rs748703149
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In a whole-exome sequencing study of a family with probable AD-type dementia without pathogenic variants in known autosomal dominant dementia disease genes and negative for the apolipoprotein E (APOE) ε4 allele, we identified an extremely rare TREM2 coding variant, that is, a glycine-to-tryptophan substitution at amino acid position 145 (NM_018965.3:c.433G>T/p.[Gly145Trp]).
|
31464095 |
2020 |
rs440446
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We tested if the ε4 major isoform of the APOE gene and rs405509 and rs440446 promoter and intron-1 polymorphisms predicted risk of any dementia or Alzheimer's disease with diagnoses derived from the Hospital Discharge and Causes of Death Registers in 1453 participants of the Helsinki Birth Cohort Study.
|
30293724 |
2019 |
rs1270059098
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In conclusion, our meta-analysis demonstrates that 5HT2A C10T, but not 5HTTLPR (L/S), might increase risk for AD.
|
29599928 |
2018 |
rs759721023
|
|
|
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 |
rs199768005
|
|
|
0.010 |
GeneticVariation |
BEFREE |
ApoE variant p.V236E is associated with markedly reduced risk of Alzheimer's disease.
|
24607147 |
2014 |
rs981058595
|
|
|
0.010 |
GeneticVariation |
BEFREE |
There was no difference in the I405V, C629A, and Taq1B polymorphisms between AD and control groups.
|
24468472 |
2014 |
rs1424027593
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Association between the ABCG2 C421A polymorphism and Alzheimer's disease.
|
23827224 |
2013 |
rs1167428194
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Nonetheless, the AD associated intronic haplotype is linked to the 338A variant of known ECE1b promoter variant, 338C>A (rs213045).
|
22693153 |
2012 |
rs1438607869
|
|
|
0.010 |
GeneticVariation |
BEFREE |
These results suggested that PEMT G523A is associated with AD and that the A allele is an APOE ε4-independent risk factor for AD among Han Chinese women.
|
21881829 |
2012 |
rs11542041
|
|
|
0.010 |
GeneticVariation |
BEFREE |
ApoE single nucleotide polymorphisms (SNPs) Cys112Arg (Epsilon-4), and Arg158Cys (Epsilon-2) have been implicated in cardiovascular and Alzheimer's disease, but their role in colorectal cancer (CRC) has not been extensively studied.
|
19455140 |
2009 |
rs533904656
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Meta-analyses on AD association with BACE1 exon 5, BACE1 intron 5, FE65 intron 13, CYP46 intron 2, alpha(1)-antichymotrypsine Ala17Thr, bleomycin hydrolase I443V, lectin-like oxidized low-density lipoprotein receptor (OLR1) 3'-UTR (+1071) and (+1073), and very-low-density lipoprotein receptor (VLDLR) 5'-UTR (CGG-repeat) polymorphisms.
|
17854420 |
2008 |
rs752600356
|
|
|
0.010 |
GeneticVariation |
BEFREE |
To determine whether M129V polymorphism is a risk factor for AD we analyzed a group of early-onset, and late-onset Polish AD patients.
|
16897605 |
2006 |
rs761592007
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Autosomal dominant Alzheimer's disease with early frontal lobe involvement associated with the Met239Ile mutation of Presenilin 2 gene.
|
22531416 |
2012 |
rs1233347077
|
|
|
0.020 |
GeneticVariation |
BEFREE |
IL-6 (-174 C/G) polymorphism is not a risk factor for late onset AD in a Polish population.
|
21225514 |
2011 |
rs1233347077
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Furthermore, there was no evidence of linkage disequilibrium between the VNTR and -174G/C polymorphisms, not supporting a previous reported additive effect of both IL-6 polymorphisms on AD risk.
|
19897004 |
2010 |
rs1440976751
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The G73A polymorphism of the CST3 genemay be associated with AD development.
|
18408364 |
2008 |
rs1440976751
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Recent studies have reported a genetic association between the 73 G/A polymorphism within exon 1 of the cystatin C gene and Alzheimer's disease (AD) with conflicting results.
|
16188386 |
2006 |
rs761592007
|
|
|
0.020 |
GeneticVariation |
BEFREE |
In a family with autopsy-confirmed Alzheimer disease, the authors found a mutation in the presenilin 2 (PS2) gene (PSEN2) that predicts a methionine-to-isoleucine change at PS2 residue 239 (M239I), at which a change to valine was known in another family.
|
10822446 |
2000 |
rs1081105
|
|
C |
0.700 |
GeneticVariation |
GWASCAT |
Genome-wide meta-analysis identifies new loci and functional pathways influencing Alzheimer's disease risk.
|
30617256 |
2019 |
rs769449
|
|
|
0.700 |
GeneticVariation |
GWASCAT |
Genome-wide analysis of genetic predisposition to Alzheimer's disease and related sex disparities.
|
30636644 |
2019 |
rs769450
|
|
G |
0.700 |
GeneticVariation |
GWASCAT |
Genome-wide analysis of genetic predisposition to Alzheimer's disease and related sex disparities.
|
30636644 |
2019 |
rs769452
|
|
C |
0.700 |
GeneticVariation |
GWASCAT |
Genome-wide meta-analysis identifies new loci and functional pathways influencing Alzheimer's disease risk.
|
30617256 |
2019 |
rs1081105
|
|
|
0.700 |
GeneticVariation |
GWASCAT |
GWAS on family history of Alzheimer's disease.
|
29777097 |
2018 |
rs769449
|
|
A |
0.700 |
GeneticVariation |
GWASCAT |
GWAS of cerebrospinal fluid tau levels identifies risk variants for Alzheimer's disease.
|
23562540 |
2013 |
rs7412
|
|
C |
0.720 |
GeneticVariation |
GWASCAT |
Genome-wide analysis of genetic predisposition to Alzheimer's disease and related sex disparities.
|
30636644 |
2019 |