Population diversity of the genetically determined TTR expression in human tissues and its implications in TTR amyloidosis.

ABSTRACT:

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 genetically determined TTR expression in 14 clinically relevant tissues were constructed using data from the GTEx (Genotype-Tissue Expression) project and tested in the samples from the 1,000 Genomes Project.

Results

We observed differences among the ancestral groups and, to a lesser extent, among the investigated populations within the ancestry groups. Scandinavian populat

SUBMITTER: Iorio A 

PROVIDER: S-EPMC5364715 | biostudies-literature | 2017 Mar

REPOSITORIES: biostudies-literature