Abstract
BackgroundClassical 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.Methodology/Principal FindingsIn 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).Conclusion/SignificanceA 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.
Highlights
Transmissible spongiform encephalopathies (TSEs), known as prion diseases, are a group of mammalian neurodegenerative diseases that are invariably fatal and affect humans, ruminants, cats, and mink [1]
The objective of this study was to test for association between PRNP haplotypes and bovine spongiform encephalopathy (BSE) disease using a set of haplotype tagging single nucleotide polymorphisms (htSNPs) that effectively tag haplotypes d within and across the PRNP locus
[25] and tested for single marker associations with BSE disease status, the complete set of htSNPs and the 23 and 12-bp indels were not included in the earlier study, and the haplotypes were not tested for association with BSE disease
Summary
Transmissible spongiform encephalopathies (TSEs), known as prion diseases, are a group of mammalian neurodegenerative diseases that are invariably fatal and affect humans, ruminants, cats, and mink [1] (reviewed by [2]). At least three distinct bovine spongiform encephalopathies (BSEs) are known to afflict cattle [4]. The most common TSE of cattle is classical BSE with 190,542 cases reported in 26 countries (http:// www.oie.int/eng/info/en_esbmonde.htm). Classical bovine spongiform encephalopathy is an acquired TSE that is most likely spread through the consumption of meat and bone meal contaminated with the infectious prion agent. 51 atypical BSE cases have been reported worldwide (quote from Dr Reg Butler, http://www.ibtimes.com/contents/20100318/ cattle-disease-classical-bse-atypical-bse.htm). 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.
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