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Neuropediatrics ; 45(5): 309-13, 2014 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-24875585

RESUMO

BACKGROUND: Subacute sclerosing panencephalitis (SSPE) is a late complication of measles infection. Immune dysfunction related to genetic susceptibility has been considered in disease pathogenesis. A functional single nucleotide polymorphism (SNP) of granzyme B gene (GZMB) reported in several pathologies may also be involved in susceptibility to SSPE. PATIENTS AND METHODS: An SNP (rs8192917, G → A, R→Q) was screened in 118 SSPE patients and 221 healthy controls (HC) by polymerase chain reaction-restriction fragment length polymorphism. Frequencies were compared between groups. In vitro production of GZMB was measured in controls with different genotypes. RESULTS: The SNP had a minor allele (G) frequency of 0.22 in patients and 0.31 in controls. GG genotype was significantly less frequent in patients (odds ratio, 0.23). G allele carriers produced relatively higher levels of GZMB, when stimulated in vitro. CONCLUSION: These findings implicate possible effect of this genetic polymorphism in susceptibility to SSPE which needs to be confirmed in bigger populations.


Assuntos
Predisposição Genética para Doença/genética , Granzimas/genética , Polimorfismo de Nucleotídeo Único/genética , Panencefalite Esclerosante Subaguda/genética , Adolescente , Adulto , Antígenos CD , Criança , Pré-Escolar , Citocinas/metabolismo , Feminino , Estudos de Associação Genética , Genótipo , Humanos , Lactente , Masculino , Adulto Jovem
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