|
Vol 60(2026) N 4 p. 543-551; DOI 10.1134/S0026893326700081  G.V. Khvorykh1*, E.A. Koltsova2, E.A. Petrova2, S.A. Limborska1,3, A.V. Khrnnin1 Identification of Genes Associated with the Risk of Ischemic Stroke in the Russian Population Using Individual Single Nucleotide Polymorphisms and Haplotype Blocks 1National Research Centre "Kurchatov InstituteMoscow, 123182 Russia2Pirogov Russian National Research Medical University, Ministry of Health of the Russian Federation, Moscow, 117997 Russia 3Research Centre for Medical Genetics, Moscow, 115522 Russia *khvoryh_gv@nrcki.ru Received - 2025-10-20; Revised - 2026-01-21; Accepted - 2026-02-27 The genetic basis of ischemic stroke remains poorly understood. Using genotypic data of individuals from Russian population (177 patients with ischemic stroke, 228 control individuals, 595386 single nucleotide polymorphisms), we identified 12 candidate genes predisposing to ischemic stroke. The association of the JAK1, ADAMTS14, LYPD6B, CNTN3, KCTD16, ENSG00000263745, and KCNIP1 genes with ischemic stroke was established by testing individual single nucleotide polymorphisms; the HSPA8P9, LINC01927, JPH2, and LINC00908 genes, by testing the haplotype blocks; and the LINC03082 gene, by both the aforementioned methods. To form the haplotype blocks, we grouped single-nucleotide polymorphisms in such a way that the corresponding linkage disequilibrium matrix was singular. This unique approach for constructing haploblocks allowed us to identify genomic loci that were not detected when testing individual polymorphisms. Analysis of the literature showed that most of the identified candidate genes were directly or indirectly associated with the pathogenesis of ischemic stroke. ischemic stroke, single nucleotide polymorphism, linkage disequilibrium, determinant |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
