Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63751273
rs63751273
0.050 GeneticVariation BEFREE In the present study, we report for the first time a significant upregulation of A2AR in patients suffering from frontotemporal lobar degeneration with the MAPT P301L mutation. 31599329

2019

dbSNP: rs63751273
rs63751273
0.050 GeneticVariation BEFREE Frontotemporal lobar degeneration due to P301L tau mutation showing apathy and severe frontal atrophy but lacking other behavioral changes: A case report and literature review. 29105852

2018

dbSNP: rs63751273
rs63751273
0.050 GeneticVariation BEFREE We found reduced mRNA and protein expression of FOXP2 in frontal cortex area 8 in Pick's disease, and frontotemporal lobar degeneration-tau linked to P301L mutation presenting with language impairment in comparison with age-matched controls and cases with parkinsonian variant progressive supranuclear palsy. 27497476

2016

dbSNP: rs63751273
rs63751273
0.050 GeneticVariation BEFREE Gene expression studies of cytokines and mediators of the immune response have been made in post-mortem human brain samples in AD, sPD, sporadic Creutzfeldt-Jakob disease (sCJD) subtypes MM1 and VV2, Pick's disease (PiD), progressive supranuclear palsy (PSP) and frontotemporal lobar degeneration linked to mutation P301L in MAPT Frontotemporal lobar degeneration-tau (FTLD-tau). 26861289

2016

dbSNP: rs63751273
rs63751273
0.050 GeneticVariation BEFREE We enrolled affected (n = 6) and unaffected at risk members (n = 73) of families carrying the FTLD associated progranulin Leu271LeufsX10 mutation; additionally, we included subjects affected by sporadic/familial FTLD (n = 65), controls (n = 75), and a family carrying the tau P301L mutation. 18768919

2008

dbSNP: rs1990622
rs1990622
0.040 GeneticVariation BEFREE Transmembrane Protein 106B SNP rs1990622 was recently shown to modify the risk of frontotemporal lobar degeneration with TDP-43 inclusions (FTD-TDP). 25096617

2015

dbSNP: rs5848
rs5848
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

dbSNP: rs1990622
rs1990622
0.040 GeneticVariation BEFREE Recent large genome-wide association studies have found variants in TMEM106B (top SNP rs1990622) as a strong risk factor for frontotemporal lobar degeneration. 24166182

2014

dbSNP: rs1990622
rs1990622
0.040 GeneticVariation BEFREE We investigated the rs1990622 polymorphism in relation to regional brain volumes to identify potential structures through which TMEM106B confers risk for frontotemporal lobar degeneration. 24731779

2014

dbSNP: rs5848
rs5848
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

dbSNP: rs1990622
rs1990622
0.040 GeneticVariation BEFREE We further identified a significant association of TMEM106B SNPs with plasma GRN levels in controls (top SNP rs1990622, corrected p = 0.002) and in peripheral blood samples a highly significant correlation was observed between TMEM106B and GRN mRNA expression in patients with FTLD (r = -0.63, p = 7.7 × 10(-5)) and controls (r = -0.49, p = 2.2 × 10(-10)). 21178100

2011

dbSNP: rs5848
rs5848
0.040 GeneticVariation BEFREE We have attempted to rep</span>licate the association of rs5848</span> in three independent FTLD cohorts. 19446372

2011

dbSNP: rs5848
rs5848
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

dbSNP: rs143624519
rs143624519
0.020 GeneticVariation BEFREE A novel variant in MAPT resulting in an alanine to threonine substitution at position 152 (A152T tau) has recently been described as a significant risk factor for both frontotemporal lobar degeneration and Alzheimer's disease. 30590647

2019

dbSNP: rs75932628
rs75932628
0.020 GeneticVariation BEFREE Our findings identified the rs75932628 and rs2234253 polymorphisms of the TREM2 gene as risk factors for FTLD in Caucasian populations. 29322490

2018

dbSNP: rs763841075
rs763841075
GRN
0.020 GeneticVariation BEFREE Alzheimer neuropathology without frontotemporal lobar degeneration hallmarks (TAR DNA-binding protein 43 inclusions) in missense progranulin mutation Cys139Arg. 27997711

2018

dbSNP: rs143624519
rs143624519
0.020 GeneticVariation BEFREE All seven participants with available brain autopsies (6 GRN+/A152T+, 1 GRN+/A152T-) showed frontotemporal lobar degeneration with TDP-43 inclusions (type A classification), which is characteristic of GRN carriers. 28594853

2017

dbSNP: rs75932628
rs75932628
0.020 GeneticVariation BEFREE A rare variant in TREM2 (p.R47H, rs75932628) was recently reported to increase the risk of Alzheimer's disease (AD) and, subsequently, other neurodegenerative diseases, i.e. frontotemporal lobar degeneration (FTLD), amyotrophic lateral sclerosis (ALS), and Parkinson's disease (PD). 25936935

2015

dbSNP: rs763841075
rs763841075
GRN
0.020 GeneticVariation BEFREE We describe three new patients affected by neurological syndromes included in the clinical spectrum of FTLD carrying the Cys139Arg genetic variant, thus suggesting a possible implication in the pathogenesis of FTLD. 24503614

2014

dbSNP: rs76980269
rs76980269
0.020 GeneticVariation BEFREE Neuronal nitric oxide synthase (NOS)1 C276T polymorphism was shown to increase the risk for frontotemporal lobar degeneration (FTLD). 19087148

2009

dbSNP: rs34637584
rs34637584
0.020 GeneticVariation BEFREE Screening for the LRRK2 G2019S and codon-1441 mutations in a pathological series of parkinsonian syndromes and frontotemporal lobar degeneration. 18353371

2008

dbSNP: rs76980269
rs76980269
0.020 GeneticVariation BEFREE The C276T SNP acts as risk factor for sporadic FTLD, possibly influencing NOS1 transcription. 18042235

2008

dbSNP: rs34637584
rs34637584
0.020 GeneticVariation BEFREE We identified a LRRK2 mutation leading to the G2019S amino acid substitution in a 79-year-old woman with frontotemporal lobar degeneration with ubiquitinated neuronal intranuclear inclusions (FTLD-U/NII) and a possible family history of tremor. 17151837

2007

dbSNP: rs3173615
rs3173615
0.010 GeneticVariation BEFREE This variant is in high LD with the TMEM106B non-synonymous variant p.T185S (rs3173615; r<sup>2</sup> = 0.98) which was previously identified as a protective variant for frontotemporal lobar degeneration (FTLD). 31456032

2020

dbSNP: rs63751180
rs63751180
GRN
0.010 GeneticVariation BEFREE Induced pluripotent stem cells (iPSCs) were generated from peripheral blood-derived erythroid progenitor cells obtained from a presymptomatic female carrying the heterozygous R418X progranulin (GRN) nonsense mutation, known to cause autosomal dominant frontotemporal lobar degeneration. 31707213

2019