|
rs3764650
|
|
Alzheimer's Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
Recently, a large genome-wide association study has revealed that polymorphism of alleles and genotypes in rs3,764,650 within ABCA7 gene is associated with Alzheimer disease in whites.
|
24113560 |
2015 |
|
rs4147929
|
|
Alzheimer's Disease
|
|
0.860 |
GeneticVariation
|
BEFREE |
To evaluate AD risk conferred by <i>ABCA7</i> rs4147929:G>A and <i>CD33</i> rs3865444:C>A, we used a large Spanish population (1796 AD cases, 2642 controls).
|
29872490 |
2018 |
|
rs4147929
|
|
Alzheimer's Disease
|
|
0.860 |
GeneticVariation
|
BEFREE |
Including 178,304 individuals, the meta-analyzed odds ratio for Alzheimer's disease per one allele <i>ABCA7</i> rs4147929 increase was 1.15 (1.12-1.18).
|
29376091 |
2018 |
|
rs4147929
|
|
Alzheimer's Disease
|
|
0.860 |
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 |
|
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 |
|
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 |
|
rs4147929
|
|
Alzheimer's Disease
|
|
0.860 |
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
|
|
Alzheimer's Disease
|
|
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
|
|
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 |
|
rs3752246
|
|
Alzheimer's Disease
|
|
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
|
|
Alzheimer's Disease
|
|
0.850 |
GeneticVariation
|
BEFREE |
The novel ABCA7 SNP, rs3752246, tended to be associated with AD in our study.
|
23556446 |
2013 |
|
rs3752246
|
|
Alzheimer's Disease
|
|
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 |
|
rs115550680
|
|
Alzheimer's Disease
|
|
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
|
|
Alzheimer's Disease
|
|
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
|
|
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 |
|
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 |
|
rs200538373
|
|
Alzheimer's Disease
|
|
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 |
|
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 |
|
rs72973581
|
|
Alzheimer's Disease
|
|
0.010 |
GeneticVariation
|
BEFREE |
This locus harbors a low-frequency coding variant (p.G215S, rs72973581, minor allele frequency = 4.3%) conferring a modest but statistically significant protection against AD (p-value = 0.024, odds ratio = 0.57, 95% confidence interval = 0.41-0.80).
|
27289440 |
2016 |
|
rs3752232
|
|
Alzheimer's Disease
|
|
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 |
|
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 |