|
rs2949506
|
|
|
0.010 |
GeneticVariation |
BEFREE |
These included signs related to both ATTRm and ATTRwt such as chronic ischaemic heart disease (rs140226130, p = 2.00 × 10<sup>-6</sup>), heart failure (rs73956431, p = 2.74 × 10<sup>-6</sup>), atrial fibrillation (rs10163755, p = 4.63 × 10<sup>-6</sup>), dysphagia (rs2949506, p = 3.95 × 10<sup>-6</sup>), intestine diseases (rs970866, p = 7.14 × 10<sup>-6</sup>) and anxiety (rs554521234, p = 8.85 × 10<sup>-6</sup>).
|
31659433 |
2019 |
|
rs744373
|
|
|
0.010 |
GeneticVariation |
BEFREE |
BIN1 loci were significantly associated with the levels of T-tau (rs744373: pc = 0.047, rs13031703: pc = 0.042) and P-tau (rs744373: pc = 0.044, rs13031703: pc = 0.019), but not with Aβ in CSF test.
|
27003210 |
2016 |
|
rs200538373
|
|
|
0.010 |
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 |
|
rs1045642
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In this study, we investigated a possible association between 2 common ABCB1 polymorphisms, G2677T/A (Ala893Ser/Thr) and C3435T, AD, and cerebrospinal fluid (CSF) levels of Aβ.
|
21478475 |
2011 |
|
rs201564694
|
|
|
0.010 |
GeneticVariation |
BEFREE |
To study the clinical and pathological characteristics of two patients with laryngeal apolipoprotein A-I (apoA-I)-derived (AApoAI) amyloidosis with the apolipoprotein A-I variants Leu174Ser and Leu178Pro, respectively.
|
19235761 |
2009 |
|
rs1217777010
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Glu34Lys is the only known charge inversion mutation in apoA-I that causes human amyloidosis.
|
30184436 |
2018 |
|
rs371425292
|
|
|
0.010 |
GeneticVariation |
BEFREE |
This strain, which over-expresses both the 695 amino acid isoform of human amyloid precursor protein (APP) with K670N and M671L mutations and presenilin 1 with the A246E mutation, has accelerated amyloidosis and plaque formation.
|
20630068 |
2010 |
|
rs529782627
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The K16N mutation is located exactly at the α-secretase cleavage site and influences both APP and Aβ.
|
22514144 |
2012 |
|
rs572842823
|
|
|
0.010 |
GeneticVariation |
BEFREE |
This strain, which over-expresses both the 695 amino acid isoform of human amyloid precursor protein (APP) with K670N and M671L mutations and presenilin 1 with the A246E mutation, has accelerated amyloidosis and plaque formation.
|
20630068 |
2010 |
|
rs63750847
|
|
|
0.010 |
GeneticVariation |
BEFREE |
This is the first report to show decreased Aβ levels in plasma in APP A673T carriers and thus provides evidence that lower Aβ levels throughout life may be protective against AD.Ann Neurol 2017;82:128-132.
|
28556232 |
2017 |
|
rs63751039
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The Arctic mutation (p.E693G/p.E22G)fs within the β-amyloid (Aβ) region of the β-amyloid precursor protein gene causes an autosomal dominant disease with clinical picture of typical Alzheimer's disease.
|
24252272 |
2013 |
|
rs763852444
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Alteration of this ASID by deletion or mutation, as is seen with the Flemish mutation (A21G), reduces its inhibitory potency and promotes Agamma production.
|
20062056 |
2010 |
|
rs781049584
|
|
|
0.010 |
GeneticVariation |
BEFREE |
This strain, which over-expresses both the 695 amino acid isoform of human amyloid precursor protein (APP) with K670N and M671L mutations and presenilin 1 with the A246E mutation, has accelerated amyloidosis and plaque formation.
|
20630068 |
2010 |
|
rs950592627
|
|
|
0.010 |
GeneticVariation |
BEFREE |
As the single substitution of Glu for Gln at position 22 of this peptide seems to be responsible for the manifestation of the more severe amyloidosis (Dutch-type), we decided to evaluate the aggregation characteristics of peptide analogs interchanging Glu and Gln residues at positions 22 and also 15 in the minor (12-24) (VHHQ(15)KLVFFAE(22)DV) fragment.
