Article
Association of the transthyretin variant V122I with polyneuropathy among individuals of African ancestry.
Scientific reports - 2 Jun 2021
Parker Margaret M, Damrauer Scott M, Tcheandjieu Catherine, Erbe David, Aldinc Emre, Hawkins Philip N, Gillmore Julian D, Hull Leland E, Lynch Julie A, Joseph Jacob, Ticau Simina, Flynn-Carroll Alexander O, Deaton Aimee M, Ward Lucas D, Assimes Themistocles L, Tsao Philip S, Chang Kyong-Mi, Rader Daniel J, Fitzgerald Kevin, Vaishnaw Akshay K, Hinkle Gregory, Nioi Paul
Abstract excerpt
Hereditary transthyretin-mediated (hATTR) amyloidosis is an underdiagnosed, progressively debilitating disease caused by mutations in the transthyretin (TTR) gene. V122I, a common pathogenic TTR mutation, is found in 3-4% of individuals of African ancestry in the United States and has been associated with cardiomyopathy and heart failure. To better understand the phenotypic consequences of carrying V122I, we...
Topics
- Adult
- Aged
- Amino Acid Substitution
- Amyloid Neuropathies, Familial
- Biological Specimen Banks
- Black People
- Cardiomyopathies
- Female
- Gene Expression