Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |