ],
      "name": "Aleksandra Ochneva",
      "orcid": "0000-0003-4182-5503"
    },
    {
      "affs": [
        0
      ],
      "name": "Eugene Zubkov"
    },
    {
      "affs": [
        0,
        2
      ],
      "name": "Inna Shamakina"
    },
    {
      "affs": [
        1,
        2
      ],
      "name": "Alisa Andryushchenko"
    },
    {
      "affs": [
        1,
        2,
        3
      ],
      "name": "Georgy Kostyuk",
      "orcid": "0000-0002-3073-6305"
    },
    {
      "affs": [
        0,
        1
      ],
      "name": "Anna Morozova"
    },
    {
      "affs": [
        0
      ],
      "name": "Olga Gurina"
    },
    {
      "affs": [
        0,
        4,
        5
      ],
      "name": "Vladimir Chekhonin",
      "orcid": "0000-0003-4386-7897"
    }
  ],
  "bibtex": "https://research.draconitic.com/paper/d221ftt2synt0.bib",
  "cited_by": 0,
  "doi": "10.3390/diseases14100368",
  "fulltext_url": "https://europepmc.org/articles/PMC13703006",
  "id": "d221ftt2synt0",
  "issns": [
    "2079-9721"
  ],
  "landing_url": "https://europepmc.org/article/MED/42929995",
  "language": "eng",
  "licence": "CC-BY",
  "licence_label": "CC BY",
  "licence_source": "article",
  "licence_url": "https://creativecommons.org/licenses/by/4.0/",
  "metadata_licence": null,
  "native_subjects": [
    [
      "lcc",
      "R"
    ],
    [
      "openalex",
      "2738|Dementia and Cognitive Impairment Research"
    ]
  ],
  "openalex": "W7220455022",
  "pdf_url": "https://europepmc.org/articles/PMC13703006?pdf=render",
  "pmcid": "PMC13703006",
  "pmid": "42929995",
  "published": "2026-10-03",
  "publisher": "MDPI AG",
  "ris": "https://research.draconitic.com/paper/d221ftt2synt0.ris",
  "sources": [
    {
      "first_seen": "2026-10-30T12:22:01Z",
      "native_id": "MED:42929995",
      "source": "europepmc",
      "url": "https://europepmc.org/article/MED/42929995"
    },
    {
      "first_seen": "2026-10-31T14:21:27Z",
      "native_id": "0184d8229d21480ba86ab0b429661d75",
      "source": "doaj",
      "url": "https://doi.org/10.3390/diseases14100368"
    }
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  "subjects": [
    {
      "field": "medicine",
      "origin": "openalex:2738|Dementia and Cognitive Impairment Research",
      "subfield": "psychiatry"
    }
  ],
  "title": "Genetic Polymorphisms in SORL1, CLU, BIN1, and VDR Are Associated with Mild Cognitive Impairment and Dementia in a Russian Population.",
  "title_text": "Genetic Polymorphisms in SORL1, CLU, BIN1, and VDR Are Associated with Mild Cognitive Impairment and Dementia in a Russian Population.",
  "type": "peer-reviewed",
  "updated_at": "2026-10-31T14:21:27Z",
  "url": "https://research.draconitic.com/paper/d221ftt2synt0",
  "venue": "Diseases (Basel, Switzerland)",
  "versions": []
}