|
rs3764650
|
|
Alzheimer's Disease
|
|
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 |
|
rs3764650
|
|
Alzheimer's Disease
|
|
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
|
|
Alzheimer's Disease
|
|
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 |
|
rs78117248
|
|
Alzheimer's Disease
|
|
0.010 |
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
|
|
Alzheimer's Disease
|
|
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 |
|
rs4147929
|
|
Alzheimer's Disease
|
|
0.860 |
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
|
|
Alzheimer's Disease
|
|
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 |
|
rs3764650
|
|
Alzheimer's Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
Besides the previously reported APOE and CR1 loci, we found that the ABCA7 (rs3764650; P = .02) and CD2AP (rs9349407; P = .03) AD susceptibility loci are associated with neuritic plaque burden.
|
23836404 |
2013 |
|
rs4147929
|
|
Alzheimer's Disease
|
|
0.860 |
GeneticVariation
|
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 |
|
rs3764650
|
|
Alzheimer's Disease
|
|
0.900 |
GeneticVariation
|
GWASDB |
Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease.
|
21460840 |
2011 |
|
rs3764650
|
|
Alzheimer's Disease
|
|
0.900 |
GeneticVariation
|
GWASCAT |
Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease.
|
21460840 |
2011 |
|
rs3752246
|
|
Alzheimer's Disease
|
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
|
|
Alzheimer's Disease
|
G |
0.850 |
GeneticVariation
|
GWASCAT |
Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease.
|
21460841 |
2011 |
|
rs4147929
|
|
Alzheimer's Disease
|
|
0.860 |
GeneticVariation
|
GWASCAT |
Genome-wide association analysis of dementia and its clinical endophenotypes reveal novel loci associated with Alzheimer's disease and three causality networks: The GR@ACE project.
|
31473137 |
2019 |
|
rs4147929
|
|
Alzheimer's Disease
|
A |
0.860 |
GeneticVariation
|
GWASCAT |
Genome-wide meta-analysis identifies new loci and functional pathways influencing Alzheimer's disease risk.
|
30617256 |
2019 |
|
rs3752241
|
|
Alzheimer's Disease
|
G |
0.700 |
GeneticVariation
|
GWASCAT |
Genome-wide meta-analysis identifies new loci and functional pathways influencing Alzheimer's disease risk.
|
30617256 |
2019 |
|
rs111278892
|
|
Alzheimer's Disease
|
G |
0.700 |
GeneticVariation
|
GWASCAT |
Genome-wide meta-analysis identifies new loci and functional pathways influencing Alzheimer's disease risk.
|
30617256 |
2019 |
|
rs115550680
|
|
Alzheimer's Disease
|
|
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 |
|
rs115550680
|
|
Alzheimer's Disease
|
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
|
|
Alzheimer's Disease
|
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 |
|
rs4147929
|
|
Alzheimer's Disease
|
|
0.860 |
GeneticVariation
|
GWASCAT |
GWAS on family history of Alzheimer's disease.
|
29777097 |
2018 |
|
rs3795065
|
|
Alzheimer's Disease
|
|
0.700 |
GeneticVariation
|
GWASCAT |
GWAS on family history of Alzheimer's disease.
|
29777097 |
2018 |
|
rs3752231
|
|
Alzheimer's Disease
|
|
0.700 |
GeneticVariation
|
GWASCAT |
GWAS on family history of Alzheimer's disease.
|
29777097 |
2018 |
|
rs200538373
|
|
Alzheimer's Disease
|
|
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 |
|
rs148078867
|
|
Alzheimer's Disease
|
|
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 |