In:
PLOS ONE, Public Library of Science (PLoS), Vol. 17, No. 1 ( 2022-1-27), p. e0261007-
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.
Type of Medium:
Online Resource
ISSN:
1932-6203
DOI:
10.1371/journal.pone.0261007
DOI:
10.1371/journal.pone.0261007.t001
DOI:
10.1371/journal.pone.0261007.t002
DOI:
10.1371/journal.pone.0261007.t003
DOI:
10.1371/journal.pone.0261007.t004
DOI:
10.1371/journal.pone.0261007.s001
DOI:
10.1371/journal.pone.0261007.s002
DOI:
10.1371/journal.pone.0261007.s003
Language:
English
Publisher:
Public Library of Science (PLoS)
Publication Date:
2022
detail.hit.zdb_id:
2267670-3
Bookmarklink