title: Granzyme B gene polymorphism associated with subacute sclerosing panencephalitis.
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.
  
  
  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.
  
  
  CONCLUSIONS
  These findings implicate possible effect of this genetic polymorphism in susceptibility to SSPE which needs to be confirmed in bigger populations.
authors.affiliation: Department of Physiology, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey.
authors.forename: Sibel P
authors.initials: SP
authors.lastname: Yentur
authors.affiliation: Department of Physiology, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey.
authors.forename: Hatice Nur
authors.initials: HN
authors.lastname: Aydin
authors.affiliation: Department of Neurology, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey.
authors.forename: Candan
authors.initials: C
authors.lastname: Gurses
authors.affiliation: Department of Neurology, Cerrahpasa Medical Faculty, Istanbul University, Istanbul, Turkey.
authors.forename: Veysi
authors.initials: V
authors.lastname: Demirbilek
authors.affiliation: Department of Pediatrics, Bayrampaşa Hospital, Istanbul, Turkey.
authors.forename: Umit
authors.initials: U
authors.lastname: Kuru
authors.affiliation: Department of Pediatrics, Cerrahpasa Medical Faculty, Istanbul University, Istanbul, Turkey.
authors.forename: Serap
authors.initials: S
authors.lastname: Uysal
authors.affiliation: Department of Neurology, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey.
authors.forename: Zuhal
authors.initials: Z
authors.lastname: Yapici
authors.affiliation: Department of Pediatrics, Marmara School of Medicine, Istanbul, Turkey.
authors.forename: Safa
authors.initials: S
authors.lastname: Baris
authors.affiliation: Department of Microbiology, Istanbul Medical Faculty, Istanbul, Turkey.
authors.forename: Gülden
authors.initials: G
authors.lastname: Yilmaz
authors.affiliation: Department of Neurology, Haseki Hospital, Istanbul, Turkey.
authors.forename: Ozlem
authors.initials: O
authors.lastname: Cokar
authors.affiliation: Department of Public Health, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey.
authors.forename: Emel
authors.initials: E
authors.lastname: Onal
authors.affiliation: Department of Neurology, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey.
authors.forename: Ayşen
authors.initials: A
authors.lastname: Gokyigit
authors.affiliation: Department of Physiology, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey.
authors.forename: Güher
authors.initials: G
authors.lastname: Saruhan-Direskeneli
mesh_terms: D000293:Adolescent; D000328:Adult; D015703:Antigens, CD; D002648:Child; D002675:Child, Preschool; D016207:Cytokines / Q000378:metabolism; D005260:Female; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005838:Genotype; D053804:Granzymes / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D013344:Subacute Sclerosing Panencephalitis / Q000235:genetics*; D055815:Young Adult
chemical_list: D015703:Antigens, CD; D016207:Cytokines; D053804:Granzymes