Association of CD40 gene single nucleotide polymorphism and haplotype with ischemic stroke
Abstract：Objective To study the association of CD40 gene single nucleotide polymorphism (SNP) and haplotype with ischemic stroke .Methods Two hundred and two ischemic stroke pa‐tients served as an ischemic stroke group and 199 healthy subjects undergoing physical examina‐tion served as a control group in this study .The SNP of CD40 gene (rs1883832 C/T ,rs1569723 A/C and rs4810485 G/T)and haplotype were detected by PCR and DNA sequencing ,respective‐ly .The serum CD40 level was measured by ELISA .Results The CD40 gene (rs1883832 C/T ) genotype and allele frequency differed significantly in ischemic stroke group and control group (P<0 .01) .Relative risk analysis of allele frequency showed that the risk to develop ischemic stroke was 1 .557‐fold higher in rs1883832 T allele carriers than in rs1883832 C allele carriers (P=0 .002)and the serum CD40 level was significantly higher in rs1883832 T allele carriers than in none rs1883832 T allele carriers carriers (P<0 .05) .Combined genotype analysis displayed that the risk to develop ischemic stroke was significantly higher in ischemic stroke group carrying rs1883832 C/T ,rs1569723 A/C and rs4810485 G/T haplotype than in control group (P=0 .033) . Conclusion The SNP of CD40 gene rs1883832 C/T and its T ,C ,T haplotypes are associated with ischemic stroke .T allele is a genetic susceptible gene for ischemic stroke .The risk to develop ischemic stroke increases in CD40 T allele carriers by upregulating the CD40 expression .
Keywords：polymorphismsingle nucleotidestrokegenotypegene frequency
Publication Date：2015-01-01
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：4( 283-286 )