|
rs111278892
|
|
G |
0.700 |
GeneticVariation |
GWASCAT |
Genome-wide meta-analysis identifies new loci and functional pathways influencing Alzheimer's disease risk.
|
30617256 |
2019 |
|
rs115550680
|
|
|
0.830 |
GeneticVariation |
BEFREE |
While ABCA7 rs115550680 has been linked to the development of late-onset AD in African Americans, no association between ABCA7 variant rs3764650 and AD has been found in this population.
|
31024289 |
2019 |
|
rs115550680
|
|
G |
0.830 |
GeneticVariation |
GWASCAT |
Genome-wide significance in fully adjusted models (sex, age, APOE genotype, population stratification) was observed for a SNP in ABCA7 (rs115550680, allele = G; frequency, 0.09 cases and 0.06 controls; odds ratio [OR], 1.79 [95% CI, 1.47-2.12]; P = 2.2 × 10(-9)), which is in linkage disequilibrium with SNPs previously associated with Alzheimer disease in Europeans (0.8 < D' < 0.9).
|
23571587 |
2013 |
|
rs115550680
|
|
G |
0.830 |
GeneticVariation |
GWASDB |
Genome-wide significance in fully adjusted models (sex, age, APOE genotype, population stratification) was observed for a SNP in ABCA7 (rs115550680, allele = G; frequency, 0.09 cases and 0.06 controls; odds ratio [OR], 1.79 [95% CI, 1.47-2.12]; P = 2.2 × 10(-9)), which is in linkage disequilibrium with SNPs previously associated with Alzheimer disease in Europeans (0.8 < D' < 0.9).
|
23571587 |
2013 |
|
rs115550680
|
|
|
0.830 |
GeneticVariation |
BEFREE |
Large-scale genome-wide association studies (GWAS) have revealed that the ABCA7 rs3764650 polymorphism (or its proxies, namely rs115550680, rs3752246, and rs4147929) is associated with Alzheimer's disease (AD) susceptibility in individuals of Caucasian ancestry.
|
24643655 |
2014 |
|
rs115550680
|
|
|
0.830 |
GeneticVariation |
BEFREE |
Genome-wide significance in fully adjusted models (sex, age, APOE genotype, population stratification) was observed for a SNP in ABCA7 (rs115550680, allele = G; frequency, 0.09 cases and 0.06 controls; odds ratio [OR], 1.79 [95% CI, 1.47-2.12]; P = 2.2 × 10(-9)), which is in linkage disequilibrium with SNPs previously associated with Alzheimer disease in Europeans (0.8 < D' < 0.9).
|
23571587 |
2013 |
|
rs148078867
|
|
|
0.010 |
GeneticVariation |
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 |
|
rs200538373
|
|
|
0.020 |
GeneticVariation |
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 |
|
rs200538373
|
|
|
0.020 |
GeneticVariation |
BEFREE |
We investigated the association of Alzheimer's disease (AD)-related rare variants APP A673T and ABCA7 rs200538373-C with the levels of β-amyloid (Aβ) and parameters of metabolic and cardiovascular health in a population-based cohort of healthy middle-aged and elderly men.
|
28556232 |
2017 |
|
rs3752231
|
|
|
0.700 |
GeneticVariation |
GWASCAT |
GWAS on family history of Alzheimer's disease.
|
29777097 |
2018 |
|
rs3752232
|
|
|
0.010 |
GeneticVariation |
BEFREE |
There were four significant associations between genotypes and phenotypes of AD patients: CR1 SNP rs11803956 correlated with Mini-Mental State Examination (MMSE) score (β=1.718, Pcorrected=0.002); ABCA7 SNP rs3752232 correlated with Rey Complex Figure Test (RCFT) copy score (β=-6.861, Pcorrected=0.013); APOE SNP rs2075650 correlated with the percentile of RCFT copy score (β=14.005, Pcorrected=0.021) and the percentile of total score in phonemic fluency (β=11.052, Pcorrected=0.035).
|
24530172 |
2014 |
|
rs3752241
|
|
G |
0.700 |
GeneticVariation |
GWASCAT |
Genome-wide meta-analysis identifies new loci and functional pathways influencing Alzheimer's disease risk.
