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... Mehr ...

Verfasser: Sanchez-Juan, Pascual
Bishop, Matthew T
Poleggi, Anna
Carracedo, Ángel
van der Lee, Sven J
Ströbel, Thomas
Rivadeneira, Fernando
Hofman, Albert
Haïk, Stéphane
Combarros, Onofre
Berciano, José
Uitterlinden, Andre G
Kovacs, Gabor G
Collins, Steven J
Budka, Herbert
Brandel, Jean-Philippe
Laplanche, Jean Louis
Pocchiari, Maurizio
Zerr, Inga
Knight, Richard S G
Will, Robert G
van Duijn, Cornelia M
Calero, Miguel
Aulchenko, Yurii S
Ladogana, Anna
Boyd, Alison
Lewis, Victoria
Ponto, Claudia
Calero, Olga
Dokumenttyp: Artikel
Erscheinungsdatum: 2014
Verlag/Hrsg.: PLOS
Schlagwörter: info:eu-repo/classification/ddc/610 / Case-Control Studies / Creutzfeldt-Jakob Syndrome: genetics / Genome-Wide Association Study: methods / Germany / Humans / Netherlands / Polymorphism / Single Nucleotide / Prion Proteins / Prions: genetics / Receptors / Metabotropic Glutamate: genetics / Signal Transduction / United Kingdom / PRNP protein / human / Prions / Metabotropic Glutamate / metabotropic glutamate receptor 8
Sprache: Englisch
Permalink: https://search.fid-benelux.de/Record/base-29174132
Datenquelle: BASE; Originalkatalog
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Link(s) : https://pub.dzne.de/record/137909