No association of PGRN 3'UTR rs5848 in frontotemporal lobar degeneration.
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.
Rollinson
Sara
S
Clinical Neurosciences Research Group, Faculty of Human and Medical Sciences, University of Manchester, Oxford Road, Manchester, M13 9PT, UK.
Rohrer
Jonathan D
JD
van der Zee
Julie
J
Sleegers
Kristel
K
Mead
Simon
S
Engelborghs
Sebastiaan
S
Collinge
John
J
De Deyn
Peter P
PP
Mann
David M A
DM
Van Broeckhoven
Christine
C
Pickering-Brown
Stuart M
SM
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
D020413:3' Untranslated Regions; C492314:GRN protein, human; D036341:Intercellular Signaling Peptides and Proteins; D000077153:Progranulins