Alzheimer's Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In particular, the rare AD associated polymorphism rs200538373 was associated with altered ABCA7 exon 41 splicing and an AD risk odds ratio of ∼1.9.
|
28655137 |
2017 |
Alzheimer's Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Genome-wide association studies and meta-analyses implicated that increased risk of developing Alzheimer's diseases (AD) has been associated with the ABCA7, APOE, BIN1, CASS4, CD2AP, CD33, CELF1, CLU, CR1, DSG2, EPHA1, FERMT2, HLA-DRB1, HLA-DRB4, INPP5D, MEF2C, MS4A4A, MS4A4E, MS4A6E, NME8, PICALM, PLD3, PTK2B, RIN3, SLC24A4, SORL1, and ZCWPW1 genes.
|
28199971 |
2017 |
Alzheimer's Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Contribution to Alzheimer's disease risk of rare variants in TREM2, SORL1, and ABCA7 in 1779 cases and 1273 controls.
|
28789839 |
2017 |
Alzheimer's Disease
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
Immunohistochemical analyses of human brain sections from AD and non-AD subjects revealed that ABCA7 is expressed in neuron and microglia cells in the cerebral cortex.
|
28373057 |
2017 |
Alzheimer's Disease
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
Additionally, the ABCA7 mRNA expression level in AD subjects was significantly correlated with Mini-Mental State Examination recall, the Alzheimer's Disease Assessment Scale total score, and the Clinical Dementia Rating score.
|
28222527 |
2017 |
Alzheimer's Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
All patients carrying a loss-of-function mutation in ABCA7 exhibited a classical Alzheimer disease phenotype, though with a striking wide onset age range, suggesting the influence of unknown modifying factors.
|
27037232 |
2016 |
Alzheimer's Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Thus, our study suggested that ABCA7 genotypes contribute to the AD risk through involvement in amyloid-β deposition on in vivo imaging, but not in tau pathology, brain atrophy, or decreased glucose metabolism.
|
27003212 |
2016 |
Alzheimer's Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The pooled effect of ABCA7 rs3764605 allele G was significantly associated with an increased the risk of AD (OR=1.20, 95% CI: 1.14-1.26, P value <0.001).
|
26795201 |
2016 |
Alzheimer's Disease
|
0.500 |
Biomarker
|
disease |
BEFREE |
Single nucleotide polymorphisms (SNPs) in and near ABCA7, BIN1, CASS4, CD2AP, CD33, CELF1, CLU, complement receptor 1 (CR1), EPHA1, EXOC3L2, FERMT2, HLA cluster (DRB5-DQA), INPP5D, MEF2C, MS4A cluster (MS4A3-MS4A6E), NME8, PICALM, PTK2B, SLC24A4, SORL1, and ZCWPW1 have been associated with Alzheimer's disease (AD) in large meta-analyses.
|
27005436 |
2016 |
Alzheimer's Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
These results confirm that ABCA7 LOF variants are enriched in patients with AD and extend this finding to predicted damaging missense variants.
|
27037229 |
2016 |
Alzheimer's Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Our study demonstrates a novel mechanism underlying how dysfunctions of ABCA7 contribute to the risk for AD.
|
27030769 |
2016 |
Alzheimer's Disease
|
0.500 |
Biomarker
|
disease |
BEFREE |
In summary, our study confirms the role of ABCA7 in AD and provides new insights that should address functional studies.
|
27289440 |
2016 |
Alzheimer's Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Recently, the largest genome-wide association study in AAs to date confirmed that six of the Alzheimer's disease (AD)-related genetic variants originally discovered in EA cohorts are also risk variants in AA; however, the risk attributable to many of the loci (e.g., APOE, ABCA7) differed substantially from previous studies in EA.
|
26092349 |
2016 |
Alzheimer's Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Brain regions most significantly associated with AD risk variants were the left postcentral gyrus with ABCA7 (rs4147929, p = 4.45 × 10<sup>-6</sup>), right superior frontal gyrus by ZCWPW1 (rs1476679, p = 5.12 × 10<sup>-6</sup>), and right postcentral gyrus by APOE (p = 6.91 × 10<sup>-6</sup>).
|
27718423 |
2016 |
Alzheimer's Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
To examine whether there is a genetic link for these diseases, we performed a case-control study in Chinese population to evaluate the association of AD genome-wide association studies top hits with both PD and cognitive function in PD, investigating 13 single-nucleotide polymorphisms in 9 genes (BIN1, CLU, ABCA7, CR1, PICALM, MS4A6A, CD33, MS4A4E, and CD2AP).
|
26724962 |
2016 |
Familial Alzheimer Disease (FAD)
|
0.500 |
GeneticVariation
|
disease |
ORPHANET |
ABCA7 rare variants and Alzheimer disease risk.
|
27037229 |
2016 |
Alzheimer's Disease
|
0.500 |
Biomarker
|
disease |
CTD_human |
We found that loss-of-function variants in ABCA7 confer risk of Alzheimer's disease in Icelanders (odds ratio (OR) = 2.12, P = 2.2 × 10(-13)) and discovered that the association replicated in study groups from Europe and the United States (combined OR = 2.03, P = 6.8 × 10(-15)).
|
25807283 |
2015 |
Alzheimer's Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The effect of loss-of-function mutations on ABCA7 expression was investigated with quantitative real-time PCR in post-mortem brains of patients (n=3) and control individuals (n=4); nonsense mediated mRNA decay was investigated in lymphoblast cell lines from three predicted loss-of-function mutation carriers from the cohort of 772 patients with Alzheimer's disease.
|
26141617 |
2015 |
Alzheimer's Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Similarly, the more prevalent late-onset forms of AD are associated with both coding and non-coding variants in genes such as SORL1, PICALM and ABCA7 that affect the production and clearance of Aβ.
|
25748120 |
2015 |
Alzheimer's Disease
|
0.500 |
Biomarker
|
disease |
BEFREE |
Finally, given the contributions of ABCA7 to AD pathogenesis, targeting ABCA7 might provide novel opportunities for AD therapy.
|
24878767 |
2015 |
Alzheimer's Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
To probe for a function of ABCA7 in vivo, we crossed Abca7(-/-) mice with J20 mice, an amyloidogenic transgenic AD mouse model [B6.Cg-Tg(PDGFB-APPSwInd)20Lms/J] expressing a mutant form of human APP bearing both the Swedish (K670N/M671L) and Indiana (V717F) familial AD mutations.
|
26517904 |
2015 |
Alzheimer's Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In total, we identified 78 potentially damaging rare variants (frequency <1%), including ABCA7 p.L400V in a family with Alzheimer's disease and LRRK2 p.R1514Q in 6 of 98 patients with Parkinson's disease (6.1%).
|
25174650 |
2015 |
Alzheimer's Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
An association with the known AD gene ABCA7 was replicated in several ancestries (discovery P=.0049, European P=.041, African American P=.043, and Asian P=.027), suggesting that exonic variants within this gene modify AD susceptibility.
|
25706306 |
2015 |
Alzheimer's Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We found that loss-of-function variants in ABCA7 confer risk of Alzheimer's disease in Icelanders (odds ratio (OR) = 2.12, P = 2.2 × 10(-13)) and discovered that the association replicated in study groups from Europe and the United States (combined OR = 2.03, P = 6.8 × 10(-15)).
|
25807283 |
2015 |
Alzheimer's Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
A complex association of ABCA7 genotypes with sporadic Alzheimer disease in Chinese Han population.
|
24113560 |
2015 |