|
rs5848
|
GRN;FAM171A2
|
Alzheimer's Disease
|
|
0.080 |
GeneticVariation |
BEFREE |
Alzheimer's Disease Neuroimaging Initiative cohort (ADNI; n=237) data, combining both multiplexed proteomics CSF and genotype data, were used to assess the association between CSF analytes and risk SNPs in four genes (SNPs): GRN (rs5848), TMEM106B (rs1990622), ABCC9 (rs704180), and KCNMB2 (rs9637454).
|
28189700 |
2017 |
|
rs5848
|
GRN;FAM171A2
|
Alzheimer's Disease
|
|
0.080 |
GeneticVariation |
BEFREE |
Stratified analyses showed associations of rs5848 with increased risk of AD and PD in the homozygous and recessive models.
|
25578179 |
2015 |
|
rs5848
|
GRN;FAM171A2
|
Alzheimer's Disease
|
|
0.080 |
GeneticVariation |
BEFREE |
The homozygous TT genotype of rs5848 may play a role in the genetic risk of AD development, especially in the elderly.
|
21212639 |
2011 |
|
rs5848
|
GRN;FAM171A2
|
Alzheimer's Disease
|
|
0.080 |
GeneticVariation |
BEFREE |
Genetic studies demonstrate an association of the common GRN rs5848 variant that results in reduced PGRN levels with increased risk for AD.
|
28070672 |
2017 |
|
rs5848
|
GRN;FAM171A2
|
Alzheimer's Disease
|
|
0.080 |
GeneticVariation |
BEFREE |
Similarly, the mRNA levels of granulin were decreased with respect to A allele of rs5848 in the inferior temporal cortex of neuropathologically confirmed AD patients.
|
22890097 |
2013 |
|
rs5848
|
GRN;FAM171A2
|
Alzheimer's Disease
|
|
0.080 |
GeneticVariation |
BEFREE |
Our data indicate that TT allele of rs5848 is associated with increased risk of AD, suggesting that genetic variant of progranulin gene may play an important role in AD development.
|
24680777 |
2014 |
|
rs5848
|
GRN;FAM171A2
|
Alzheimer's Disease
|
|
0.080 |
GeneticVariation |
BEFREE |
However, stratification according to gender revealed a significant male-specific allele, genotype and haplotype association between AD and GRN SNPs rs4792939, rs850713, and rs5848.
|
19016491 |
2009 |
|
rs5848
|
GRN;FAM171A2
|
Alzheimer's Disease
|
|
0.080 |
GeneticVariation |
BEFREE |
The result of the meta-analysis supported T allele of rs5848 within GRN as a risk factor for AD.
|
26820675 |
2017 |
|
rs5848
|
GRN;FAM171A2
|
Parkinson Disease
|
|
0.050 |
GeneticVariation |
BEFREE |
These findings show that the GRN rs5848 TT genotype and T allele are risk factors for female Taiwanese patients with PD.
|
23342160 |
2013 |
|
rs5848
|
GRN;FAM171A2
|
Parkinson Disease
|
|
0.050 |
GeneticVariation |
BEFREE |
This finding shows that GRN rs5848 does not affect the risk of Parkinson's disease in the US and Polish populations.
|
19473366 |
2009 |
|
rs5848
|
GRN;FAM171A2
|
Parkinson Disease
|
|
0.050 |
GeneticVariation |
BEFREE |
Reduced circulating GRN levels might be associated with PD risk by pathogenic factors different from rs5848 and rs646776 polymorphisms.
|
23398167 |
2013 |
|
rs5848
|
GRN;FAM171A2
|
Parkinson Disease
|
|
0.050 |
GeneticVariation |
BEFREE |
Stratified analyses showed associations of rs5848 with increased risk of AD and PD in the homozygous and recessive models.
|
25578179 |
2015 |
|
rs5848
|
GRN;FAM171A2
|
Parkinson Disease
|
|
0.050 |
GeneticVariation |
BEFREE |
The minor allele "T" of GRN rs5848 decreased the risk for PD (p = 0.0309, odds radio [OR], 0.86; 95% CI, 0.76-0.99).
