Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63750424
rs63750424
0.020 GeneticVariation BEFREE Frontotemporal dementia with parkinsonism linked to chromosome 17 with the MAPT R406W mutation presenting with a broad distribution of abundant senile plaques. 25377499

2015

dbSNP: rs781049584
rs781049584
APP
0.020 GeneticVariation BEFREE Valproic acid reduces neuritic plaque formation and improves learning deficits in APP(Swe) /PS1(A246E) transgenic mice via preventing the prenatal hypoxia-induced down-regulation of neprilysin. 24289518

2014

dbSNP: rs781049584
rs781049584
APP
0.020 GeneticVariation BEFREE In the present study we demonstrated that repeated hypoxia increased beta-amyloid (Abeta) generation and neuritic plaques formation by elevating beta-cleavage of APP in APP(swe)+PS1(A246E) transgenic mice. 18063223

2009

dbSNP: rs63750311
rs63750311
0.020 GeneticVariation BEFREE These findings suggest that (1) LB pathology can influence the clinical features of familial AD, (2) the E184D mutation of presenilin-1 may be associated with the LB formation through Abeta overproduction, although the process of LB formation is strongly affected by other unknown mechanisms, (3) in neurodegenerative disorders with LBs, there is a common pathophysiological background inducing NAC accumulation in neuritic plaques and astrocytes, and (4) the NAC accumulation in neuritic plaques is modulated by the abnormally aggregated tau protein. 12410385

2002

dbSNP: rs63750264
rs63750264
APP
0.020 GeneticVariation BEFREE Expression of apoE3 and apoE4 in APP(V717F) TG, apoE(-/-) mice resulted in fibrillar Abeta deposits and neuritic plaques by 15 months of age and substantially (>10-fold) more fibrillar deposits were observed in apoE4-expressing APP(V717F) TG mice. 10694577

2000

dbSNP: rs63750311
rs63750311
0.020 GeneticVariation BEFREE Immunostaining showed that Abeta42 was predominant over Abeta40 in neuritic plaques in both patients, whereas Abeta40 was found to be predominant over Abeta42 in cerebral amyloid angiopathy in the patient with E184D. 10644793

2000

dbSNP: rs63750424
rs63750424
0.020 GeneticVariation BEFREE The first R406W</span> brain showed many NFT in affected regions with only a few diffuse amyloid plaques. 11193139

2000

dbSNP: rs63750264
rs63750264
APP
0.020 GeneticVariation BEFREE The PDAPP transgenic mouse overexpresses human amyloid precursor protein V717F (PDAPP minigene) and develops age-related cerebral amyloid-beta protein (Abeta) deposits similar to senile plaques in Alzheimer's disease. 9278541

1997

dbSNP: rs34487851
rs34487851
0.010 GeneticVariation BEFREE Genome-wide significant pleiotropic associations were observed for the joint model of NP and NFT (NP + NFT) with the single-nucleotide polymorphism (SNP) rs34487851 upstream of C2orf40 (alias ECRG4, P = 2.4 × 10<sup>-8</sup>) and for the joint model of NFT and CAA (NFT + CAA) with the HDAC9 SNP rs79524815 (P = 1.1 × 10<sup>-8</sup>). 29458411

2018

dbSNP: rs79524815
rs79524815
0.010 GeneticVariation BEFREE Genome-wide significant pleiotropic associations were observed for the joint model of NP and NFT (NP + NFT) with the single-nucleotide polymorphism (SNP) rs34487851 upstream of C2orf40 (alias ECRG4, P = 2.4 × 10<sup>-8</sup>) and for the joint model of NFT and CAA (NFT + CAA) with the HDAC9 SNP rs79524815 (P = 1.1 × 10<sup>-8</sup>). 29458411

2018

dbSNP: rs6910730
rs6910730
0.010 GeneticVariation BEFREE We provide evidence that an intronic variant, rs6910730(G) , in TREM1, is associated with an increased burden of neuritic plaques (p = 3.7 × 10(-4) ), diffuse plaques (p = 4.1 × 10(-3) ), and Aβ density (p = 2.6 × 10(-3) ) as well as an increased rate of cognitive decline (p = 5.3 × 10(-3) ). 25545807

2015

dbSNP: rs10908821
rs10908821
0.010 GeneticVariation BEFREE Younger CCGCAC carriers (risk allele of rs2774276 and protective of rs10908821) were more likely to have non-neuritic and diffuse SP. 22390463

