|
Arthrogryposis
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
RYR3, MYOM2, ERGIC1, SPTBN4, and ABCA7 represent genes, identified in two or more families, for which mutations are probably causative for arthrogryposis.
|
31230720 |
2019 |
|
Autism Spectrum Disorders
|
0.010 |
Biomarker
|
disease |
BEFREE |
The double ABCX model of adaptation has been used to predict parental outcomes in parents of children with autism spectrum disorder (ASD), with predictors including child characteristics, pile up of demands, external resources, coping, parental perceptions, and internal resources.
|
31267283 |
2019 |
|
ovarian neoplasm
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
The expression of ABCA7 was higher in OC tissues than in adjacent noncancerous tissues.
|
30333865 |
2018 |
|
Malignant neoplasm of ovary
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
The expression of ABCA7 was higher in OC tissues than in adjacent noncancerous tissues.
|
30333865 |
2018 |
|
Carcinoma, Ovarian Epithelial
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
The expression of ABCA7 was higher in OC tissues than in adjacent noncancerous tissues.
|
30333865 |
2018 |
|
Plaque, Amyloid
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
We found that ABCA7 loss doubled insoluble Aβ levels and amyloid plaques in the brain.
|
26517904 |
2015 |
|
Age related macular degeneration
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
We observed association of both disorders with genes in a region of chromosome 7, including PILRA and ZCWPW1 (peak AMD SNP rs7792525, minor allele frequency [MAF] = 19%, odds ratio [OR] = 1.14, p = 2.34 × 10(-6)), and with ABCA7 (peak AMD SNP rs3752228, MAF = 0.054, OR = 1.22, p = 0.00012).
|
24439028 |
2014 |
|
Familial lichen amyloidosis
|
0.010 |
Biomarker
|
disease |
BEFREE |
We identified a significant effect for APOE and nominate CLU, BIN1, and ABCA7 as additional risk loci for PCA and posterior AD.
|
24670887 |
2014 |
|
B-Cell Lymphomas
|
0.010 |
GeneticVariation
|
group |
BEFREE |
In fact, Nectin-2 (NC-2); apolipoprotein E (APOE); glycoprotein carcinoembryonic antigen related cell adhesion molecule-16 (CEACAM-16); B-cell lymphoma-3 (Bcl-3); translocase of outer mitochondrial membrane 40 homolog (T0MM-40); complement receptor-1 (CR-l); APOJ or clusterin and C-type lectin domain A family-16 member (CLEC-16A); Phosphatidyl inositol- binding clathrin assembly protein gene (PICALM); ATP-bonding cassette, sub family A, member 7 (ABCA7); membrane spanning A4 (MSA4); CD2 associated protein (CD2AP); cluster of differentiation 33 (CD33); and ephrin receptor A1 (EPHA1) result in a genetic signature that might affect individual brain susceptibility to infection by the herpes virus family during aging, leading to neuronal loss, inflammation, and amyloid deposition.
|
21891868 |
2011 |
|
Autoimmune Diseases
|
0.010 |
GeneticVariation
|
group |
BEFREE |
Because these findings suggest a potential implication of ABCA7 and HA-1 in immune processes, we tested the hypothesis that allelic variants in both genes are associated with autoimmune disorders.
|
15593299 |
2005 |
|
Multiple Sclerosis
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
In cohorts of patients with systemic lupus erythematosus, rheumatoid arthritis and multiple sclerosis, no significant differences in the frequencies of ABCA7 and HA-1 allelic variants were observed relative to controls.
|
15593299 |
2005 |
|
Primary Sjögren's syndrome
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Genotypes of ABCA7 and HA-1 SNP were determined in three distinct Caucasian populations of patients with primary Sjögren's syndrome and ethnically matched controls.
|
15593299 |
2005 |
|
Sjogren's Syndrome
|
0.010 |
Biomarker
|
disease |
BEFREE |
The multispan transmembrane protein ABCA7 contains an extracellular domain that is recognized by antisera from patients with Sjögren's syndrome ("Sjögren-epitope").
|
15593299 |
2005 |
|
Neurodegenerative Disorders
|
0.020 |
Biomarker
|
group |
BEFREE |
We observed variant-metabolite associations at two loci (ABCA7, CHCHD2) that have been linked to neurodegenerative diseases.
|
31628463 |
2020 |
|
Dementia
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
Thus, in African Americans the interactive effects of ABCA7 rs3764650 and aerobic fitness likely compound overall ABCA7-related AD risk, and may contribute to health disparities whereby African Americans are at a higher risk for dementia, with double the prevalence of AD.
|
31024289 |
2019 |
|
Neurodegenerative Disorders
|
0.020 |
Biomarker
|
group |
BEFREE |
Additionally, recent research provided evidence that, along with other ABC transporters (ABCA1 and ABCA7), they might be cornerstones to tackle neurodegenerative diseases.
|
31189668 |
2019 |
|
Dementia
|
0.020 |
AlteredExpression
|
disease |
BEFREE |
ABCA7 genotype altered Aβ levels in cerebrospinal fluid in Alzheimer's disease without dementia.
|
30596067 |
2018 |
|
Mild cognitive disorder
|
0.020 |
AlteredExpression
|
disease |
BEFREE |
We identified 789 and 998 DEGs common to both blood and brain of AD and MCI subjects respectively, over 77% of which had the same regulation directions across tissues and disease status, including the known ABCA7, and the novel TYK2 and TCIRG1.
|
30478411 |
2018 |
|
Parkinson Disease
|
0.020 |
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 |
|
Mild cognitive disorder
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
ABCA7-rs3764650-C and EPHA1-rs11767557-A associated with increased rates of memory decline in subjects with a final diagnosis of MCI/LOAD.
|
25189118 |
2015 |
|
Parkinson Disease
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
None of the AD-susceptibility loci (ABCA7, APOE, CLU, CR1, and PICALM) showed statistically significant association with PD susceptibility.
|
23820587 |
2013 |
|
Mental deterioration
|
0.030 |
GeneticVariation
|
phenotype |
BEFREE |
Our findings imply that ABCA7 rs3764650 risk genotype may diminish the neuroprotective effects of aerobic fitness, and, they suggest differing risk patterns between cognitive decline and fitness by ABCA7 genotype.
|
31024289 |
2019 |
|
Mental deterioration
|
0.030 |
GeneticVariation
|
phenotype |
BEFREE |
We identified significant aggregate-level associations between cognitive decline and the gene regions BIN1, CD33, CELF1, CR1, HLA cluster, and MEF2C in the all-female cohort and significant associations with ABCA7, HLA cluster, MS4A6E, PICALM, PTK2B, SLC24A4, and SORL1 in the all-male cohort.
|
27005436 |
2016 |
|
Mental deterioration
|
0.030 |
AlteredExpression
|
phenotype |
BEFREE |
We found that ABCA7, CD33, and CR1 expression levels were associated with clinical dementia rating (CDR), with higher expression being associated with more advanced cognitive decline.
|
23226438 |
2012 |
|
Impaired cognition
|
0.040 |
GeneticVariation
|
disease |
BEFREE |
Our findings imply that ABCA7 rs3764650 risk genotype may diminish the neuroprotective effects of aerobic fitness, and, they suggest differing risk patterns between cognitive decline and fitness by ABCA7 genotype.
|
31024289 |
2019 |