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000137909 1001_ $$aSanchez-Juan, Pascual$$b0
000137909 245__ $$aA genome wide association study links glutamate receptor pathway to sporadic Creutzfeldt-Jakob disease risk.
000137909 260__ $$aSan Francisco, California, US$$bPLOS$$c2014
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000137909 520__ $$aWe 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.
000137909 536__ $$0G:(DE-HGF)POF3-344$$a344 - Clinical and Health Care Research (POF3-344)$$cPOF3-344$$fPOF III$$x0
000137909 542__ $$2Crossref$$i2015-04-28$$uhttp://creativecommons.org/licenses/by/4.0/
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000137909 650_7 $$2NLM Chemicals$$aPRNP protein, human
000137909 650_7 $$2NLM Chemicals$$aPrion Proteins
000137909 650_7 $$2NLM Chemicals$$aPrions
000137909 650_7 $$2NLM Chemicals$$aReceptors, Metabotropic Glutamate
000137909 650_7 $$2NLM Chemicals$$ametabotropic glutamate receptor 8
000137909 650_2 $$2MeSH$$aCase-Control Studies
000137909 650_2 $$2MeSH$$aCreutzfeldt-Jakob Syndrome: genetics
000137909 650_2 $$2MeSH$$aGenome-Wide Association Study: methods
000137909 650_2 $$2MeSH$$aGermany
000137909 650_2 $$2MeSH$$aHumans
000137909 650_2 $$2MeSH$$aNetherlands
000137909 650_2 $$2MeSH$$aPolymorphism, Single Nucleotide
000137909 650_2 $$2MeSH$$aPrion Proteins
000137909 650_2 $$2MeSH$$aPrions: genetics
000137909 650_2 $$2MeSH$$aReceptors, Metabotropic Glutamate: genetics
000137909 650_2 $$2MeSH$$aSignal Transduction
000137909 650_2 $$2MeSH$$aUnited Kingdom
000137909 7001_ $$aBishop, Matthew T$$b1
000137909 7001_ $$aKovacs, Gabor G$$b2
000137909 7001_ $$aCalero, Miguel$$b3
000137909 7001_ $$aAulchenko, Yurii S$$b4
000137909 7001_ $$aLadogana, Anna$$b5
000137909 7001_ $$aBoyd, Alison$$b6
000137909 7001_ $$aLewis, Victoria$$b7
000137909 7001_ $$0P:(DE-2719)9000879$$aPonto, Claudia$$b8$$udzne
000137909 7001_ $$aCalero, Olga$$b9
000137909 7001_ $$aPoleggi, Anna$$b10
000137909 7001_ $$aCarracedo, Ángel$$b11
000137909 7001_ $$avan der Lee, Sven J$$b12
000137909 7001_ $$aStröbel, Thomas$$b13
000137909 7001_ $$aRivadeneira, Fernando$$b14
000137909 7001_ $$aHofman, Albert$$b15
000137909 7001_ $$aHaïk, Stéphane$$b16
000137909 7001_ $$aCombarros, Onofre$$b17
000137909 7001_ $$aBerciano, José$$b18
000137909 7001_ $$aUitterlinden, Andre G$$b19
000137909 7001_ $$aCollins, Steven J$$b20
000137909 7001_ $$aBudka, Herbert$$b21
000137909 7001_ $$aBrandel, Jean-Philippe$$b22
000137909 7001_ $$aLaplanche, Jean Louis$$b23
000137909 7001_ $$aPocchiari, Maurizio$$b24
000137909 7001_ $$0P:(DE-2719)2000058$$aZerr, Inga$$b25$$udzne
000137909 7001_ $$aKnight, Richard S G$$b26
000137909 7001_ $$aWill, Robert G$$b27
000137909 7001_ $$avan Duijn, Cornelia M$$b28
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