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Open Access Research article

PRNP promoter polymorphisms are associated with BSE susceptibility in Swiss and German cattle

Bianca Haase1, Marcus G Doherr2, Torsten Seuberlich23, Cord Drögemüller1, Gaudenz Dolf1, Petra Nicken4, Katrin Schiebel5, Ute Ziegler6, Martin H Groschup6, Andreas Zurbriggen23 and Tosso Leeb1*

Author Affiliations

1 Institute of Genetics, Vetsuisse Faculty, University of Berne, Bremgartenstr. 109a, 3001 Berne, Switzerland

2 Division of Clinical Research, Dept. Clinical Veterinary Medicine, Vetsuisse Faculty, University of Berne, 3001 Berne, Switzerland

3 NeuroCenter, Reference Laboratory for TSE in animals, Vetsuisse Faculty, University of Berne, 3001 Berne, Switzerland

4 Center for Food Science, Food Toxicology, University of Veterinary Medicine Hannover, Bischofsholer Damm 15, 30173 Hannover, Germany

5 Institute for Biochemistry, Emil-Fischer-Center, University of Erlangen-Nürnberg, Fahrstr. 17, 91054 Erlangen, Germany

6 Friedrich-Loeffler-Institut (FLI), Institute for Novel and Emerging Infectious Diseases, Boddenblick 5a, 17493 Greifswald – Insel Riems, Germany

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BMC Genetics 2007, 8:15  doi:10.1186/1471-2156-8-15

Published: 16 April 2007



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.


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.


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.