2022
Polygenic scores for empathy associate with posttraumatic stress severity in response to certain traumatic events
Wendt FR, Warrier V, Pathak GA, Koenen KC, Stein MB, Krystal JH, Pietrzak RH, Gelernter J, Goldfarb EV, Baron-Cohen S, Polimanti R. Polygenic scores for empathy associate with posttraumatic stress severity in response to certain traumatic events. Neurobiology Of Stress 2022, 17: 100439. PMID: 35242894, PMCID: PMC8881478, DOI: 10.1016/j.ynstr.2022.100439.Peer-Reviewed Original ResearchPosttraumatic stress disorderTraumatic eventsPolygenic scoringGreater emotional sensitivityChildhood neglect/abusePTSD symptom severityCertain traumatic eventsSevere PTSD symptomsPosttraumatic stress severityContext of traumaNeglect/abuseEarly life adversityHigher empathyPTSD symptomsEmotional sensitivityHigh empathizersStress disorderLife eventsEmpathyPotential traumaSymptom severityPolygenic scoresAutismStress severityDepressionUsing phenotype risk scores to enhance gene discovery for generalized anxiety disorder and posttraumatic stress disorder
Wendt FR, Pathak GA, Deak JD, De Angelis F, Koller D, Cabrera-Mendoza B, Lebovitch DS, Levey DF, Stein MB, Kranzler HR, Koenen KC, Gelernter J, Huckins LM, Polimanti R. Using phenotype risk scores to enhance gene discovery for generalized anxiety disorder and posttraumatic stress disorder. Molecular Psychiatry 2022, 27: 2206-2215. PMID: 35181757, PMCID: PMC9133008, DOI: 10.1038/s41380-022-01469-y.Peer-Reviewed Original Research
2017
Population diversity of the genetically determined TTR expression in human tissues and its implications in TTR amyloidosis
Iorio A, De Angelis F, Di Girolamo M, Luigetti M, Pradotto LG, Mazzeo A, Frusconi S, My F, Manfellotto D, Fuciarelli M, Polimanti R. Population diversity of the genetically determined TTR expression in human tissues and its implications in TTR amyloidosis. BMC Genomics 2017, 18: 254. PMID: 28335735, PMCID: PMC5364715, DOI: 10.1186/s12864-017-3646-1.Peer-Reviewed Original ResearchConceptsGenotype-phenotype correlationHuman populationComplex genotype-phenotype correlationsFamilial amyloidotic cardiomyopathyTTR expressionTTR amyloidosisGTEx projectGenome ProjectSkeletal muscle tissueAncestral groupsAncestry diversityRelevant tissuesScandinavian populationsAmyloidotic cardiomyopathyPopulation diversityAncestry groupsExpressionHuman tissuesDiversityMuscle tissueHereditary diseasePolygenic scoresTissueClinical variabilityLesser extent