{"database":"EGA","file_versions":[],"scores":null,"additional":{"omics_type":["Genomics"],"contact_person":["Simon Mead"],"full_dataset_link":["https://ega-archive.org/dacs/EGAC01000000007"],"host":["EGA"],"description":["EGA DAC EGAC01000000007"],"repository":["EGA"],"email":["s.mead@prion.ucl.ac.uk"],"pubmed_abstract":["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. SNPs at the ZBTB38-RASA2 locus were associated with CJD in the UK (rs295301, P = 3.13 × 10(-8); OR, 0.70) but these SNPs showed no replication evidence of association in German sCJD or in Papua New Guinea-based tests. A SNP in the CHN2 gene was associated with vCJD [P = 1.5 × 10(-7); odds ratio (OR), 2.36], but not in UK sCJD (P = 0.049; OR, 1.24), in German sCJD or in PNG groups. In the overall meta-analysis of CJD, 14 SNPs were associated (P < 10(-5); two at PRNP, three at ZBTB38-RASA2, nine at nine other independent non-PRNP loci), more than would be expected by chance. None of the loci recently identified as genome-wide significant in studies of other neurodegenerative diseases showed any clear evidence of association in prion diseases. Concerning common genetic variation, it is likely that the PRNP locus contains the only strong risk factors that act universally across human prion diseases. Our data are most consistent with several other risk loci of modest overall effects which will require further genetic association studies to provide definitive evidence."],"pubmed_title":["Genome-wide association study in multiple human prion diseases suggests genetic risk factors additional to PRNP."],"pubmed_authors":["Mead Simon S, Uphill James J, Beck John J, Poulter Mark M, Campbell Tracy T, Lowe Jessica J, Adamson Gary G, Hummerich Holger H, Klopp Norman N, Rückert Ina-Maria IM, Wichmann H-Erich HE, Azazi Dhoyazan D, Plagnol Vincent V, Pako Wandagi H WH, Whitfield Jerome J, Alpers Michael P MP, Whittaker John J, Balding David J DJ, Zerr Inga I, Kretzschmar Hans H, Collinge John J"],"pubmed_title_synonyms":["Genome-Wide Association, Prion-Induced, human being, Disorders, Encephalopathies, Genome Wide Association Analysis, Whole Genome Association Study, KURU, AI325101, Risk Factor Score, Human, Prion-Induced Disorders, Inherited, Risk Factors, GWA Studies, Homo sapiens, Studies, Man, Risk Factor, Correlates, GWA Study, Populations at Risk, Man (Taxonomy), GWA, Transmissible Dementias, Risk Score, prP33-35C, AltPrP, Population at Risk, Genome Wide Association Scan, Genome-Wide Association Studies, genetic, Social, Study, PrP-lt-C-gt-, Health Correlates, Disorder, PrP, prP27-30, Social Risk Factor, Transmissible Dementia, PrP27-30, prp(c), constitutitional genetic, Transmissible Spongiform, PrP<C>, Prion-Induced Disorder, Sinc, PRIP, p27-30, Prn, Modern, familial, PrPc, Inherited Human Transmissible Spongiform Encephalopathies, Factor, ASCR., Human Transmissible Spongiform Encephalopathies, Spongiform Encephalopathies, prion, Risk Factor Scores, Genome-Wide, Spongiform Encephalopathy, PrP33-35C, Transmissible Spongiform Encephalopathies, Genome Wide Association Study, Transmissible Spongiform Encephalopathy, prp, Score, PrPC, Whole Genome Association Analysis, Prion Protein Disease, CJD, Dementia, CD230, PrPSc, Factors, Social Risk Factors, Spongiform, Transmissible, Risk, Prion Protein Diseases, Dementias, Encephalopathy, Prion-Associated Disorders, cjd, human, Genome Wide Association Studies, Risk Scores, Social Risk, Health, GSS, Modern Man, Association Studies, Prn-p, inherited genetic, Prn-i, Association Study, AA960666, Prion Disease, hereditary, Prion Induced Disorder"],"pubmed_abstract_synonyms":["Genome-Wide Association, Disorders, Materials, NKEF-B, 2410041A17Rik, PNT-P1, Neurologic Diseases, Natural killer cell-enhancing