No association of PGRN 3'UTR rs5848 in frontotemporal lobar degeneration

Neurobiol Aging. 2011 Apr;32(4):754-5. doi: 10.1016/j.neurobiolaging.2009.04.009. Epub 2009 May 14.


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.

MeSH terms

  • 3' Untranslated Regions / genetics*
  • Alleles
  • Frontotemporal Lobar Degeneration / genetics*
  • Gene Frequency
  • Genetic Association Studies
  • Genetic Predisposition to Disease
  • Genotype
  • Humans
  • Intercellular Signaling Peptides and Proteins / genetics*
  • Polymorphism, Single Nucleotide
  • Progranulins


  • 3' Untranslated Regions
  • GRN protein, human
  • Intercellular Signaling Peptides and Proteins
  • Progranulins