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Variant-Sequence Transthyretin (Isoleucine 122) in Late-Onset Cardiac Amyloidosis in Black Americans

1997; Massachusetts Medical Society; Volume: 336; Issue: 7 Linguagem: Inglês

10.1056/nejm199702133360703

1533-4406

Daniel R. Jacobson, Raymond D. Pastore, Robert Yaghoubian, Immaculata Kane, Gloria Gallo, F Buck, Joel N. Buxbaum,

Neuroendocrine Tumor Research Advances

After the age of 60, isolated cardiac amyloidosis is four times more common among blacks than whites in the United States; 3.9 percent of blacks are heterozygous for an amyloidogenic allele of the normal serum carrier protein transthyretin in which isoleucine is substituted for valine at position 122 (Ile 122). We hypothesized that the high prevalence of transthyretin Ile 122 is at least partially responsible for the increased frequency of senile cardiac amyloidosis among blacks.