factor B, EY3-1, fs(1)M34, Risk Factor Score, Variant Creutzfeldt Jakob Disease, CG30327, pityriasis rubra pilaris, prevention, DmelCG12051, Relative, Thiol-specific antioxidant protein, Inherited, Risk Factors, BCH, Neurologic Disorders, Associations, HEL-176, CG4601, Genetic Association, Analysis, D-ets-2, 3520, East, Correlates, ASCR, Animalia, C4BP, C4bp, A, ABC, strong, Correlation, GWA Study, C, Degenerative Condition, Creutzfeldt-Jakob disease, cyt5C, Genomes, DHO, Analyses, Torin, Sporadic CJD, Proline-rich protein, CG18572, Familial, Mink, Kuru Encephalopathy, Social, set, PrP-lt-C-gt-, Degenerative Neurologic Disease, Health Correlates, sample, ACT, Act, PRX2, Creutzfeldt, preventive therapy, NKEFB, Actin/BAP47, CTE-II, ARHGAP3, AACT, familial, Ratios, CTE-IIa, act, Ach1, hBACH, Diversities, ACH1, Inherited Human Transmissible Spongiform Encephalopathies, variant Creutzfeldt Jakob disease, Human Transmissible Spongiform Encephalopathies, prion, Genome-Wide, act42A, Candidate, GIG25, PrP33-35C, Genome Wide Association Study, Su(b), European, AFFX-Dros-ACTIN_M_r_at, GIG24, Relative Risks, vCJD, actin, A930014K01Rik, Prion Protein Disease, NkefB, LACH, CJD, Subacute Spongiform, Dementia, Dmel_CG6393, Jakob Creutzfeldt Disease, pntP2, DmelCG4027, Social Risk Factors, Pointed-P1, Transmissible, Degenerative Diseases, Familial Creutzfeldt-Jakob, Ets94F, INSDC_feature:gene, whole genome, Neurologic Disease, Controls, Prion-Associated Disorders, cjd, human, Creutzfeldt Jakob Disease, actin5C, GSS, hyaline, Band-8, Material, White, TPx-B, Association Study, BACH, humans, umat, l(1)Ab, Act5c, 0998/12, Prion-Induced, Gene Analyses, Encephalopathies, Genotype-Phenotype Association, KURU, Genome Wide Association Analysis, Genotype-Phenotype Correlation, Degenerative Neurologic Disorders, ACT5C, AI325101, protein-containing complex, animals, Bach, DUH3, kuru, Human, EG:8D8.5, DMPOINT1A, GWA Studies, Caucasian, Creutzfeldt Jacob, tough, Gene Products, Variant, Cell growth-inhibiting gene 24|25 protein, PPP1R171, Man, Risk Factor, Genotype-Phenotype Correlations, Variant Creutzfeldt-Jakob Disease, variant Creutzfeldt-Jakob disease, pointed-RC, familial prion disease, BRWS2, GWA, V-CJD (Variant-Creutzfeldt-Jakob Disease), Gene Identification, AltPrP, kuru encephalopathy, EK3-2, CG11420, Population at Risk, AL022839, V CJD (Variant Creutzfeldt Jakob Disease), fs(1)829, Study, Odds, l(3)07825, anon-EST:fe2D2, Neurologic, Jakob Creutzfeldt Syndrome, Neurologic Degenerative Diseases, Quality Controls, 65K, DmelCG18572, TDX1, Syndrome, Kuru, Degenerative Neurologic Diseases, Creutzfeldt-Jakob Disease, CG42257, Dmel_CG30327, prP27-30, Transmissible Dementia, CG17077, Spinal Cord, snp, PrP27-30, T11, prp(c), LAN, constitutitional genetic, Act-5C, TPx, Transmissible Spongiform, RHOGAP3, 42A, cg11478, Gene Analysis, Ets, Neurologic Disorder, sporadic CJD, CPS, grupo, p27-30, Proteins, dJ393D12.2, Factor, Heidenhain variant, Spongiform Encephalopathy, TSA, SOM172, TSE, native protein, Discovery, Familial Creutzfeldt-Jakob Diseases, beta-actin, Transmissible Spongiform Encephalopathy, M32055, Act42, Correlations, pnt-P1, pnt-P2, Caucasoid, Cross Product Ratio, Relative Risk, CD230, PrPSc, Spongiform, underdeveloped, ensemble, prophylaxis, PYR1, Neurologic Degenerative Conditions, Creutzfeldt-Jakob, multicellular animals, Gene Proteins, control, Association Studies, PLF-RP, DRORUD, Central Nervous System, Prn-p, Prn-i, BAP47, ACTSG, Prion Disease, hereditary, Bap47, POINT, CG8705, CJD (Creutzfeldt Jakob Disease), TDPX1, Png, PNG, ACTG, ACTE, Whole Genome Association Study, Familial Creutzfeldt-Jakob Disease, DmelCG17077, Thioredoxin peroxidase 1, metazoans, Neurologic Degenerative Condition, protein, Pnt, csp2, Act5, l(1)G0420, Neurodegenerative