Genetics of prion diseases.
London, United Kingdom. In Curr Opin Genet Dev, 2013
Two recent genome wide association studies in human have identified four new loci of interest: ZBTB38-RASA2 in UK CJD cases and MTMR7 and NPAS2 in variant CJD.
Genome-wide study links MTMR7 gene to variant Creutzfeldt-Jakob risk.
Santander, Spain. In Neurobiol Aging, 2012
Rs4921542 (p = 1.6 × 10(-8)) is an intronic variant in the myotubularin related protein 7 gene (MTMR7), which is specifically expressed in the central nervous system (CNS) and dephosphorylates phosphatidylinositol 3-phosphate and inositol 1,3-bisphosphate.