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Neuropediatrics 2014; 45(05): 309-313
DOI: 10.1055/s-0034-1378129
Original Article
Georg Thieme Verlag KG Stuttgart · New York

Granzyme B Gene Polymorphism Associated with Subacute Sclerosing Panencephalitis

Sibel P. Yentur
1   Department of Physiology, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey
,
Hatice Nur Aydin
1   Department of Physiology, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey
,
Candan Gurses
2   Department of Neurology, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey
,
Veysi Demirbilek
3   Department of Neurology, Cerrahpasa Medical Faculty, Istanbul University, Istanbul, Turkey
,
Umit Kuru
4   Department of Pediatrics, Bayrampaşa Hospital, Istanbul, Turkey
,
Serap Uysal
5   Department of Pediatrics, Cerrahpasa Medical Faculty, Istanbul University, Istanbul, Turkey
,
Zuhal Yapici
2   Department of Neurology, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey
,
Safa Baris
6   Department of Pediatrics, Marmara School of Medicine, Istanbul, Turkey
,
Gülden Yilmaz
7   Department of Microbiology, Istanbul Medical Faculty, Istanbul, Turkey
,
Ozlem Cokar
8   Department of Neurology, Haseki Hospital, Istanbul, Turkey
,
Emel Onal
9   Department of Public Health, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey
,
Ayşen Gokyigit
2   Department of Neurology, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey
,
Güher Saruhan-Direskeneli
1   Department of Physiology, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey
› Author Affiliations
Further Information

Publication History

17 December 2013

30 March 2014

Publication Date:
29 May 2014 (online)

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Abstract

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.

Keywords

subacute sclerosing panencephalitis - granzyme B - single nucleotide polymorphism - function
 

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