Significant association of a M129V independent polymorphism in the 5′ UTR of the <i>PRNP</i> gene with sporadic Creutzfeldt-Jakob disease in a large German case-control study

Abstract excerpt

BACKGROUND: A single nucleotide polymorphism (SNP) in the coding region of the prion protein gene (PRNP) at codon 129 has been repeatedly shown to be an associated factor to sporadic Creutzfeldt-Jakob disease (sCJD), but additional major predisposing DNA variants for sCJD are still unknown. Several previous studies focused on the characterisation of polymorphisms in PRNP and the prion-like doppel gene (PRND),...

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