Diseases, CG11478, Prion-Induced Disorders, Odds Ratios, Sense Codon, png, Subacute Spongiform Encephalopathies, Encephalopathy Virus, New Variant, protein aggregate, Prion, prevention and control, Risk Ratio, PHI-1, Pnt-P1, Nervous System Degenerative Diseases, CHN2-3, DmelCG42257, Occidental, Man (Taxonomy), reference sample, Identification, Gene Discovery, hypoplasia, Association, Tdpx1, ABC14, Neurodegenerative Disorder, Genome-Wide Association Studies, Candidate Gene Identification, genetic, preventive measures, DmelCG11420, act 42A, PrP, Ac5C, Neurologic Degenerative Disease, CG4027, Mink Encephalopathy Virus, TPX1, MCOPCB7, associated, MTABC3, TR, PrP<C>, l(1)G0330, wide/broad, BIMP2, Sinc, PRIP, Genotype Phenotype Correlations, Prn, Modern, PRP, 1.11.1.15, white, D-Ets-2, ets94F, 0123/09, variant, ZNF921, LACH1, Candidate Gene Association Study, PrxII, Alpha-1-antichymotrypsin His-Pro-less, Creutzfeldt Jakob Syndrome, CG6393, prp, DFNA26, Score, Genetic Materials, New Guinea, Sense Codons, Whole Genome Association Analysis, PRXII, GAT, DFNA20, Genetic Material, Codons, Caucasians, Candidate Gene Association Studies, Factors, Risk, Genotype Phenotype Association, l(1)G0117, Control, Codon, common, Dementias, Actin, Encephalopathy, Quality, Genotype Phenotype Correlation., Genetic Diversity, Jakob-Creutzfeldt, New Variant Creutzfeldt-Jakob Disease, beta-actin/Bap47, PSORS2, l(1)G0486, ptd, l(1)G0245, Social Risk, PntP2, hereditary prion disease, wide, CARMA2, Health, l(1)G0009, Degenerative, ACTL3, Lach1, PntP1, E(E2F)3D, Cistron, inherited genetic, PNTP2, AA960666, Jakob-Creutzfeldt Disease, PNTP1, Gruppe, Prion Induced Disorder, l(1)G0010, human being, ETS2, Ets2, Gene, CG12051, broad, Serpin A3, cerebral degeneration disease, CIBZ, l(1)G0025, Jakob-Creutzfeldt Syndrome, pntegfr, 0608/07, Homo sapiens, resilient, reduced, Genotype-Phenotype Associations, Studies, Candidate Gene Analyses, Animal, tiny, study, Nervous System, act5C, Cross-Product Ratio, Populations at Risk, Risk Ratios, Diversity, Genetic, Sense, Jacob Disease, Transmissible Dementias, Risk Score, prP33-35C, RGD1310136, Ratio, pan-gnu, fs(1)M2, Neurodegenerative Disorders, Thioredoxin-dependent peroxide reductase 1, Genome Wide Association Scan, Act42a, Genotype Phenotype Associations, 1700027G07Rik, grupos, Disorder, Social Risk Factor, Familial Creutzfeldt Jakob Disease, Genotype-Phenotype, l(3)j1B7, Variation, Cte-II, Controlled, Subacute Spongiform Encephalopathy, small, Genetic Variations, l(1)G0177, Controlling, Disease, Cross-Product, New Variant Creutzfeldt Jakob Disease, Variations, Prion-Induced Disorder, protein complex, PrPc, Spongiform Encephalopathies, Risk Factor Scores, Cistrons, group, Cross-Product Ratios, Degenerative Neurologic Disorder, PSS1, Transmissible Spongiform Encephalopathies, CAD, transmissible spongiform encephalopathy, Metazoa, Protein, Genetic Diversities, Candidate Gene Analysis, PrPC, ACTA3, l(3)s118306, l(1)G0079, Degenerative Conditions, sporadic, PLCB3N, Genetic Association Study, Creutzfeldt Jacob Disease, Candidate Gene, Plfr, Prion Protein Diseases, VSCM, Risks, Rest, act 5C, CJD (Creutzfeldt-Jakob Disease), sample population, Genome Wide Association Studies, Papua, Risk Scores, Subacute, Protein Gene Products, Relative Odds, AOM172, Ets58AB, clear, Whites, Modern Man, Neurodegenerative Disease, HEL-S-2a, PTX1, Creutzfeldt-Jakob Diseases, groupe, Actin5C"],"additional_accession":[]},"is_claimable":false,"name":"MRC Prion Unit Data Access Committee","description":"Data Access Committee EGAC01000000007","dates":{"output":"2025-1-9"},"accession":"EGAC01000000007","cross_references":{"TAXONOMY":["9606"],"pubmed":["22210626"],"EGA":["EGAS00000000097","EGAD00010000202"]}}