|
Alzheimer's Disease
|
0.350 |
GeneticVariation
|
disease |
BEFREE |
Transethnic meta-analysis of rare coding variants in PLCG2, ABI3, and TREM2 supports their general contribution to Alzheimer's disease.
|
30705288 |
2019 |
|
Alzheimer's Disease
|
0.350 |
GeneticVariation
|
disease |
BEFREE |
We found that, in the progressive mild cognitive impairment group, rs5978930 was associated with total tau levels and rs16947151 was associated with cognitive function scores at baseline and over time, suggesting that ABI3 variants may be associated with cognitive decline and may influence AD onset through tau pathology.
|
31127786 |
2019 |
|
Alzheimer's Disease
|
0.350 |
GeneticVariation
|
disease |
BEFREE |
These OR estimates were maintained in the non-overlapping replication AD-control analysis, albeit at reduced significance (ABI3_rs616338-T OR = 1.44, p = 0.12; PLCG2_rs72824905-G OR = 0.66, p = 0.19).
|
30326945 |
2018 |
|
Alzheimer's Disease
|
0.350 |
Biomarker
|
disease |
CTD_human |
We observed three new genome-wide significant nonsynonymous variants associated with Alzheimer's disease: a protective variant in PLCG2 (rs72824905: p.Pro522Arg, P = 5.38 × 10<sup>-10</sup>, odds ratio (OR) = 0.68, minor allele frequency (MAF)<sub>cases</sub> = 0.0059, MAF<sub>controls</sub> = 0.0093), a risk variant in ABI3 (rs616338: p.Ser209Phe, P = 4.56 × 10<sup>-10</sup>, OR = 1.43, MAF<sub>cases</sub> = 0.011, MAF<sub>controls</sub> = 0.008), and a new genome-wide significant variant in TREM2 (rs143332484: p.Arg62His, P = 1.55 × 10<sup>-14</sup>, OR = 1.67, MAF<sub>cases</sub> = 0.0143, MAF<sub>controls</sub> = 0.0089), a known susceptibility gene for Alzheimer's disease.
|
28714976 |
2017 |
|
Alzheimer's Disease
|
0.350 |
AlteredExpression
|
disease |
BEFREE |
The App <sup>NL-G-F/NL-G-F</sup> cortex also had altered expression of genes (Abi3, Apoe, Bin2, Cd33, Ctsc, Dock2, Fcer1g, Frmd6, Hck, Inpp5D, Ly86, Plcg2, Trem2, Tyrobp) defined as risk factors for AD by genome-wide association study or identified as genetic nodes in late-onset AD.
|
29259249 |
2017 |
|
Alzheimer's Disease
|
0.350 |
GeneticVariation
|
disease |
BEFREE |
We observed three new genome-wide significant nonsynonymous variants associated with Alzheimer's disease: a protective variant in PLCG2 (rs72824905: rs72824905" genes_norm="5336">p.Pro522Arg, P = 5.38 × 10<sup>-10</sup>, odds ratio (OR) = 0.68, minor allele frequency (MAF)<sub>cases</sub> = 0.0059, MAF<sub>controls</sub> = 0.0093), a risk variant in ABI3 (rs616338: p.Ser209Phe, P = 4.56 × 10<sup>-10</sup>, OR = 1.43, MAF<sub>cases</sub> = 0.011, MAF<sub>controls</sub> = 0.008), and a new genome-wide significant variant in TREM2 (rs143332484: rs143332484" genes_norm="54209">p.Arg62His, P = 1.55 × 10<sup>-14</sup>, OR = 1.67, MAF<sub>cases</sub> = 0.0143, MAF<sub>controls</sub> = 0.0089), a known susceptibility gene for Alzheimer's disease.
|
28714976 |
2017 |
|
Presenile dementia
|
0.300 |
Biomarker
|
disease |
CTD_human |
Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease.
|
28714976 |
2017 |
|
Familial Alzheimer Disease (FAD)
|
0.300 |
Biomarker
|
disease |
CTD_human |
Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease.
|
28714976 |
2017 |
|
Alzheimer Disease, Late Onset
|
0.300 |
Biomarker
|
disease |
CTD_human |
Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease.
|
28714976 |
2017 |
|
Acute Confusional Senile Dementia
|
0.300 |
Biomarker
|
disease |
CTD_human |
Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease.
