title: No association of PGRN 3'UTR rs5848 in frontotemporal lobar degeneration.
abstract: Frontotemporal lobar degeneration (FTLD) is a highly familial neurodegenerative disease. It has been claimed that homozygosity of the SNP rs5848 located in the 3'UTR of progranulin increases risk for FTLD. We have attempted to replicate the association of rs5848 in three independent FTLD cohorts. No association of rs5848 with FTLD was observed in any individual cohort nor was any observed when the data was combined. These data argue that rs5848 is not a risk factor for FTLD.
authors.affiliation: Clinical Neurosciences Research Group, Faculty of Human and Medical Sciences, University of Manchester, Oxford Road, Manchester, M13 9PT, UK.
authors.forename: Sara
authors.initials: S
authors.lastname: Rollinson
authors.forename: Jonathan D
authors.initials: JD
authors.lastname: Rohrer
authors.forename: Julie
authors.initials: J
authors.lastname: van der Zee
authors.forename: Kristel
authors.initials: K
authors.lastname: Sleegers
authors.forename: Simon
authors.initials: S
authors.lastname: Mead
authors.forename: Sebastiaan
authors.initials: S
authors.lastname: Engelborghs
authors.forename: John
authors.initials: J
authors.lastname: Collinge
authors.forename: Peter P
authors.initials: PP
authors.lastname: De Deyn
authors.forename: David M A
authors.initials: DM
authors.lastname: Mann
authors.forename: Christine
authors.initials: C
authors.lastname: Van Broeckhoven
authors.forename: Stuart M
authors.initials: SM
authors.lastname: Pickering-Brown
mesh_terms: D020413:3' Untranslated Regions / Q000235:genetics*; D000483:Alleles; D057174:Frontotemporal Lobar Degeneration / Q000235:genetics*; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D036341:Intercellular Signaling Peptides and Proteins / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D000077153:Progranulins
chemical_list: D020413:3' Untranslated Regions; C492314:GRN protein, human; D036341:Intercellular Signaling Peptides and Proteins; D000077153:Progranulins