title: PRNP haplotype associated with classical BSE incidence in European Holstein cattle.
abstract: BACKGROUND
  Classical bovine spongiform encephalopathy (BSE) is an acquired prion disease of cattle. The bovine prion gene (PRNP) contains regions of both high and low linkage disequilibrium (LD) that appear to be conserved across Bos taurus populations. The region of high LD, which spans the promoter and part of intron 2, contains polymorphic loci that have been associated with classical BSE status. However, the complex genetic architecture of PRNP has not been systematically tested for an association with classical BSE.
  
  
  RESULTS
  In this study, haplotype tagging single nucleotide polymorphisms (htSNPs) within PRNP were used to test for association between PRNP haplotypes and BSE disease. A combination of Illumina goldengate assay, sequencing and PCR amplification was used to genotype 18 htSNPs and 2 indels in 95 BSE case and 134 control animals. A haplotype within the region of high LD was found to be associated with BSE unaffected animals (p-value=0.000114).
  
  
  CONCLUSIONS
  A PRNP haplotype association with classical BSE incidence has been identified. This result suggests that a genetic determinant in or near PRNP may influence classical BSE incidence in cattle.
authors.affiliation: Department of Agricultural, Food and Nutritional Science, University of Alberta, Alberta, Edmonton, Canada. bmurdoch@ualberta.ca
authors.forename: Brenda M
authors.initials: BM
authors.lastname: Murdoch
authors.forename: Michael L
authors.initials: ML
authors.lastname: Clawson
authors.forename: Samuel
authors.initials: S
authors.lastname: Yue
authors.forename: Urmila
authors.initials: U
authors.lastname: Basu
authors.forename: Stephanie
authors.initials: S
authors.lastname: McKay
authors.forename: Matthew
authors.initials: M
authors.lastname: Settles
authors.forename: Rossana
authors.initials: R
authors.lastname: Capoferri
authors.forename: William W
authors.initials: WW
authors.lastname: Laegreid
authors.forename: John L
authors.initials: JL
authors.lastname: Williams
authors.forename: Stephen S
authors.initials: SS
authors.lastname: Moore
mesh_terms: D000818:Animals; D001483:Base Sequence; D002417:Cattle; D016643:Encephalopathy, Bovine Spongiform / Q000453:epidemiology* / Q000235:genetics* / Q000378:metabolism; D005060:Europe / Q000453:epidemiology; D006239:Haplotypes; D015994:Incidence; D008969:Molecular Sequence Data; D020641:Polymorphism, Single Nucleotide; D011328:Prions / Q000235:genetics* / Q000378:metabolism
chemical_list: D011328:Prions