|
26303052 |
2016 |
|
rs5848
|
GRN;FAM171A2
|
Frontotemporal dementia
|
|
0.040 |
GeneticVariation |
BEFREE |
In support of these findings, the neuropathology of homozygous rs5848 T-allele carriers frequently resembled the pathological FTLD-U subtype of GRN mutation carriers.
|
18723524 |
2008 |
|
rs5848
|
GRN;FAM171A2
|
Frontotemporal Lobar Degeneration
|
|
0.040 |
GeneticVariation |
BEFREE |
The evidence presented here suggests that variation at rs5848 does not contribute to the etiology of FTLD in the Dutch population.
|
19847305 |
2009 |
|
rs5848
|
GRN;FAM171A2
|
Frontotemporal dementia
|
|
0.040 |
GeneticVariation |
BEFREE |
The GRN risk SNP (rs5848_T) was associated with a pattern of atrophy in the dorsomedial frontal lobes bilaterally, remarkable since GRN is a risk factor for frontotemporal dementia.
|
27003218 |
2016 |
|
rs5848
|
GRN;FAM171A2
|
Frontotemporal Lobar Degeneration
|
|
0.040 |
GeneticVariation |
BEFREE |
We have attempted to rep</span>licate the association of rs5848</span> in three independent FTLD cohorts.
|
19446372 |
2011 |
|
rs5848
|
GRN;FAM171A2
|
Frontotemporal dementia
|
|
0.040 |
GeneticVariation |
BEFREE |
This is consistent with the finding that miR-659 binding to the high risk T allele of rs5848 may augment translational inhibition of GRN and alter risk of FTD and possibly other dementias.
|
21047645 |
2011 |
|
rs5848
|
GRN;FAM171A2
|
Frontotemporal Lobar Degeneration
|
|
0.040 |
GeneticVariation |
BEFREE |
A single nucleotide polymorphism GRN rs5848 (3'UTR+78 C>T) was reported to alter the risk for frontotemporal lobar degeneration.
|
23342160 |
2013 |
|
rs5848
|
GRN;FAM171A2
|
Frontotemporal Lobar Degeneration
|
|
0.040 |
GeneticVariation |
BEFREE |
The purpose of this meta-analysis was to investigate the association between progranulin polymorphism rs5848 and risk of the neurodegenerative diseases frontotemporal lobar degeneration (FTLD), Alzheimer's disease (AD), Parkinson's disease (PD), and amyotrophic lateral sclerosis (ALS).
|
25578179 |
2015 |
|
rs5848
|
GRN;FAM171A2
|
Frontotemporal dementia
|
|
0.040 |
GeneticVariation |
BEFREE |
A single nucleotide polymorphism in the 3'-untranslated region of the progranulin gene (GRN; 3'UTR+78C>T; rs5848) was reported to alter the risk for frontotemporal lobar degeneration with ubiquitin-positive inclusions (FTLD-U). rs5848 is located within a micro-RNA binding site and affects the expression of GRN.
|
19473366 |
2009 |
|
rs5848
|
GRN;FAM171A2
|
GRN-related frontotemporal dementia
|
|
0.030 |
GeneticVariation |
BEFREE |
Variation at GRN 3'-UTR rs5848 is not associated with a risk of frontotemporal lobar degeneration in Dutch population.
|
19847305 |
2009 |
|
rs5848
|
GRN;FAM171A2
|
Hippocampal sclerosis
|
|
0.030 |
GeneticVariation |
BEFREE |
GRN rs5848 T-allele but not APOE ε4 was associated with HpScl.
|
21346515 |
2012 |
|
rs5848
|
GRN;FAM171A2
|
Hippocampal sclerosis
|
|
0.030 |
GeneticVariation |
BEFREE |
For SNPs previously linked to hippocampal sclerosis, meta-analyses of Stage I results show OR = 1.16 for rs5848 (GRN) and OR = 1.22 rs1990622 (TMEM106B), with the risk alleles as previously described.
|
24770881 |
2014 |
|
rs5848
|
GRN;FAM171A2
|
Hippocampal sclerosis
|
|
0.030 |
GeneticVariation |
BEFREE |
644 cases of pathologically confirmed AD, including 57 with HpScl, were screened for TDP-43 immunoreactivity and were genotyped at the GRN 3'UTR single-nucleotide polymorphism rs5848 using previously published methods.
|
20197700 |
2010 |