2021
Effects of genetic risk for alcohol dependence and onset of regular drinking on the progression to alcohol dependence: A polygenic risk score approach
Yeung EW, Spychala KM, Miller AP, Otto JM, Deak JD, Kim H, Gilder DA, Ehlers CL, Wilhelmsen KC, Gizer IR. Effects of genetic risk for alcohol dependence and onset of regular drinking on the progression to alcohol dependence: A polygenic risk score approach. Drug And Alcohol Dependence 2021, 230: 109117. PMID: 34844060, PMCID: PMC8714681, DOI: 10.1016/j.drugalcdep.2021.109117.Peer-Reviewed Original ResearchConceptsRate of progressionRegular drinkingAlcohol dependenceCox proportional hazards regression analysisProportional hazards regression analysisEarly onsetGenetic riskHazards regression analysisHazard of progressionMixed-effects logistic regressionEuropean-ancestry adultsHigh clinical relevanceAD risk variantsEffects logistic regressionAD independentPolygenic risk score approachClinical courseRapid progressionAD preventionFaster progressionPolygenic risk scoresRisk scoreClinical relevanceLate onsetAD diagnosis
2017
Opposing effects of progranulin deficiency on amyloid and tau pathologies via microglial TYROBP network
Takahashi H, Klein ZA, Bhagat SM, Kaufman AC, Kostylev MA, Ikezu T, Strittmatter SM, For the Alzheimer’s Disease Neuroimaging Initiative. Opposing effects of progranulin deficiency on amyloid and tau pathologies via microglial TYROBP network. Acta Neuropathologica 2017, 133: 785-807. PMID: 28070672, PMCID: PMC5391267, DOI: 10.1007/s00401-017-1668-z.Peer-Reviewed Original ResearchConceptsAPP/PS1 micePS1 micePGRN deficiencyAlzheimer's diseaseAD risk variantsCerebrospinal fluid Aβ levelsLoss of progranulinMicroglial Aβ phagocytosisCSF tau levelsFrontotemporal lobar degenerationRisk variantsAPPswe/Aβ phagocytosisNeuronal injuryAβ levelsAβ pathologyCerebral amyloidosisAxonal dystrophyTau pathologyTau levelsComplement depositionPGRN levelsAD pathophysiologyAmyloid imagingProgranulin deficiency
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