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Updated: May 27, 2026

Large-Scale Multi-Omics Genome-Wide Association Studies (Mo-GWAS): Guidelines for Sample Preparation and Normalization
Published on: July 27, 2021
Genome-wide scan identifies loci associated with classical BSE occurrence.
Brenda M Murdoch1, Gordon K Murdoch, Matthew Settles
1Department of Agricultural, Food and Nutritional Science, University of Alberta, Edmonton, Alberta, Canada. brenda_murdoch@wsu.edu
Genome-wide association studies identified two novel genetic loci associated with bovine spongiform encephalopathy (BSE) in cattle. These findings suggest additional genes beyond the prion gene influence BSE susceptibility, aiding future disease prevention strategies.
Area of Science:
- Veterinary Genetics
- Prion Disease Research
- Animal Health Genomics
Background:
- Classical bovine spongiform encephalopathy (BSE) is a fatal prion disease in cattle with implications for human health.
- Genetic variations in the prion gene (PRNP) are not linked to BSE susceptibility in cattle, unlike other mammals.
- Hypotheses suggest additional genes contribute to genetic susceptibility for acquired transmissible spongiform encephalopathies (TSEs).
Purpose of the Study:
- To conduct a genome-wide association study (GWAS) to identify genetic loci associated with classical BSE in cattle.
- To investigate genetic factors beyond the PRNP gene that may influence BSE incidence.
- To explore potential genetic markers for BSE susceptibility in cattle populations.
Main Methods:
- A genome-wide association study was performed using 143 BSE-affected (case) and 173 unaffected half-sibling (control) cattle from Southern England.
- Samples were collected in the mid-1990s, coinciding with the period of classical BSE outbreaks.
- Statistical analyses were employed to identify single nucleotide polymorphisms (SNPs) significantly associated with BSE disease occurrence.
Main Results:
- Two distinct chromosomal loci were significantly associated with BSE disease occurrence.
- A single nucleotide polymorphism (SNP) on chromosome 1 (29.15 Mb) showed a strong association with BSE (p = 3.09E-05).
- A locus on chromosome 14, identified through a cluster of SNPs, exhibited a trend toward significance (p = 5.24E-05).
Conclusions:
- The study identified novel genetic loci on cattle chromosomes 1 and 14 associated with classical BSE.
- These findings support the hypothesis that genes other than PRNP play a role in BSE susceptibility.
- Candidate genes, including a hypothetical gene LOC521010 involved in protein folding, warrant further investigation for their role in TSE pathogenesis.
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