2012

dbSNP: rs2774276
rs2774276
0.010 GeneticVariation BEFREE Younger CCGCAC carriers (risk allele of rs2774276 and protective of rs10908821) were more likely to have non-neuritic and diffuse SP. 22390463

2012

dbSNP: rs2794521
rs2794521
CRP
0.010 GeneticVariation BEFREE Conversely, the low-CRP C allele (39.3%) of rs2794521 reduced the risk of harbouring early non-neuritic SP, compared to the TT genotype. 21831326

2011

dbSNP: rs3091244
rs3091244
CRP
0.010 GeneticVariation BEFREE In multivariate analyses (age- and APOE-adjusted), non-neuritic SP were associated with the high-CRP TA-genotype (3.0% prevalence) of rs3091244 and CA-genotype (10.8%) of rs3093075 compared to common genotypes. 21831326

2011

dbSNP: rs3093075
rs3093075
0.010 GeneticVariation BEFREE In multivariate analyses (age- and APOE-adjusted), non-neuritic SP were associated with the high-CRP TA-genotype (3.0% prevalence) of rs3091244 and CA-genotype (10.8%) of rs3093075 compared to common genotypes. 21831326

2011

dbSNP: rs63750579
rs63750579
APP
0.010 GeneticVariation BEFREE The APP(E693Q) mice did not develop amyloid plaques at any age studied, up to 30 months. 20641005

2010

dbSNP: rs1035071612
rs1035071612
0.010 GeneticVariation BEFREE In the present study, we have investigated the extent of amyloid beta protein (Abeta) deposition as cerebral amyloid angiopathy (CAA) or senile plaques (SP) in relationship to OLR1 +1071 and +1073 polymorphisms and LRP1 C766T polymorphism in patients with AD There was an increased Abeta40 load as CAA, but not as SP, in frontal cortex of AD patients carrying OLR1+1073 CC genotype, compared to those with CT, TT or CT+TT genotypes, but only in those individuals without apolipoprotein (APOE) epsilon4 allele. 16328515

2006

dbSNP: rs74315409
rs74315409
0.010 GeneticVariation BEFREE Susceptibility varied considerably depending on prions inoculated: highly susceptible to MM1 and MV1 types of sporadic Creutzfeldt-Jakob disease (CJD), developing disease within approximately 150 days, familial CJD with M232R mutation, and dura graft-associated CJD (dCJD) without amyloid plaque; less susceptible to MM2-type sporadic CJD and variant CJD, with some mice lacking any sign of transmission; and totally resistant to VV2 type sporadic CJD and dCJD with amyloid plaque. 14633630

2003

dbSNP: rs1412095491
rs1412095491
APP
0.010 GeneticVariation BEFREE Immunostaining showed that Abeta42 was predominant over Abeta40 in neuritic plaques in both patients, whereas Abeta40 was found to be predominant over Abeta42 in cerebral amyloid angiopathy in the patient with E184D. 10644793

2000

dbSNP: rs191838178
rs191838178
0.010 GeneticVariation BEFREE The first R406W</span> brain showed many NFT in affected regions with only a few diffuse amyloid plaques. 11193139

2000

dbSNP: rs63750215
rs63750215
0.010 GeneticVariation BEFREE Immunocytochemical examination of brains from individuals with the N141I PS2 mutation or eight different PS1 mutations, spanning the molecule from the second transmembrane domain to the large cytoplasmic loop domain, revealed immunodecoration of no senile plaques and only neurofibrillary tangles in the M139I PS1 mutation stained with PS1 antibodies. 11126202

2000

dbSNP: rs63750522
rs63750522
0.010 GeneticVariation BEFREE Immunocytochemical examination of brains from individuals with the N141I PS2 mutation or eight different PS1 mutations, spanning the molecule from the second transmembrane domain to the large cytoplasmic loop domain, revealed immunodecoration of no senile plaques and only neurofibrillary tangles in the M139I PS1 mutation stained with PS1 antibodies. 11126202

2000

dbSNP: rs765670175
rs765670175
0.010 GeneticVariation BEFREE Immunocytochemical examination of brains from individuals with the N141I PS2 mutation or eight different PS1 mutations, spanning the molecule from the second transmembrane domain to the large cytoplasmic loop domain, revealed immunodecoration of no senile plaques and only neurofibrillary tangles in the M139I PS1 mutation stained with PS1 antibodies. 11126202

2000

dbSNP: rs63750671
rs63750671
APP
0.010 GeneticVariation BEFREE Presenile Alzheimer dementia characterized by amyloid angiopathy and large amyloid core type senile plaques in the APP 692Ala-->Gly mutation. 9754958

1998