Genome-wide association study in multiple human prion diseases suggests genetic risk factors additional to PRNP
Prion diseases are fatal neurodegenerative diseases of humans and animals caused by the misfolding and aggregation of prion protein (PrP). Mammalian prion diseases are under strong genetic control but few risk factors are known aside from the PrP gene locus (PRNP). No genome-wide association study (...
| Main Authors: | , , , , , , , , , , , , , , , , , , , , |
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| Format: | Journal Article |
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Oxford University Press
2012
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| Online Access: | http://hdl.handle.net/20.500.11937/47719 |
| _version_ | 1848757911065460736 |
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| author | Mead, S. Uphill, J. Beck, J. Poulter, M. Campbell, T. Lowe, J. Adamson, G. Hummerich, H. Klopp, N. Ruckert, I. Wichmann, H. Azazu, D. Plagnol, V. Pako, W. Whitfield, J. Alpers, Michael Philip Whittaker, J. Balding, D. Zerr, I. Kretzschmar, H. Collinge, J. |
| author_facet | Mead, S. Uphill, J. Beck, J. Poulter, M. Campbell, T. Lowe, J. Adamson, G. Hummerich, H. Klopp, N. Ruckert, I. Wichmann, H. Azazu, D. Plagnol, V. Pako, W. Whitfield, J. Alpers, Michael Philip Whittaker, J. Balding, D. Zerr, I. Kretzschmar, H. Collinge, J. |
| author_sort | Mead, S. |
| building | Curtin Institutional Repository |
| collection | Online Access |
| description | Prion diseases are fatal neurodegenerative diseases of humans and animals caused by the misfolding and aggregation of prion protein (PrP). Mammalian prion diseases are under strong genetic control but few risk factors are known aside from the PrP gene locus (PRNP). No genome-wide association study (GWAS) has been done aside from a small sample of variant Creutzfeldt–Jakob disease (CJD). We conducted GWAS of sporadic CJD (sCJD), variant CJD (vCJD), iatrogenic CJD, inherited prion disease, kuru and resistance to kuru despite attendance at mortuary feasts. After quality control, we analysed 2000 samples and 6015 control individuals (provided by the Wellcome Trust Case Control Consortium and KORA-gen) for 491032- 511862 SNPs in the European study. Association studies were done in each geographical and aetiological group followed by several combined analyses. The PRNP locus was highly associated with risk in all geographical and aetiological groups. This association was driven by the known coding variation at rs1799990 (PRNP codon 129). No non-PRNP loci achieved genome-wide significance in the meta-analysis of all human prion disease. |
| first_indexed | 2025-11-14T09:35:36Z |
| format | Journal Article |
| id | curtin-20.500.11937-47719 |
| institution | Curtin University Malaysia |
| institution_category | Local University |
| last_indexed | 2025-11-14T09:35:36Z |
| publishDate | 2012 |
| publisher | Oxford University Press |
| recordtype | eprints |
| repository_type | Digital Repository |
| spelling | curtin-20.500.11937-477192017-09-13T15:58:10Z Genome-wide association study in multiple human prion diseases suggests genetic risk factors additional to PRNP Mead, S. Uphill, J. Beck, J. Poulter, M. Campbell, T. Lowe, J. Adamson, G. Hummerich, H. Klopp, N. Ruckert, I. Wichmann, H. Azazu, D. Plagnol, V. Pako, W. Whitfield, J. Alpers, Michael Philip Whittaker, J. Balding, D. Zerr, I. Kretzschmar, H. Collinge, J. Prion diseases are fatal neurodegenerative diseases of humans and animals caused by the misfolding and aggregation of prion protein (PrP). Mammalian prion diseases are under strong genetic control but few risk factors are known aside from the PrP gene locus (PRNP). No genome-wide association study (GWAS) has been done aside from a small sample of variant Creutzfeldt–Jakob disease (CJD). We conducted GWAS of sporadic CJD (sCJD), variant CJD (vCJD), iatrogenic CJD, inherited prion disease, kuru and resistance to kuru despite attendance at mortuary feasts. After quality control, we analysed 2000 samples and 6015 control individuals (provided by the Wellcome Trust Case Control Consortium and KORA-gen) for 491032- 511862 SNPs in the European study. Association studies were done in each geographical and aetiological group followed by several combined analyses. The PRNP locus was highly associated with risk in all geographical and aetiological groups. This association was driven by the known coding variation at rs1799990 (PRNP codon 129). No non-PRNP loci achieved genome-wide significance in the meta-analysis of all human prion disease. 2012 Journal Article http://hdl.handle.net/20.500.11937/47719 10.1093/hmg/ddr607 Oxford University Press unknown |
| spellingShingle | Mead, S. Uphill, J. Beck, J. Poulter, M. Campbell, T. Lowe, J. Adamson, G. Hummerich, H. Klopp, N. Ruckert, I. Wichmann, H. Azazu, D. Plagnol, V. Pako, W. Whitfield, J. Alpers, Michael Philip Whittaker, J. Balding, D. Zerr, I. Kretzschmar, H. Collinge, J. Genome-wide association study in multiple human prion diseases suggests genetic risk factors additional to PRNP |
| title | Genome-wide association study in multiple human prion diseases suggests genetic risk factors additional to PRNP |
| title_full | Genome-wide association study in multiple human prion diseases suggests genetic risk factors additional to PRNP |
| title_fullStr | Genome-wide association study in multiple human prion diseases suggests genetic risk factors additional to PRNP |
| title_full_unstemmed | Genome-wide association study in multiple human prion diseases suggests genetic risk factors additional to PRNP |
| title_short | Genome-wide association study in multiple human prion diseases suggests genetic risk factors additional to PRNP |
| title_sort | genome-wide association study in multiple human prion diseases suggests genetic risk factors additional to prnp |
| url | http://hdl.handle.net/20.500.11937/47719 |