|
21904866 |
2011 |
|
rs10097505
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Further luciferase assay, data mining, and integrative analyses revealed that the AD-risk genotype AA of rs10097505 was associated with an increased Arc mRNA expression and an elevated Aβ level.
|
28108859 |
2018 |
|
rs73956431
|
|
|
0.010 |
GeneticVariation |
BEFREE |
These included signs related to both ATTRm and ATTRwt such as chronic ischaemic heart disease (rs140226130, p = 2.00 × 10<sup>-6</sup>), heart failure (rs73956431, p = 2.74 × 10<sup>-6</sup>), atrial fibrillation (rs10163755, p = 4.63 × 10<sup>-6</sup>), dysphagia (rs2949506, p = 3.95 × 10<sup>-6</sup>), intestine diseases (rs970866, p = 7.14 × 10<sup>-6</sup>) and anxiety (rs554521234, p = 8.85 × 10<sup>-6</sup>).
|
31659433 |
2019 |
|
rs970866
|
|
|
0.010 |
GeneticVariation |
BEFREE |
These included signs related to both ATTRm and ATTRwt such as chronic ischaemic heart disease (rs140226130, p = 2.00 × 10<sup>-6</sup>), heart failure (rs73956431, p = 2.74 × 10<sup>-6</sup>), atrial fibrillation (rs10163755, p = 4.63 × 10<sup>-6</sup>), dysphagia (rs2949506, p = 3.95 × 10<sup>-6</sup>), intestine diseases (rs970866, p = 7.14 × 10<sup>-6</sup>) and anxiety (rs554521234, p = 8.85 × 10<sup>-6</sup>).
|
31659433 |
2019 |
|
rs6265
|
|
|
0.050 |
GeneticVariation |
BEFREE |
BDNF Val66Met did not relate to the amount of Aβ or to the rate of Aβ accumulation in either group.
|
23769397 |
2013 |
|
rs6265
|
|
|
0.050 |
GeneticVariation |
BEFREE |
While allelic variation in BDNF Val66Met may influence Aβ+ related neurodegeneration and memory loss over the short term, this is not related to serum mBDNF.
|
28720165 |
2017 |
|
rs6265
|
|
|
0.050 |
GeneticVariation |
BEFREE |
Among Aβ+ women, ε4 carriers reported greater anxiety symptoms than non-ε4 carriers (d = 0.83), and female BDNF rs6265 Val66 Met allele carriers reported greater depressive symptoms (d = 0.29).
|
27742526 |
2016 |
|
rs6265
|
|
|
0.050 |
GeneticVariation |
BEFREE |
We aimed to determine the effect of BDNF Val66Met on cognitive function, hippocampal function, tau and amyloid-β in preclinical autosomal dominant Alzheimer's disease.
|
27521573 |
2016 |
|
rs6265
|
|
|
0.050 |
GeneticVariation |
BEFREE |
To examine the influence of the brain-derived neurotrophic factor (<i>BDNF</i>) Val66Met polymorphism on longitudinal cognitive trajectories in a large, cognitively healthy cohort enriched for Alzheimer disease (AD) risk and to understand whether β-amyloid (Aβ) burden plays a moderating role in this relationship.
|
28468845 |
2017 |
|
rs759834365
|
|
|
0.050 |
GeneticVariation |
BEFREE |
BDNF Val66Met did not relate to the amount of Aβ or to the rate of Aβ accumulation in either group.
|
23769397 |
2013 |
|
rs759834365
|
|
|
0.050 |
GeneticVariation |
BEFREE |
While allelic variation in BDNF Val66Met may influence Aβ+ related neurodegeneration and memory loss over the short term, this is not related to serum mBDNF.
|
28720165 |
2017 |
|
rs759834365
|
|
|
0.050 |
GeneticVariation |
BEFREE |
Among Aβ+ women, ε4 carriers reported greater anxiety symptoms than non-ε4 carriers (d = 0.83), and female BDNF rs6265 Val66 Met allele carriers reported greater depressive symptoms (d = 0.29).
|
27742526 |
2016 |