Diseases
Genetic Polymorphisms in SORL1, CLU, BIN1, and VDR Are Associated with Mild Cognitive Impairment and Dementia in a Russian Population
By Danil Peregud, Olga Pavlova, Pavlov Ka and 12 others.
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.