Serum progranulin is not associated with rs5848 polymorphism in Korean patients with neurodegenerative diseases

PLoS One. 2022 Jan 27;17(1):e0261007. doi: 10.1371/journal.pone.0261007. eCollection 2022.

Abstract

Low serum progranulin (PGRN) is known to be associated with granulin (GRN) gene mutation and T alleles of GRN rs5848 polymorphism. However, there have been only a few Asian studies exploring these. We investigated the serum PGRN levels, rs5848 genotypes, and their relations with cerebrospinal fluid (CSF) Alzheimer's disease (AD) biomarkers in the Korean population. Serum PGRN levels, GRN rs5848 polymorphism, and GRN mutations were evaluated in 239 participants (22 cognitively unimpaired participants and 217 patients with neurodegenerative diseases). CSF AD biomarkers were also evaluated in 214 participants. There was no significant difference in the serum PGRN levels among the diagnostic groups. We could not find any GRN mutation carrier in our sample. The differences in the frequencies of the rs5848 genotypes among the clinical groups or the effects of the rs5848 genotypes on serum PGRN were not observed. There was no correlation between the serum PGRN level or rs5848 genotype and CSF AD biomarkers. Neither the T allele nor the TT genotype had an effect on the development of AD. Our results showed that serum PGRN levels were not associated with rs5848 genotypes, indicating that multiple single nucleotide polymorphisms might affect PGRN concentrations in an ethnicity-specific manner.

MeSH terms

  • Aged
  • Aged, 80 and over
  • Alzheimer Disease / blood
  • Alzheimer Disease / cerebrospinal fluid
  • Alzheimer Disease / genetics*
  • Biomarkers / cerebrospinal fluid
  • Case-Control Studies
  • Female
  • Genetic Association Studies
  • Genotyping Techniques
  • Humans
  • Male
  • Middle Aged
  • Mutation
  • Polymorphism, Single Nucleotide*
  • Progranulins / blood*
  • Progranulins / genetics*
  • Republic of Korea
  • Sequence Analysis, DNA

Substances

  • Biomarkers
  • GRN protein, human
  • Progranulins

Grants and funding

E-JK was supported by a fund (2018-ER6204-00, 2019-ER6202-00, 2020-ER6201-00, 2021-ER1004-00) by the Research of Korea Centers for Disease Control and Prevention and Basic Science Research Program through the National Research Foundation of Korea (NRF) funded by the Ministry of Education (2016R1D1A3B01007733). The funders had no role in study design, data collection, analysis, decision to publish, or preparation of the manuscript.