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Diseases
By Danil Peregud, Olga Pavlova, Pavlov Ka and 12 others.
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.
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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.
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).
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.
Published in Diseases. The abstract is shown as published and remains the work of its authors; read the full article at the source.
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