NR AWWQ
AU Haase,B.; Doherr,M.G.; Seuberlich,T.; Drögemüller,C.; Dolf,G.; Nicken,P.; Schiebel,K.; Ziegler,U.; Groschup,M.H.; Zurbriggen,A.; Leeb,T.
TI PRNP promoter polymorphisms are associated with BSE susceptibility in Swiss and German cattle
QU BMC Genetics 2007; 8: 15
IA http://www.biomedcentral.com/1471-2156/8/15
PT journal article; research support, non-u.s. gov't
AB 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. CONCLUSION: 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.
IN Durch einen Vergleich von 43 deutschen BSE-Fällen mit 48 zumindest nicht erkennbar infizierten Kontrollrindern hatten die Autoren in früheren Arbeiten eine 23 Nukleotide und eine 12 Nukleotide lange Insertions/Deletionsregion im Promoter des Prionproteingens gefunden und meinten einen Einfluss dieser Polymorphismen auf die BSE-Empfänglichkeit zu erkennen [APVR,ATEB]. Nun weiteten Haase et al. ihre Untersuchung auf 449 BSE-Rinder und 431 nicht an BSE erkrankte Kontrollrinder aus Deutschland und der Schweiz aus und konnten für die 23 Nukleotide lange Insertions/Deletionsregion im Promoter des Prionproteingens einen signifikanten Einfluss auf die BSE-Empfänglichkeit zeigen.
MH Alleles; Animals; Cattle/*genetics; Encephalopathy, Bovine Spongiform/*genetics; Genetic Predisposition to Disease; Genotype; Germany; Polymerase Chain Reaction; *Polymorphism, Genetic; Prions/*genetics; Promoter Regions (Genetics); Switzerland
AD Bianca Haase (bianca.haase@itz.unibe.ch), Cord Drögemüller (cord.droegemueller@itz.unibe.ch), Gaudenz Dolf (gaudenz.dolf@itz.unibe.ch), Tosso Leeb (tosso.leeb@itz.unibe.ch), Institute of Genetics, Vetsuisse Faculty, University of Berne, Bremgartenstr. 109a, 3001 Berne, Switzerland; Marcus G. Doherr (marcus.doherr@itn.unibe.ch), Torsten Seuberlich (torsten.seuberlich@itn.unibe.ch), Andreas Zurbriggen (andreas.zurbriggen@itn.unibe.ch), Division of Clinical Research, Dept. Clinical Veterinary Medicine, Vetsuisse Faculty, University of Berne, 3001 Berne, Switzerland; Torsten Seuberlich, Andreas Zurbriggen, NeuroCenter, Reference Laboratory for TSE in animals, Vetsuisse Faculty, University of Berne, 3001 Berne, Switzerland; Petra Nicken (petra.nicken@tiho-hannover.de), Center for Food Science, Food Toxicology, University of Veterinary Medicine Hannover, Bischofsholer Damm 15, 30173 Hannover, Germany; Katrin Schiebel (Katrin.Schiebel@biochem.unierlangen.de), Institute for Biochemistry, Emil-Fischer-Center, University of Erlangen-Nürnberg, Fahrstr. 17, 91054 Erlangen, Germany; Ute Ziegler (ute.ziegler@fli.bund.de), Martin H. Groschup (martin.groschup@fli.bund.de), Friedrich-Loeffler-Institut (FLI), Institute for Novel and Emerging Infectious Diseases, Boddenblick 5a, 17493 Greifswald ? Insel Riems, Germany
SP englisch
PO England
EA pdf-Datei, Supplement 1, Supplement 2, Supplement 3, Supplement 4