Granzyme B Gene Polymorphism Associated with Subacute Sclerosing Panencephalitis


Yentur S. P. , Aydin H. N. , Gurses C., Demirbilek V., Kuru U., Uysal S., ...Daha Fazla

NEUROPEDIATRICS, cilt.45, sa.5, ss.309-313, 2014 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 45 Konu: 5
  • Basım Tarihi: 2014
  • Doi Numarası: 10.1055/s-0034-1378129
  • Dergi Adı: NEUROPEDIATRICS
  • Sayfa Sayıları: ss.309-313

Özet

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.

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.