title: Genetic risk factors associated with Creutzfeld-Jakob disease in Slovenians and a rapid typing for PRNP codon 129 single nucleotide polymorphism.
abstract: PRNP has been the most informative marker for the predisposition to variant Creutzfeld-Jakob disease (vCJD). All victims of the vCJD carried methionine (M) at the position 129 of the PrP. Prions could travel through the immune system to get from the gut to the brain, and human leucocyte antigens (HLAs) could be involved in this carriage, with HLA-DQ7 being less efficient. Contradictory reports have raised the question of the influence of sampling in population studies. We developed a fast and reliable real-time polymerase chain reaction for codon 129 single nucleotide polymorphism (SNP) using TaqMan technology, which overcomes the main drawbacks of other methods and analysed Slovenian population (n = 97). The comparison with other populations served for the estimation of the genetic risk for the development of vCJD in Slovenians. The frequencies at the codon 129 SNP in the Slovenian population were 43.3% M, 45.4% M/V 11.3% V. Considerable differences between the DQ7 frequencies in diverse samples from the same population can be seen, especially when compared to Slovenian population. This could be because of the diverse criteria for including subjects into the study and the sampling of geographically distinct subpopulations. Analysing the adequacy of HLA-DQ7 as a possible predictive factor for developing Creutzfeld-Jakob disease (CJD) by case - control studies could be improved with exact and equal sampling of groups of patients and controls. CJD genetic risk factors in the Slovenians were not found significantly different than those in British.
authors.affiliation: Blood Transfusion Centre of Slovenia, Slajmerjeva, Ljubljana.
authors.forename: V
authors.initials: V
authors.lastname: Galvani
authors.forename: R R
authors.initials: RR
authors.lastname: Rupreht
authors.forename: V C
authors.initials: VC
authors.lastname: Serbec
authors.forename: B
authors.initials: B
authors.lastname: Vidan-Jeras
mesh_terms: D003062:Codon / Q000235:genetics*; D007562:Creutzfeldt-Jakob Syndrome / Q000235:genetics*; D005819:Genetic Markers; D020022:Genetic Predisposition to Disease; D006683:HLA-DQ Antigens / Q000235:genetics*; D006801:Humans; D020641:Polymorphism, Single Nucleotide; D011328:Prions / Q000235:genetics*; D017524:Slovenia
chemical_list: D003062:Codon; D005819:Genetic Markers; D006683:HLA-DQ Antigens; C069546:HLA-DQ7 antigen; D011328:Prions