Article
Population diversity of the genetically determined TTR expression in human tissues and its implications in TTR amyloidosis.
BMC genomics - 23 Mar 2017
Iorio Andrea, De Angelis Flavio, Di Girolamo Marco, Luigetti Marco, Pradotto Luca G, Mazzeo Anna, Frusconi Sabrina, My Filomena, Manfellotto Dario, Fuciarelli Maria, Polimanti Renato
Abstract excerpt
BACKGROUND: Transthyretin (TTR) amyloidosis is a hereditary disease with a complex genotype-phenotype correlation. We conducted a literature survey to define the clinical landscape of TTR amyloidosis across populations worldwide. Then, we investigated whether the genetically determined TTR expression differs among human populations, contributing to the differences observed in patients. Polygenic scores for...
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