Analysis of the association of polymorphism of the protocadherin gamma and DIAPH1 genes with ischemic stroke in individuals from the Russian population

Objective. To study the polymorphism of 5 single nucleotide substitutions (SNPs) of the protocadherin gamma (PCDHG) and DIAPH1 genes, previously identified as a haploblock on chromosome 5 (chr5:140757301-140940025) and associated with the risk of ischemic stroke (IS) in patients of Western European origin, in a cohort of IS patients from the Russian ethnic group. Material and methods. Determination and study of allelic variants of 5 SNPs (rs17603019, rs11575963, PCDHG; rs251021, rs397327 and rs17524736;DIAPH1) was carried out in a group of IS patients and a control group, which included 331 and 222 subjects, respectively, 55 years of age or older. The functional recovery of patients after a stroke was assessed according to a modified Rankin scale. Results. The probability p-value for the haploblock was 0.019. From the haplotypes, the TTTTA haplotype (p=0.0039) was associated with the IS risk; at the individual level, SNPs rs251021 (p=0.0075) and rs397327 (p=0.0093;dominant model) of the DIAPH1 gene were also associated with the recovery of patients after stroke. Conclusion. The association of a 5-site haploblock with IS, established earlier in Western Europeans, was confirmed in the Eastern European cohort of Russian patients. It is assumed that the genes included in it can be considered candidate genes in relation to the risk of developing the disease and the functional recovery of patients after a stroke.