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.
Highlights
Progranulin (PGRN) is widely expressed in many tissues, including the neuron and microglia of the central nervous system
The participating 239 patients consisted of 74 patients with Alzheimer’s disease (AD) dementia (ADD) [24], 47 with mild cognitive impairment (MCI) [25, 26], 30 with normal pressure hydrocephalus (NPH) [27], 16 with frontotemporal dementia (FTD) [28, 29], 7 with Parkinson’s disease (PD) [30], 16 with subjective memory impairment (SMI) [31], 27 with other neurodegenerative diseases, and 22 cognitively unimpaired (CU) participants with no history of neurological or psychiatric diseases
We explored serum PGRN levels, rs5848 genotypes, and their correlation with cerebrospinal fluid (CSF) AD biomarkers from individuals with neurodegenerative diseases from a Korean population
Summary
Progranulin (PGRN) is widely expressed in many tissues, including the neuron and microglia of the central nervous system. The exact function of PGRN in the brain remains unclear, previous studies suggested that PGRN might serve as a neurotrophic factor [1] and the down-regulation of PGRN might lead to neurodegeneration [2, 3]. Low PGRN levels have been associated with increased tau pathology. The pathogenic mechanism of GRN mutation is the loss of 50% functional PGRN [3, 8]. Based on this haplo-insufficiency mechanism, several studies reported reduced PGRN levels in the cerebrospinal fluid (CSF) or blood of patients with GRN mutations and proposed PGRN level as a useful biomarker for predicting GRN mutations [1, 9,10,11]
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