Genetic variation usually prevalent in Black individuals increases risk of heart failure: JAMA

Birmingham: A new study published in the Journal of American Medical Association (JAMA) states that being a carrier of the TTR Val122Ile variation was strongly related to an elevated risk of heart failure among Black persons residing in the United States.

A genetic variation in the TTR gene (rs76992529; Val122Ile) causes misfolding of the tetrameric transthyretin protein complex, which accumulates as extracellular amyloid fibrils and resulting in hereditary transthyretin amyloidosis (population frequency: 3%-4%). As a result, Vibhu Parcha and colleagues carried out this investigation to quantify the correlation of the amyloidogenic Val122Ile TTR variation with the risk of heart failure and death in a large, geographically diversified population of Black people.

Retrospective population-based cohort analysis of 7514 self-identified Black people residing in the United States who took part in the REGARDS research and did not have heart failure at baseline. At the baseline visit, the individuals were enrolled (2003-2007). The majority of outcomes reached the end of their follow-up on December 31, 2018. Data on all-cause mortality were available until December 31, 2020. People with the TTR Val122Ile (rs76992529) genotype were considered for this investigation. The major result was unexpected cardiac failure. cardiovascular mortality, heart failure mortality, and all-cause death were the secondary outcomes. The multivariable Cox proportional hazards regression analysis took genetic ancestry, demographic, clinical, and social variables into account.