Featured Publications
Genetic Liability to Posttraumatic Stress Disorder Symptoms and Its Association With Cardiometabolic and Respiratory Outcomes
Pathak G, Singh K, Choi K, Fang Y, Kouakou M, Lee Y, Zhou X, Fritsche L, Wendt F, Davis L, Polimanti R. Genetic Liability to Posttraumatic Stress Disorder Symptoms and Its Association With Cardiometabolic and Respiratory Outcomes. JAMA Psychiatry 2024, 81: 34-44. PMID: 37910111, PMCID: PMC10620678, DOI: 10.1001/jamapsychiatry.2023.4127.Peer-Reviewed Original ResearchConceptsPosttraumatic stress disorderBody mass indexMass General BrighamPTSD symptom severityElectronic health recordsSymptom severityRespiratory outcomesMass indexRisk factorsMedical outcomesHealth outcomesMendelian randomizationDisease categoriesGenetic liabilityMeta-analyzed associationsSignificant medical outcomesNonspecific chest painC-reactive proteinMental health disordersUK BiobankMultivariable Mendelian randomizationPosttraumatic stress disorder (PTSD) symptomsChest painCardiac dysrhythmiasTobacco smoking
2024
Distinguishing vulnerability and resilience to posttraumatic stress disorder evaluating traumatic experiences, genetic risk and electronic health records
Løkhammer S, Koller D, Wendt F, Choi K, He J, Friligkou E, Overstreet C, Gelernter J, Hellard S, Polimanti R. Distinguishing vulnerability and resilience to posttraumatic stress disorder evaluating traumatic experiences, genetic risk and electronic health records. Psychiatry Research 2024, 337: 115950. PMID: 38744179, PMCID: PMC11156529, DOI: 10.1016/j.psychres.2024.115950.Peer-Reviewed Original ResearchElectronic health recordsPosttraumatic stress disorderHealth recordsPTSD vulnerabilityUK Biobank (UKBPhenome-wide association studyRisk scorePhenotype risk scoreUs Research ProgramPolygenic risk scoresStress disorderAoU participantsUKB participantsPresence of posttraumatic stress disorderTrauma burdenGenetic riskPosttraumatic stress disorder symptomsAssociation studiesPheWASClinical comorbiditiesComorbid associationsEye conditionsAOUInverse relationshipMultiple phenotypes
2022
A MUC5B Gene Polymorphism, rs35705950-T, Confers Protective Effects Against COVID-19 Hospitalization but Not Severe Disease or Mortality
Verma A, Minnier J, Wan ES, Huffman JE, Gao L, Joseph J, Ho YL, Wu WC, Cho K, Gorman BR, Rajeevan N, Pyarajan S, Garcon H, Meigs JB, Sun YV, Reaven PD, McGeary JE, Suzuki A, Gelernter J, Lynch JA, Petersen JM, Zekavat SM, Natarajan P, Dalal S, Jhala DN, Arjomandi M, Gatsby E, Lynch KE, Bonomo RA, Freiberg M, Pathak GA, Zhou JJ, Donskey CJ, Madduri RK, Wells QS, Huang R, Polimanti R, Chang KM, Liao KP, Tsao PS, Wilson PWF, Hung A, O’Donnell C, Gaziano JM, Hauger RL, Iyengar S, Luoh SW, Initiative T. A MUC5B Gene Polymorphism, rs35705950-T, Confers Protective Effects Against COVID-19 Hospitalization but Not Severe Disease or Mortality. American Journal Of Respiratory And Critical Care Medicine 2022, 206: 1220-1229. PMID: 35771531, PMCID: PMC9746845, DOI: 10.1164/rccm.202109-2166oc.Peer-Reviewed Original ResearchConceptsCOVID-19 hospitalizationIdiopathic pulmonary fibrosisMillion Veteran ProgramHost Genetics InitiativeAcute respiratory syndrome coronavirus 2 infectionSevere acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infectionGene polymorphismsSyndrome coronavirus 2 infectionCoronavirus 2 infectionConfer protective effectsCOVID-19 positivityCoronavirus disease (COVID-19) infectionElectronic health recordsMVP subjectsPneumonia eventsClinical outcomesPulmonary fibrosisCOVID-19 Host Genetics InitiativeClinical eventsSevere outcomesProtective effectSevere diseaseRs35705950Disease severityMVP participantsUnderstanding the comorbidity between posttraumatic stress severity and coronary artery disease using genome-wide information and electronic health records
