rs76992529
|
|
|
0.100 |
GeneticVariation |
BEFREE |
<b>Background:</b> African-Americans (AAs) have a 3.5% carrier prevalence of <i>Transthyretin</i> (<i>TTR</i>) Val122Ile mutation (rs76992529), which is the genetic cause of a hereditary form of amyloidosis.
|
30813263 |
2019 |
rs76992529
|
|
|
0.100 |
GeneticVariation |
BEFREE |
A high prevalence of some mutations like Val122Ile which is identified in 3% of African Americans indicates the necessity of thorough investigation of patients suspected of having, or to be at risk of developing, TTR amyloidosis.
|
12553428 |
2002 |
rs76992529
|
|
|
0.100 |
GeneticVariation |
BEFREE |
ATTR V122I and AL are equally prevalent as the cause of cardiomyopathy in African Americans referred for a diagnosis of amyloidosis.
|
19781421 |
2009 |
rs76992529
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Our results highlighted that cis-regulatory variants may contribute to the cardiac TTR-related amyloidosis observed in patients carrier of Val122Ile mutation, the most common in population with African origin.
|
24111657 |
2013 |
rs76992529
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Patients with ATTR V122I were identified in collaboration with the UK National Amyloidosis Centre.
|
22795285 |
2012 |
rs76992529
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The V122I cardiomyopathy variant of transthyretin increases the velocity of rate-limiting tetramer dissociation, resulting in accelerated amyloidosis.
|
11752443 |
2001 |
rs76992529
|
|
|
0.100 |
GeneticVariation |
BEFREE |
There were a total of 226 patients with ATTRwt and ATTR V122I amyloidosis evaluated during the specified time frame with 155 and 71 patients in each cohort, respectively.
|
29424556 |
2018 |
rs76992529
|
|
|
0.100 |
GeneticVariation |
BEFREE |
There were no differences in survival between patients with a grade 1, grade 2 or grade 3 99mTc-DPD scan in ATTRwt (n = 369), V122I-associated ATTRm (n = 92) or T60A-associated ATTRm (n = 59) amyloidosis.
|
28159995 |
2017 |
rs76992529
|
|
|
0.100 |
GeneticVariation |
BEFREE |
This clinical algorithm may be useful for identification of ATTR V122I amyloidosis in elderly African American patients with HF.
|
28196196 |
2017 |
rs76992529
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Unexpectedly, in our amyloidosis referral centre, we identified five patients (15.1% of all TTRm diagnosed patients, three families, two singleton) with Val142Ile variant belonging to unrelated families of Caucasian origin.
|
26428663 |
2016 |
rs76992529
|
|
|
0.100 |
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 |
rs76992529
|
|
|
0.100 |
GeneticVariation |
BEFREE |
We studied 711 patients with wild-type ATTR-CM, 205 with hereditary ATTR-CM associated with the V1221 variant (V122I-hATTR-CM), and 118 with non-V122I-hATTR-CM at the UK National Amyloidosis Center between 2000 and 2017.
|
31109193 |
2019 |