|
30617256 |
2019 |
|
rs3752246
|
|
G |
0.850 |
GeneticVariation |
GWASDB |
Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease.
|
21460841 |
2011 |
|
rs3752246
|
|
|
0.850 |
GeneticVariation |
BEFREE |
Large-scale genome-wide association studies (GWAS) have revealed that the ABCA7 rs3764650 polymorphism (or its proxies, namely rs115550680, rs3752246, and rs4147929) is associated with Alzheimer's disease (AD) susceptibility in individuals of Caucasian ancestry.
|
24643655 |
2014 |
|
rs3752246
|
|
|
0.850 |
GeneticVariation |
BEFREE |
An intronic low-frequency variant rs78117248 (minor allele frequency 3·8% in 58 patients with Alzheimer's disease and in controls 1·8% in 28 controls) showed strongest association with Alzheimer's disease (odds ratio 2·07, 95% CI 1·31-3·27; p=0·0016), and remained significant after conditioning for the GWAS top single nucleotide polymorphisms rs3764650, rs4147929, and rs3752246 (2·00, 1·22-3·26; p=0·006).
|
26141617 |
2015 |
|
rs3752246
|
|
G |
0.850 |
GeneticVariation |
GWASCAT |
Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease.
|
21460841 |
2011 |
|
rs3752246
|
|
|
0.850 |
GeneticVariation |
BEFREE |
Our case-control study (416 AD patients and 302 controls) provides further data on the rs3752246 polymorphism in AD in the Hungarian population that has not been investigated so far regarding the ABCA7 gene variants.
|
30717989 |
2019 |
|
rs3752246
|
|
|
0.850 |
GeneticVariation |
BEFREE |
The novel ABCA7 SNP, rs3752246, tended to be associated with AD in our study.
|
23556446 |
2013 |
|
rs3752246
|
|
|
0.850 |
GeneticVariation |
BEFREE |
Three common loci were confirmed to increase the risk of AD (rs3764650: OR = 1.20, 95% CI = 1.16-1.24; rs3752246: OR = 1.13,95% CI = 1.08-1.19; rs4147929: OR = 1.17, 95% CI = 1.10-1.24), but the associations varied among the different races.
|
29782324 |
2018 |
|
rs3764650
|
|
|
0.900 |
GeneticVariation |
BEFREE |
The associations of rs3764650 with CSF Aβ<sub>1-42</sub>, t-tau and p-tau were analyzed in non-dementia AD, including preclinical and prodromal AD from the Alzheimer's Disease Neuroimaging Initiative (ADNI) cohort.
|
30596067 |
2018 |
|
rs3764650
|
|
|
0.900 |
GeneticVariation |
BEFREE |
An intronic low-frequency variant rs78117248 (minor allele frequency 3·8% in 58 patients with Alzheimer's disease and in controls 1·8% in 28 controls) showed strongest association with Alzheimer's disease (odds ratio 2·07, 95% CI 1·31-3·27; p=0·0016), and remained significant after conditioning for the GWAS top single nucleotide polymorphisms rs3764650, rs4147929, and rs3752246 (2·00, 1·22-3·26; p=0·006).
|
26141617 |
2015 |
|
rs3764650
|
|
|
0.900 |
GeneticVariation |
GWASDB |
Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease.
|
21460840 |
2011 |
|
rs3764650
|
|
|
0.900 |
GeneticVariation |
BEFREE |
After adjustment of age, sex, and APOE ε4 allele, rs3764650 remained to be an independent predictor of AD (p = 0.001).
|
24908168 |
2014 |
|
rs3764650
|
|
|
0.900 |
GeneticVariation |
BEFREE |
ABCA7 rs3764650 polymorphism was significantly associated with A</span>D risk (OR=1.21, 95% CI 1.16-1.26, P<0.00001; I2=5%).
|
29441941 |
2017 |
|
rs3764650
|
|
|
0.900 |
GeneticVariation |
BEFREE |
A comprehensive literature search for studies involving the association between gene polymorphisms and AD was performed, and we finally selected 3 genes (4 polymorphisms) for the meta-analysis: ABCA7 (rs3764650), CD33 (rs3865444), and TOMM40 (rs157580, rs2075650).
|
26795201 |
2016 |