2019
Phenome-wide association study of TTR and RBP4 genes in 361,194 individuals reveals novel insights in the genetics of hereditary and wildtype transthyretin amyloidoses
De Lillo A, De Angelis F, Di Girolamo M, Luigetti M, Frusconi S, Manfellotto D, Fuciarelli M, Polimanti R. Phenome-wide association study of TTR and RBP4 genes in 361,194 individuals reveals novel insights in the genetics of hereditary and wildtype transthyretin amyloidoses. Human Genetics 2019, 138: 1331-1340. PMID: 31659433, DOI: 10.1007/s00439-019-02078-6.Peer-Reviewed Original ResearchConceptsNon-coding variantsPhenome-wide association studyAssociation studiesNovel insightsPhenotypic traitsMolecular basisPossible modifier genesRBP4 geneModifier genesRelevant phenotypesTTR locusGenesTTR functionTransthyretin amyloidosesMultiple testing correctionGene variationRBP4 variantsGeneticsPhenotypeTransthyretin geneTTR geneConvergent associationsHereditary formsClinical phenotypeVariants
2017
Non-coding variants contribute to the clinical heterogeneity of TTR amyloidosis
Iorio A, De Lillo A, De Angelis F, Di Girolamo M, Luigetti M, Sabatelli M, Pradotto L, Mauro A, Mazzeo A, Stancanelli C, Perfetto F, Frusconi S, My F, Manfellotto D, Fuciarelli M, Polimanti R. Non-coding variants contribute to the clinical heterogeneity of TTR amyloidosis. European Journal Of Human Genetics 2017, 25: 1055-1060. PMID: 28635949, PMCID: PMC5558178, DOI: 10.1038/ejhg.2017.95.Peer-Reviewed Original Research