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Article

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 - 1 Dec 2019

De Lillo Antonella, De Angelis Flavio, Di Girolamo Marco, Luigetti Marco, Frusconi Sabrina, Manfellotto Dario, Fuciarelli Maria, Polimanti Renato

Abstract excerpt

Transthyretin (TTR) gene has a causal role in a hereditary form of amyloidosis (ATTRm) and is potentially involved in the risk of wild-type transthyretin amyloidosis (ATTRwt). To understand the genetics of ATTRm and ATTRwt, we conducted a phenome-wide association study of TTR gene in 361,194 participants of European descent testing coding and non-coding variants. Among the 382 clinically relevant phenotypes...

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PMID: 31659433
DOI: 10.1007/s00439-019-02078-6

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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