Polimanti R, Wendt FR, Pathak GA, Tylee DS, Tcheandjieu C, Hilliard AT, Levey DF, Adhikari K, Gaziano JM, O’Donnell C, Assimes TL, Stein MB, Gelernter J. Understanding the comorbidity between posttraumatic stress severity and coronary artery disease using genome-wide information and electronic health records. Molecular Psychiatry 2022, 27: 3961-3969. PMID: 35986173, PMCID: PMC10986859, DOI: 10.1038/s41380-022-01735-z.Peer-Reviewed Original ResearchConceptsCoronary artery diseasePosttraumatic stress disorderElectronic health recordsMillion Veteran ProgramArtery diseaseTotal scoreCAD diagnosisPlatelet amyloid precursor proteinHealth recordsPosttraumatic stress severityAmyloid precursor proteinEarly CAD diagnosisUK BiobankBidirectional relationshipTwo-sample Mendelian randomization (MR) analysisMendelian randomization analysisCAD riskHigh morbidityPTSD symptom severityCARDIoGRAMplusC4D consortiumPleiotropic mechanismsSymptom severityLongitudinal changesDiscordant effectsStress disorderAssociation of Kidney Comorbidities and Acute Kidney Failure With Unfavorable Outcomes After COVID-19 in Individuals With the Sickle Cell Trait
Verma A, Huffman JE, Gao L, Minnier J, Wu WC, Cho K, Ho YL, Gorman BR, Pyarajan S, Rajeevan N, Garcon H, Joseph J, McGeary JE, Suzuki A, Reaven PD, Wan ES, Lynch JA, Petersen JM, Meigs JB, Freiberg MS, Gatsby E, Lynch KE, Zekavat SM, Natarajan P, Dalal S, Jhala DN, Arjomandi M, Bonomo RA, Thompson TK, Pathak GA, Zhou JJ, Donskey CJ, Madduri RK, Wells QS, Gelernter J, Huang RDL, Polimanti R, Chang KM, Liao KP, Tsao PS, Sun YV, Wilson PWF, O’Donnell C, Hung AM, Gaziano JM, Hauger RL, Iyengar SK, Luoh SW, Muralidhar S, Beckham J, Moser J, Thomann L, Garcon H, Kosik N, Damrauer S, Assimes T, Roussos P, Striker R, Tuteja S, DuVall S, Lynch K, Gatsby E, Ramoni R, Breeling J, Huang G, Whitbourne S, Brewer J, Aslan M, Connor T, Argyres D, Stephens B, Brophy M, Humphries D, Selva L, Do N, Shayan S, Churby L, Hauser E, Zhao H, Wilson P, McArdle R, Dellitalia L, Mattocks K, Harley J, Whittle J, Jacono F, Wells J, Gutierrez S, Gibson G, Hammer K, Kaminsky L, Villareal G, Kinlay S, Xu J, Hamner M, Mathew R, Bhushan S, Iruvanti P, Godschalk M, Ballas Z, Ivins D, Mastorides S, Moorman J, Gappy S, Klein J, Ratcliffe N, Florez H, Okusaga O, Murdoch M, Sriram P, Yeh S, Tandon N, Jhala D, Aguayo S, Cohen D, Sharma S, Liangpunsakul S, Oursler K, Whooley M, Ahuja S, Constans J, Meyer P, Greco J, Rauchman M, Servatius R, Gaddy M, Wallbom A, Morgan T, Stapley T, Sherman S, Ross G, Tsao P, Strollo P, Boyko E, Meyer L, Gupta S, Huq M, Fayad J, Hung A, Lichy J, Hurley R, Robey B. Association of Kidney Comorbidities and Acute Kidney Failure With Unfavorable Outcomes After COVID-19 in Individuals With the Sickle Cell Trait. JAMA Internal Medicine 2022, 182: 796-804. PMID: 35759254, PMCID: PMC9237798, DOI: 10.1001/jamainternmed.2022.2141.Peer-Reviewed Original ResearchConceptsAcute kidney failureSickle cell traitAssociation of SCTCOVID-19 outcomesCOVID-19 mortalityKidney diseaseKidney failureCell traitMillion Veteran ProgramCOVID-19Chronic kidney diseaseDiabetic kidney diseaseHypertensive kidney diseaseElectronic health recordsIndex dateAfrican ancestryPulmonary embolismClinical outcomesCerebrovascular diseaseMean ageUnfavorable outcomeClinical dataDiseases codesKidney morbidityMAIN OUTCOME
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