2021
The integration of genetically-regulated transcriptomics and electronic health records highlights a pattern of medical outcomes related to increased hepatic transthyretin expression
Pathak GA, De Lillo A, Wendt FR, De Angelis F, Koller D, Mendoza B, Jacoby D, Miller EJ, Buxbaum JN, Polimanti R. The integration of genetically-regulated transcriptomics and electronic health records highlights a pattern of medical outcomes related to increased hepatic transthyretin expression. Amyloid 2021, 29: 110-119. PMID: 34935565, PMCID: PMC9213571, DOI: 10.1080/13506129.2021.2018678.Peer-Reviewed Original ResearchConceptsGenotype-Tissue Expression (GTEx) projectMulti-tissue analysisElectronic health recordsTTR amyloid formationGenetic regulationExpression projectRNA interferenceTranscriptomic profilesGene expressionExpression informationHepatic expressionHealth outcomesPhenotypic informationAmyloid formationHealth recordsCarpal tunnel syndromeTranscriptionTransthyretin expressionSystemic amyloidosesHepatic transcriptionPathological processesExpressionTunnel syndromeGastrointestinal diseasesSurgical procedures
2019
Increased Risk of Multiple Outpatient Surgeries in African-American Carriers of Transthyretin Val122Ile Mutation Is Modulated by Non-Coding Variants
Polimanti R, Nuñez YZ, Gelernter J. Increased Risk of Multiple Outpatient Surgeries in African-American Carriers of Transthyretin Val122Ile Mutation Is Modulated by Non-Coding Variants. Journal Of Clinical Medicine 2019, 8: 269. PMID: 30813263, PMCID: PMC6406512, DOI: 10.3390/jcm8020269.Peer-Reviewed Original Research