A Genome Wide Association Study Links Glutamate Receptor Pathway to Sporadic Creutzfeldt-Jakob Disease Risk
pmid: 25918841
pmc: PMC4412535
A Genome Wide Association Study Links Glutamate Receptor Pathway to Sporadic Creutzfeldt-Jakob Disease Risk
We performed a genome-wide association (GWA) study in 434 sporadic Creutzfeldt-Jakob disease (sCJD) patients and 1939 controls from the United Kingdom, Germany and The Netherlands. The findings were replicated in an independent sample of 1109 sCJD and 2264 controls provided by a multinational consortium. From the initial GWA analysis we selected 23 SNPs for further genotyping in 1109 sCJD cases from seven different countries. Five SNPs were significantly associated with sCJD after correction for multiple testing. Subsequently these five SNPs were genotyped in 2264 controls. The pooled analysis, including 1543 sCJD cases and 4203 controls, yielded two genome wide significant results: rs6107516 (p-value=7.62x10-9) a variant tagging the prion protein gene (PRNP); and rs6951643 (p-value=1.66x10-8) tagging the Glutamate Receptor Metabotropic 8 gene (GRM8). Next we analysed the data stratifying by country of origin combining samples from the pooled analysis with genotypes from the 1000 Genomes Project and imputed genotypes from the Rotterdam Study (Total n=12967). The meta-analysis of the results showed that rs6107516 (p-value=3.00x10-8) and rs6951643 (p-value=3.91x10-5) remained as the two most significantly associated SNPs. Rs6951643 is located in an intronic region of GRM8, a gene that was additionally tagged by a cluster of 12 SNPs within our top100 ranked results. GRM8 encodes for mGluR8, a protein which belongs to the metabotropic glutamate receptor family, recently shown to be involved in the transduction of cellular signals triggered by the prion protein. Pathway enrichment analyses performed with both Ingenuity Pathway Analysis and ALIGATOR postulates glutamate receptor signalling as one of the main pathways associated with sCJD. In summary, we have detected GRM8 as a novel, non-PRNP, genome-wide significant marker associated with heightened disease risk, providing additional evidence supporting a role of glutamate receptors in sCJD pathogenesis.
- University of Paris France
- University of Vienna Austria
- French National Centre for Scientific Research France
- Assistance Publique -Hopitaux De Paris France
- University of Göttingen Germany
/dk/atira/pure/subjectarea/asjc/1300/1311, Prions, genetics [Receptors, Metabotropic Glutamate], Science, PRNP protein, human, 10208 Institute of Neuropathology, 610, 610 Medicine & health, /dk/atira/pure/subjectarea/asjc/2800/2804, 1100 General Agricultural and Biological Sciences, GRM8, methods [Genome-Wide Association Study], Receptors, Metabotropic Glutamate, /dk/atira/pure/subjectarea/asjc/2800/2808, Polymorphism, Single Nucleotide, Creutzfeldt-Jakob Syndrome, Prion Proteins, Cellular and Molecular Neuroscience, 1300 General Biochemistry, Genetics and Molecular Biology, Germany, Genetics, GWAS, Humans, Netherlands, 1000 Multidisciplinary, metabotropic glutamate receptor 8, genetics [Prions], Q, R, Glutamate receptor, genetics [Creutzfeldt-Jakob Syndrome], United Kingdom, Neurology, Case-Control Studies, 570 Life sciences; biology, Sporadic CJD, [SDV.BBM.GTP] Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], EMC MM-01-39-09-A, Medicine, PRNP, Research Article, Genome-Wide Association Study, Signal Transduction, ddc: ddc:610
/dk/atira/pure/subjectarea/asjc/1300/1311, Prions, genetics [Receptors, Metabotropic Glutamate], Science, PRNP protein, human, 10208 Institute of Neuropathology, 610, 610 Medicine & health, /dk/atira/pure/subjectarea/asjc/2800/2804, 1100 General Agricultural and Biological Sciences, GRM8, methods [Genome-Wide Association Study], Receptors, Metabotropic Glutamate, /dk/atira/pure/subjectarea/asjc/2800/2808, Polymorphism, Single Nucleotide, Creutzfeldt-Jakob Syndrome, Prion Proteins, Cellular and Molecular Neuroscience, 1300 General Biochemistry, Genetics and Molecular Biology, Germany, Genetics, GWAS, Humans, Netherlands, 1000 Multidisciplinary, metabotropic glutamate receptor 8, genetics [Prions], Q, R, Glutamate receptor, genetics [Creutzfeldt-Jakob Syndrome], United Kingdom, Neurology, Case-Control Studies, 570 Life sciences; biology, Sporadic CJD, [SDV.BBM.GTP] Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], EMC MM-01-39-09-A, Medicine, PRNP, Research Article, Genome-Wide Association Study, Signal Transduction, ddc: ddc:610
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