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Abstract <p>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, 595 386 single nucleotide polymorphisms), we identified 12 candidate genes predisposing to ischemic stroke. The association of the <i>JAK1</i>, <i>ADAMTS14</i>, <i>LYPD6B</i>, <i>CNTN3</i>, <i>KCTD16</i>, <i>ENSG00000263745</i>, and <i>KCNIP1</i> genes with ischemic stroke was established by testing individual single nucleotide polymorphisms; the <i>HSPA8P9</i>, <i>LINC01927</i>, <i>JPH2</i>, and <i>LINC00908</i> genes, by testing the haplotype blocks; and the <i>LINC03082</i> 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.</p>

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Identification of Genes Associated with the Risk of Ischemic Stroke in the Russian Population Using Individual Single Nucleotide Polymorphisms and Haplotype Blocks

  • 期刊论文

  • 发表日期：

    2026年7月27日

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  • G. V. Khvorykh,
  • E. A. Koltsova,
  • E. A. Petrova,
  • S. A. Limborska,
  • A. V. Khrunin

摘要

Abstract

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, 595 386 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.