title: PRNP promoter polymorphisms are associated with BSE susceptibility in Swiss and German cattle.
abstract: BACKGROUND
  Non-synonymous polymorphisms within the prion protein gene (PRNP) influence the susceptibility and incubation time for transmissible spongiform encephalopathies (TSE) in some species such as sheep and humans. In cattle, none of the known polymorphisms within the PRNP coding region has a major influence on susceptibility to bovine spongiform encephalopathy (BSE). Recently, however, we demonstrated an association between susceptibility to BSE and a 23 bp insertion/deletion (indel) polymorphism and a 12 bp indel polymorphism within the putative PRNP promoter region using 43 German BSE cases and 48 German control cattle. The objective of this study was to extend this work by including a larger number of BSE cases and control cattle of German and Swiss origin.
  
  
  RESULTS
  Allele, genotype and haplotype frequencies of the two indel polymorphisms were determined in 449 BSE cattle and 431 unaffected cattle from Switzerland and Germany including all 43 German BSE and 16 German control animals from the original study. When breeds with similar allele and genotype distributions were compared, the 23 bp indel polymorphism again showed a significant association with susceptibility to BSE. However, some additional breed-specific allele and genotype distributions were identified, mainly related to the Brown breeds.
  
  
  CONCLUSIONS
  Our study corroborated earlier findings that polymorphisms in the PRNP promoter region have an influence on susceptibility to BSE. However, breed-specific differences exist that need to be accounted for when analyzing such data.
authors: Institute of Genetics, Vetsuisse Faculty, University of Berne, Berne, Switzerland. bianca.haase@itz.unibe.ch <bianca.haase@itz.unibe.ch>
authors: Bianca
authors: B
authors: Haase
authors: Marcus G
authors: MG
authors: Doherr
authors: Torsten
authors: T
authors: Seuberlich
authors: Cord
authors: C
authors: Drögemüller
authors: Gaudenz
authors: G
authors: Dolf
authors: Petra
authors: P
authors: Nicken
authors: Katrin
authors: K
authors: Schiebel
authors: Ute
authors: U
authors: Ziegler
authors: Martin H
authors: MH
authors: Groschup
authors: Andreas
authors: A
authors: Zurbriggen
authors: Tosso
authors: T
authors: Leeb
mesh_terms: D000483:Alleles; D000818:Animals; D002417:Cattle / Q000235:genetics*; D016643:Encephalopathy, Bovine Spongiform / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D005838:Genotype; D005858:Germany; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D011328:Prions / Q000235:genetics*; D011401:Promoter Regions, Genetic; D013557:Switzerland
chemical_list: D011328:Prions