Variant-Sequence Transthyretin (Isoleucine 122) in Late-Onset Cardiac Amyloidosis in Black Americans
Open Access
- 13 February 1997
- journal article
- research article
- Published by Massachusetts Medical Society in New England Journal of Medicine
- Vol. 336 (7) , 466-473
- https://doi.org/10.1056/nejm199702133360703
Abstract
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.Keywords
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