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rs2234246
|
|
|
0.010 |
GeneticVariation |
BEFREE |
This study demonstrated an association between TREM1 variant rs2234246 and brain amyloidosis.
|
31721052 |
2020 |
|
rs10163755
|
|
|
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 |
|
rs121918082
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We recruited 78 patients with hATTR amyloidosis associated with Glu89Gln mutation.
|
31826067 |
2019 |
|
rs140226130
|
|
|
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 |
|
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 |
|
rs554521234
|
|
|
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 |
|
rs63750231
|
|
|
0.010 |
GeneticVariation |
BEFREE |
To determine whether striatal Pittsburgh compound B (PiB)-PET measurements of amyloid-β can help predict disease severity in ADAD, we compared relationships of striatal and neocortical PiB-PET to age, tau-PET, and memory performance in the Colombian Presenilin 1 E280A kindred.
|
30717814 |
2019 |
|
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 |
|
rs80356710
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Conformational Dynamics in the Core of Human Y145Stop Prion Protein Amyloid Probed by Relaxation Dispersion NMR.
|
30276945 |
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 |
|
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 |
|
rs1217777010
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Glu34Lys is the only known charge inversion mutation in apoA-I that causes human amyloidosis.
|
30184436 |
2018 |
|
rs1309900188
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We report the first known case of a patient who had amyloidosis both due to a mutant transthyretin (p.Val122Ile) and due to a novel variant in the gelsolin gene (p.Ala578Pro).
|
30093168 |
2018 |
|
rs17070145
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The observation of APOE effects in only non-carriers of the rs17070145-T allele, in the presence of high Aβ-amyloid suggest that carriers of the rs17070145-T allele are conferred a level of resilience to the detrimental effects of high Aβ-amyloid and APOE ε4.
|
29391469 |
2018 |
|
rs387906523
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In addition, we compared the cytotoxicity of ATTR G47R, the amyloidosis-causing mutation in the case studied (n = 1), and Aβ in brains from patients with cerebral amyloid angiopathy (n = 6).
|
28960480 |
2018 |
|
rs535229743
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We report the first known case of a patient who had amyloidosis both due to a mutant transthyretin (p.Val122Ile) and due to a novel variant in the gelsolin gene (p.Ala578Pro).
|
30093168 |
2018 |
|
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 |
|
rs370579379
|
|
|
0.010 |
GeneticVariation |
BEFREE |
This clinical algorithm may be useful for identification of ATTR V122I amyloidosis in elderly African American patients with HF.
|
28196196 |
2017 |
|
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 |
|
rs73069071
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Using postmortem beta-amyloid immunohistochemistry data from 243 AD participants in the Religious Orders Study and Memory and Aging Project, we also observed similar rs73069071-by-beta-amyloid deposition interaction effect on global cognitive function (P<sub>one-tailed</sub>=0.005).
|
27021820 |
2017 |
|
rs121913549
|
|
|
0.010 |
GeneticVariation |
BEFREE |
To improve understanding of the processes involved we expressed human wild type (WT) lysozyme and the disease-associated variant F57I in the central nervous system (CNS) of a Drosophila melanogaster model of lysozyme amyloidosis, with and without co-expression of serum amyloid p component (SAP).
|
27428539 |
2016 |
|
rs1264519280
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Overall, our in vitro and in vivo studies establish an association between TTR V30M aggregates and autophagy impairment and suggest the use of autophagy modulators as an additional and alternative therapeutic approach for the treatment of TTR V30M-related amyloidosis.
|
27382986 |
2016 |
|
rs13031703
|
|
|
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 |
|
rs1335856860
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A novel transthyretin Lys70Glu (p.Lys90Glu) mutation presenting with vitreous amyloidosis and carpal tunnel syndrome.
|
26828956 |
2016 |
|
rs1475170339
|
|
|
0.010 |
GeneticVariation |
BEFREE |
It was also revealed that by reducing the disulfide bond and causing a decrease in the structural stability, the amyloid fibril formation of a familial mutant SOD1 G93A was accelerated even under physiological conditions.
|
26319711 |
2016 |