Genome-wide scan identifies loci associated with classical BSE occurrence

Murdoch, Brenda M., Murdoch, Gordon K., Settles, Matthew, McKay, Stephanie, Williams, John L. and Moore, Stephen S. (2011) Genome-wide scan identifies loci associated with classical BSE occurrence. PLoS One, 6 11: e26819.1-e26819.7. doi:10.1371/journal.pone.0026819

Author Murdoch, Brenda M.
Murdoch, Gordon K.
Settles, Matthew
McKay, Stephanie
Williams, John L.
Moore, Stephen S.
Title Genome-wide scan identifies loci associated with classical BSE occurrence
Journal name PLoS One   Check publisher's open access policy
ISSN 1932-6203
Publication date 2011-11
Sub-type Article (original research)
DOI 10.1371/journal.pone.0026819
Open Access Status DOI
Volume 6
Issue 11
Start page e26819.1
End page e26819.7
Total pages 7
Place of publication San Francisco, CA, United States
Publisher Public Library of Science
Collection year 2012
Language eng
Formatted abstract
Classical bovine spongiform encephalopathy (BSE) is an acquired prion disease that is invariably fatal in cattle and has been implicated as a significant human health risk. Sequence variations in the coding region of the prion gene (PRNP) have been associated with acquired transmissible spongiform encephalopathy (TSE) susceptibility in mammals; however, this is not the case in cattle. It has been hypothesized that genes, in addition to the prion gene, contribute to genetic susceptibility of acquired TSEs. Accordingly, genetic studies of classical BSE in cattle identified loci other than PRNP that are associated with disease incidence. The objective of this study was to utilize a genome-wide association study to test for genetic loci associated with classical BSE. The samples include 143 BSE affected (case) and 173 unaffected half sib (control) animals collected in the mid 1990s in Southern England. The data analysis identifies loci on two different chromosomes associated with BSE disease occurrence. Most notable is a single nucleotide polymorphism on chromosome 1 at 29.15 Mb that is associated with BSE disease (p = 3.09E-05). Additionally, a locus on chromosome 14, within a cluster of SNPs showed a trend toward significance (p = 5.24E-05). It is worth noting that in a human vCJD study markers on human chromosome 8, a region with shared synteny to the region identified on cattle chromosome 14, were associated with disease. Further, our candidate genes appear to have plausible biological relevance with the known etiology of TSE disease. One of the candidate genes is hypothetical gene LOC521010, similar to FK506 binding protein 2 located on chromosome 1 at 29.32 Mb. This gene encodes a protein that is a member of the immunophilin protein family and is involved in basic cellular processes including protein folding. The chromosomal regions identified in this study and candidate genes within these regions merit further investigation.
Q-Index Code C1
Q-Index Status Confirmed Code
Institutional Status Non-UQ
Additional Notes Article # e26819

Document type: Journal Article
Sub-type: Article (original research)
Collections: Non HERDC
Queensland Alliance for Agriculture and Food Innovation
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Citation counts: TR Web of Science Citation Count  Cited 8 times in Thomson Reuters Web of Science Article | Citations
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Created: Thu, 09 Feb 2012, 15:04:31 EST by Stephen Moore on behalf of Qld Alliance for Agriculture and Food Innovation