The prevalence and distribution of the amyloidogenic transthyretin (TTR) V122I allele in Africa

ConclusionsOur data are consistent with a small number of founder carriers of the amyloidogenic TTR V122I (p.Val142Ile) allele in southern West Africa, with no apparent advantage or disadvantage of an allele carrying newborn reaching adulthood. In U.S. African Americans, the allele represents a significant risk for congestive heart failure late in life. If clinical penetrance is similar in African countries with high allele frequencies, then cardiac amyloidosis could also represent a significant cause of heart disease in the elderly in those populations. The substitution of isoleucine for valine at position 122 in the human protein transthyretin makes it subject to amyloid formation in vivo. The allele is found in 3.4 % of African Americans producing cardiac disease in many of the carriers late in life. The present study defines its prevalence across the African continent and shows the highest concentration in countries of West Africa, a small number of founders, and no apparent selective advantage or disadvantage in reaching adulthood.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: Original Article Source Type: research

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