Article
Epigenomic Profiles of African-American Transthyretin Val122Ile Carriers Reveals Putatively Dysregulated Amyloid Mechanisms.
Circulation. Genomic and precision medicine - 1 Feb 2021
Pathak Gita A, Wendt Frank R, De Lillo Antonella, Nunez Yaira Z, Goswami Aranyak, De Angelis Flavio, Fuciarelli Maria, Kranzler Henry R, Gelernter Joel, Polimanti Renato
Abstract excerpt
BACKGROUND: The Val122Ile mutation in Transthyretin (TTR) gene causes a rare, difficult to diagnose hereditary form of cardiac amyloidosis. This mutation is most common in the United States and mainly present in people of African descent. The carriers have an increased risk of congestive heart failure, peripheral edema, and several other noncardiac phenotypes such as carpal tunnel syndrome, and arthroplasty which...
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