|
Senile cardiac amyloidosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
The method was successfully tested using serum from ATTR patients with known variants (Val30-->Met and Val122-->Ile).
|
9949732 |
1999 |
|
Amyloidosis
|
|
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 |
|
Senile cardiac amyloidosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
The focus was on the phenotypic expression and survival in the majority of U.S. subjects with valine-to-isoleucine substitution at position 122 (Val122Ile) (n = 91) and wild-type ATTR (n = 189).
|
27386769 |
2016 |
|
Amyloidosis
|
|
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 |
|
Amyloidosis
|
|
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 |
|
Amyloidosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
Patients with ATTR V122I were identified in collaboration with the UK National Amyloidosis Centre.
|
22795285 |
2012 |
|
Senile cardiac amyloidosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
After the age of 60, isolated cardiac amyloidosis is four times more common among blacks than whites in the United States; 3.9 percent of blacks are heterozygous for an amyloidogenic allele of the normal serum carrier protein transthyretin in which isoleucine is substituted for valine at position 122 (Ile 122).
|
9017939 |
1997 |
|
Senile cardiac amyloidosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
Homozygosity for the V122I mutation in transthyretin is associated with earlier onset of cardiac amyloidosis in the African American population in the seventh decade of life.
|
24184229 |
2014 |
|
Amyloidosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
The V122I cardiomyopathy variant of transthyretin increases the velocity of rate-limiting tetramer dissociation, resulting in accelerated amyloidosis.
|
11752443 |
2001 |
|
Senile cardiac amyloidosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
The observations suggest that TTR V122I represents a substantial risk for clinically significant cardiac amyloidosis in elderly African American men, behaving as an age-dependent autosomal dominant disease-associated allele.
|
21600538 |
2011 |
|
Senile cardiac amyloidosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
Ten of 92 TTR V122I carriers with heart failure (11%) were diagnosed as having hATTR-CM; the median time from onset of symptoms to clinical diagnosis was 3 years.
|
31821430 |
2019 |
|
Amyloidosis
|
|
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 |
|
Amyloidosis
|
|
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 |
|
Senile cardiac amyloidosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
Prospective evaluation of the morbidity and mortality of wild-type and V122I mutant transthyretin amyloid cardiomyopathy: the Transthyretin Amyloidosis Cardiac Study (TRACS).
|
22877808 |
2012 |
|
Congestive heart failure
|
|
0.070 |
GeneticVariation
|
BEFREE |
After the age of 65 years (CHS), the frequencies of congestive heart failure (38% vs 15%, relative risk 2.62, P = .04) and mortality (76% vs 53%, relative risk 1.46, P = .08) were higher in V122I allele carriers than in age-, gender- and ethnically matched controls.
|
20435197 |
2010 |
|
Congestive heart failure
|
|
0.070 |
GeneticVariation
|
BEFREE |
This clinical algorithm may be useful for identification of ATTR V122I amyloidosis in elderly African American patients with HF.
|
28196196 |
2017 |
|
Congestive heart failure
|
|
0.070 |
GeneticVariation
|
BEFREE |
It appears to be far less common than the previously described Val122Ile mutation but onset may be at an earlier age, potentially making heart transplantation a viable option should heart failure become severe.
|
23126592 |
2012 |
|
Congestive heart failure
|
|
0.070 |
GeneticVariation
|
BEFREE |
We did not detect a significant difference in mortality between V122I TTR allele carriers and noncarriers, a finding that contrasts with prior observations; however, the risk of heart failure was increased among carriers.
|
25551524 |
2015 |
|
Congestive heart failure
|
|
0.070 |
GeneticVariation
|
BEFREE |
Among individuals of African or Hispanic/Latino ancestry enrolled in 2 academic medical center-based biobanks, the TTR V122I genetic variant was significantly associated with heart failure.
|
31821430 |
2019 |
|
Congestive heart failure
|
|
0.070 |
GeneticVariation
|
BEFREE |
Transthyretin amyloidosis associated with variant V122I (ATTR V122I) is likely to be an important cause of heart failure in Afro-Caribbean populations, but the high prevalence of left ventricular hypertrophy (LVH) and lack of awareness of this genetic disorder pose diagnostic hurdles.
|
22795285 |
2012 |
|
Congestive heart failure
|
|
0.070 |
GeneticVariation
|
BEFREE |
Patients with ATTR V122I had the worst prognosis compared with other causes of Afro-Caribbean heart failure and white patients.
|
27618855 |
2016 |
|
Heart failure
|
|
0.060 |
GeneticVariation
|
BEFREE |
We did not detect a significant difference in mortality between V122I TTR allele carriers and noncarriers, a finding that contrasts with prior observations; however, the risk of heart failure was increased among carriers.
|
25551524 |
2015 |
|
Heart failure
|
|
0.060 |
GeneticVariation
|
BEFREE |
Transthyretin amyloidosis associated with variant V122I (ATTR V122I) is likely to be an important cause of heart failure in Afro-Caribbean populations, but the high prevalence of left ventricular hypertrophy (LVH) and lack of awareness of this genetic disorder pose diagnostic hurdles.
|
22795285 |
2012 |
|
Heart failure
|
|
0.060 |
GeneticVariation
|
BEFREE |
Among individuals of African or Hispanic/Latino ancestry enrolled in 2 academic medical center-based biobanks, the TTR V122I genetic variant was significantly associated with heart failure.
|
31821430 |
2019 |
|
Heart failure
|
|
0.060 |
GeneticVariation
|
BEFREE |
This clinical algorithm may be useful for identification of ATTR V122I amyloidosis in elderly African American patients with HF.
|
28196196 |
2017 |