BIP! Finder - Phenome-wide association study of TTR and RBP4 genes in 361,194 individuals reveals novel insights in the genetics of hereditary and senile systemic amyloidoses

2019 • Phenome-wide association study of TTR and RBP4 genes in 361,194 individuals reveals novel insights in the genetics of hereditary and senile systemic amyloidoses

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

Venue: N/A

Type: Publication

Abstract: ABSTRACTTransthyretin (TTR) gene has a causal role in a hereditary form of amyloidosis (ATTRm) and is potentially involved in the risk of senile systemic amyloidosis (SSA). To understand the genetics of ATTRm and SSA, 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 tested, TTR non-coding variants were associated with 26 phenotypic traits after multiple testing correction. These included signs related to both... (read more)

Topics: Genetics Internal medicine

DOI: 10.1101/19001537

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External links: Crossref OpenAIRE

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