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Association of the V122I hereditary transthyretin amyloidosis genetic variant with heart failure among individuals of African or Hispanic/Latino ancestry

JAMA Dec 18, 2019

Damrauer SM, Chaudhary K, Cho JH, et al. - Since hereditary transthyretin (TTR) amyloid cardiomyopathy (hATTR-CM) due to the TTR V122I variant is an autosomal-dominant disorder that causes heart failure in elderly people of African ancestry, researchers conducted this observational study to explore the connection between the TTR V122I variant and heart failure and identify rates of hATTR-CM diagnosis among carriers with heart failure. The sample consisted of 9,694 candidates from two biobank registries Findings revealed that there was a significant relationship of the transthyretin V122I genetic variant with heart failure. The transthyretin V122I genetic variant was significantly linked to heart failure among individuals of African or Hispanic/Latino ancestry.
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