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Modified Yeast-Two-Hybrid System to Identify Proteins Interacting with the Growth Factor Progranulin
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Published on: January 17, 2012

rs5848 polymorphism and serum progranulin level.

Ging-Yuek R Hsiung1, Alice Fok, Howard H Feldman

  • 1Division of Neurology, Department of Medicine, University of British Columbia, Vancouver, Canada. hsiung@interchange.ubc.ca

Journal of the Neurological Sciences
|November 5, 2010
PubMed
Summary
This summary is machine-generated.

The rs5848 polymorphism significantly impacts serum progranulin (PGRN) levels, with TT genotype carriers exhibiting the lowest levels. This finding is crucial for understanding the genetic underpinnings of Alzheimer's and related dementias.

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Area of Science:

  • Neuroscience
  • Genetics
  • Biochemistry

Background:

  • Genetic mutations in the GRN gene cause frontotemporal dementia (FTD) via haploinsufficiency.
  • The rs5848 polymorphism, particularly homozygous T allele carriers, is linked to an increased risk of FTD.
  • This polymorphism may influence progranulin levels, potentially affecting other dementia types.

Purpose of the Study:

  • To investigate the effect of the rs5848 polymorphism on serum progranulin (PGRN) levels.
  • To analyze this relationship in patients with Alzheimer's disease (AD) and related dementias.
  • To compare PGRN levels across different rs5848 genotypes and GRN mutation carriers.

Main Methods:

  • Serum progranulin (PGRN) levels were quantified using ELISA assays.
  • rs5848 genotypes were determined via TaqMan assays.
  • Blood samples were collected from dementia patients and healthy controls.

Main Results:

  • The rs5848 single nucleotide polymorphism (SNP) significantly influenced serum PGRN levels.
  • Individuals with the TT genotype had the lowest PGRN levels, while CC genotype carriers had the highest.
  • GRN mutation carriers showed significantly lower serum PGRN levels compared to all other groups.

Conclusions:

  • The rs5848 polymorphism significantly affects serum PGRN levels, with TT carriers having lower levels than CT and CC carriers.
  • This is consistent with miR-659 binding to the T allele of rs5848, potentially inhibiting GRN translation.
  • The rs5848 polymorphism may alter the risk for FTD and other dementia types.