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<p><b>Objective.</b> To investigate five single-nucleotide substitution polymorphisms (SNP) of the protocadherin gamma (<i>PCDHG</i>) and <i>DIAPH1</i> genes, which have previously been identified as a haploblock on chromosome 5 (chr5:140757301–140940025) and are associated with the risk of ischemic stroke (IS) in patients of Western European origin, in a cohort of IS patients of Russian ethnicity. <b>Materials and methods.</b> Identification and analysis of allelic variants of five SNP (rs17603019 and rs11575963 of <i>PCDHG</i>; rs251021, rs397327, and rs17524736 of <i>DIAPH1</i>) were carried out in groups of patients with IS and controls, consisting of 331 and 222 individuals aged ≥55 years respectively. Functional recovery of patients after stroke was assessed using the modified Rankin scale. <b>Results.</b> The probability value <i>p</i> for the haploblock was 0.019. Of the haplotypes, the TTTTA haplotype was associated with risk of IS (<i>p</i> = 0.0039). At the individual level, SNP rs251021 (<i>p</i> = 0.0075) and rs397327 (<i>p</i> = 0.0093; dominant model) of the <i>DIAPH1</i> gene were also associated with the dynamics of recovery of patients after stroke. <b>Conclusions.</b> The association of the five-site haploblock with IS previously established in Western Europeans was confirmed in an Eastern European cohort of Russian patients. It is suggested that the genes included in the block can be regarded as candidate genes not only for the risk of developing the disease, but also for the functional recovery of patients after stroke.</p>

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Analysis of the Association of Polymorphisms of the Protocadherin Gamma and DIAPH1 Genes with Ischemic Stroke in Members of the Russian Population

  • 期刊论文

  • 发表日期：

    2026年2月25日

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

摘要

Objective. To investigate five single-nucleotide substitution polymorphisms (SNP) of the protocadherin gamma (PCDHG) and DIAPH1 genes, which have previously been identified as a haploblock on chromosome 5 (chr5:140757301–140940025) and are associated with the risk of ischemic stroke (IS) in patients of Western European origin, in a cohort of IS patients of Russian ethnicity. Materials and methods. Identification and analysis of allelic variants of five SNP (rs17603019 and rs11575963 of PCDHG; rs251021, rs397327, and rs17524736 of DIAPH1) were carried out in groups of patients with IS and controls, consisting of 331 and 222 individuals aged ≥55 years respectively. Functional recovery of patients after stroke was assessed using the modified Rankin scale. Results. The probability value p for the haploblock was 0.019. Of the haplotypes, the TTTTA haplotype was associated with risk of IS (p = 0.0039). At the individual level, SNP rs251021 (p = 0.0075) and rs397327 (p = 0.0093; dominant model) of the DIAPH1 gene were also associated with the dynamics of recovery of patients after stroke. Conclusions. The association of the five-site haploblock with IS previously established in Western Europeans was confirmed in an Eastern European cohort of Russian patients. It is suggested that the genes included in the block can be regarded as candidate genes not only for the risk of developing the disease, but also for the functional recovery of patients after stroke.