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Open Access Short Report

Association analysis of PRNP gene region with chronic wasting disease in Rocky Mountain elk

Stephen N White123*, Terry R Spraker4, James O Reynolds1 and Katherine I O'Rourke12

Author Affiliations

1 Animal Disease Research Unit, Agricultural Research Service, U.S. Department of Agriculture, Pullman, WA 99164, USA

2 Department of Veterinary Microbiology and Pathology, Washington State University, Pullman, WA 99164, USA

3 Center for Integrated Biotechnology, Washington State University, Pullman, WA 99164, USA

4 Colorado State University College of Veterinary Medicine & Biomedical Sciences, Fort Collins, CO 80526, USA

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BMC Research Notes 2010, 3:314  doi:10.1186/1756-0500-3-314

Published: 18 November 2010

Abstract

Background

Chronic wasting disease (CWD) is a transmissible spongiform encephalopathy (TSE) of cervids including white-tailed (Odocoileus virginianus) and mule deer (Odocoileus hemionus), Rocky Mountain elk (Cervus elaphus nelsoni), and moose (Alces alces). A leucine variant at position 132 (132L) in prion protein of Rocky Mountain elk confers a long incubation time with CWD, but not complete resistance. However, variants in regulatory regions outside the open reading frame of PRNP have been associated with varying degrees of susceptibility to prion disease in other species, and some variants have been observed in similar regions of Rocky Mountain elk PRNP. Thus, additional genetic variants might provide increased protection, either alone or in combination with 132L.

Findings

This study provided genomic sequence of all exons for PRNP of Rocky Mountain elk. Many functional sites in and around the PRNP gene region were sequenced, and this report approximately doubled (to 75) the number of known variants in this region. A haplotype-tagging approach was used to reduce the number of genetic variants required to survey this variation in the PRNP gene region of 559 Rocky Mountain elk. Eight haplotypes were observed with frequencies over 1.0%, and one haplotype was present at 71.2% frequency, reflecting limited genetic diversity in the PRNP gene region.

Conclusions

The presence of 132L cut odds of CWD by more than half (Odds Ratio = 0.43; P = 0.0031), which was similar to a previous report. However after accounting for 132L, no association with CWD was found for any additional variants in the PRNP region (P > 0.05).