In-Soon Roh1, Yong-Chan Kim2,3, Hyo-Jin Kim1, Sae-Young Won2,3, Min-Ju Jeong2,3, Ji-Yong Hwang1, Hae-Eun Kang1, Hyun-Joo Sohn1, Byung-Hoon Jeong2,3. 1. Reference Laboratory for CWD, Foreign Animal Disease Division, Animal and Plant Quarantine Agency, Gimcheon, Republic of Korea. 2. Korea Zoonosis Research Institute, Jeonbuk National University, Iksan, Republic of Korea. 3. Department of Bioactive Material Sciences and Institute for Molecular Biology and Genetics, Jeonbuk National University, Jeonju, Republic of Korea.
Abstract
BACKGROUND: Chronic wasting disease (CWD) is a cervid prion disease that is caused by abnormal prion protein (PrPSc ). Recent studies have reported that prion family genes showed a strong association with the susceptibility of several types of prion diseases. To date, an association study of the prion-related protein gene (PRNT) has not been performed in any type of cervid prion disease. METHODS: In the present study, we investigated PRNT polymorphisms in large deer, including 235 elk, 257 red deer and 150 sika deer. We compared genotype, allele and haplotype frequencies of PRNT polymorphisms between CWD-negative animals and CWD-positive animals to find an association of PRNT polymorphisms with the susceptibility of CWD. RESULTS: We found a total of five novel single nucleotide polymorphisms (SNPs) in the cervid PRNT gene. Interestingly, we observed significantly different distributions of genotypes and allele frequencies of three PRNT SNPs, including c.108C>T, c.159+30C>T and c.159+32A>C, between CWD-negative and CWD-positive red deer. In addition, significant differences of two haplotype frequencies in red deer were found between the CWD-negative and CWD-positive groups. However, the association identified in the red deer was not found in elk and sika deer. CONCLUSION: To the best of our knowledge, this report is the first to describe the strong association of PRNT SNPs with the susceptibility of CWD.
BACKGROUND: Chronic wasting disease (CWD) is a cervid prion disease that is caused by abnormal prion protein (PrPSc ). Recent studies have reported that prion family genes showed a strong association with the susceptibility of several types of prion diseases. To date, an association study of the prion-related protein gene (PRNT) has not been performed in any type of cervid prion disease. METHODS: In the present study, we investigated PRNT polymorphisms in large deer, including 235 elk, 257 red deer and 150 sika deer. We compared genotype, allele and haplotype frequencies of PRNT polymorphisms between CWD-negative animals and CWD-positive animals to find an association of PRNT polymorphisms with the susceptibility of CWD. RESULTS: We found a total of five novel single nucleotide polymorphisms (SNPs) in the cervid PRNT gene. Interestingly, we observed significantly different distributions of genotypes and allele frequencies of three PRNT SNPs, including c.108C>T, c.159+30C>T and c.159+32A>C, between CWD-negative and CWD-positive red deer. In addition, significant differences of two haplotype frequencies in red deer were found between the CWD-negative and CWD-positive groups. However, the association identified in the red deer was not found in elk and sika deer. CONCLUSION: To the best of our knowledge, this report is the first to describe the strong association of PRNT SNPs with the susceptibility of CWD.