Population diversity of the genetically determined TTR expression in human tissues and its implications in TTR amyloidosis
Iorio A, De Angelis F, Di Girolamo M, Luigetti M, Pradotto LG, Mazzeo A, Frusconi S, My F, Manfellotto D, Fuciarelli M, Polimanti R. Population diversity of the genetically determined TTR expression in human tissues and its implications in TTR amyloidosis. BMC Genomics 2017, 18: 254. PMID: 28335735, PMCID: PMC5364715, DOI: 10.1186/s12864-017-3646-1.Peer-Reviewed Original ResearchConceptsGenotype-phenotype correlationHuman populationComplex genotype-phenotype correlationsFamilial amyloidotic cardiomyopathyTTR expressionTTR amyloidosisGTEx projectGenome ProjectSkeletal muscle tissueAncestral groupsAncestry diversityRelevant tissuesScandinavian populationsAmyloidotic cardiomyopathyPopulation diversityAncestry groupsExpressionHuman tissuesDiversityMuscle tissueHereditary diseasePolygenic scoresTissueClinical variabilityLesser extent