|
28714976 |
2017 |
|
Alzheimer's Disease, Focal Onset
|
0.300 |
Biomarker
|
disease |
CTD_human |
Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease.
|
28714976 |
2017 |
|
Alzheimer Disease, Early Onset
|
0.300 |
Biomarker
|
disease |
CTD_human |
Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease.
|
28714976 |
2017 |
|
Neoplasms
|
0.030 |
Biomarker
|
group |
BEFREE |
These data indicated that ABI3 is a tumor suppressor gene; however the mechanism through which ABI3 is silenced in thyroid carcinomas is unknown.
|
27036019 |
2016 |
|
Neoplasms
|
0.030 |
AlteredExpression
|
group |
BEFREE |
Ectopic expression of ABI3 was sufficient to lead to a lower transforming activity, reduced tumor in vitro growth properties, suppressed in vitro anchorage-independent growth and in vivo tumor formation while, cellular senescence increased.
|
21223585 |
2011 |
|
Neoplasms
|
0.030 |
Biomarker
|
group |
BEFREE |
Finally, the significance of DNA methylation in regulating gene promoters was shown by reinducing 4 methylated tumor suppressor genes (eg, VHL and ABI3) in IGHV unmutated samples using the methyl-inhibitor 5-aza-2'-deoxycytidine.
|
19897574 |
2010 |
|
Tumor Cell Invasion
|
0.020 |
Biomarker
|
phenotype |
BEFREE |
These genes include those involved in tryptophan metabolism (KYNU), cell growth (MUC1 and IL8), cell survival (BIRC3 and BCL3), cell migration and invasion (S100A4 and ABI3), multi-drug resistance (ABCC3) and angiogenesis (VEGFA and CCL2).
|
24932473 |
2014 |
|
Thyroid Neoplasm
|
0.020 |
AlteredExpression
|
disease |
BEFREE |
The present study investigated ABI3 expression in a large panel of benign and malignant thyroid tumors and explored a correlation between the expression of ABI3 and its potential partner ABI3-binding protein (ABI3BP).
|
21223585 |
2011 |
|
Thyroid Neoplasm
|
0.020 |
AlteredExpression
|
disease |
BEFREE |
Re-expression of ABI3-binding protein suppresses thyroid tumor growth by promoting senescence and inhibiting invasion.
|
18559958 |
2008 |
|
Tumor Cell Invasion
|
0.020 |
AlteredExpression
|
phenotype |
BEFREE |
Re-expression of ABI3-binding protein suppresses thyroid tumor growth by promoting senescence and inhibiting invasion.
|
18559958 |
2008 |
|
Mental deterioration
|
0.010 |
GeneticVariation
|
phenotype |
BEFREE |
Common Variants in ABI3 Influence Cerebrospinal Fluid Total Tau Levels and Cognitive Decline in Progressive Mild Cognitive Impairment Patients.
|
31127786 |
2019 |
|
Impaired cognition
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Common Variants in ABI3 Influence Cerebrospinal Fluid Total Tau Levels and Cognitive Decline in Progressive Mild Cognitive Impairment Patients.
|
31127786 |
2019 |
|
Mild cognitive disorder
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
We found that, in the progressive mild cognitive impairment group, rs5978930 was associated with total tau levels and rs16947151 was associated with cognitive function scores at baseline and over time, suggesting that ABI3 variants may be associated with cognitive decline and may influence AD onset through tau pathology.
|
31127786 |
2019 |
|
Dehydration
|
0.010 |
GeneticVariation
|
phenotype |
BEFREE |
This work thus, reveals the genetic and epigenetic essentials required for expression of the ABI3 gene, a crucial factor regulating dehydration stress signalling in Arabidopsis thaliana.
|
30019436 |
2018 |
|
Neurodegenerative Disorders
|
0.010 |
Biomarker
|
group |
BEFREE |
Although these findings require replication in larger cohorts, they suggest distinct effects of the microglial genes, ABI3 and PLCG2 in neurodegenerative diseases that harbor significant vs. low/no amyloid ß pathology.
|
30326945 |
2018 |
|
Lewy Body Disease
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
None of the other cohorts showed significant associations that were concordant with those for AD, although the DLB cohort had suggestive findings (Fisher's test: ABI3_rs616338-T OR = 1.79, p = 0.097; PLCG2_rs72824905-G OR = 0.32, p = 0.124).
|
30326945 |
2018 |