2025
The effect of polygenic risk score on PD risk and phenotype in LRRK2 G2019S and GBA1 carriers
Goldstein O, Shani S, Gana-Weisz M, Elkoshi N, Casey F, Sun Y, Chandratre K, Cedarbaum J, Blauwendraat C, Bar-Shira A, Thaler A, Gurevich T, Mirelman A, Giladi N, Orr-Urtreger A, Alcalay R. The effect of polygenic risk score on PD risk and phenotype in LRRK2 G2019S and GBA1 carriers. Journal Of Parkinson's Disease 2025 DOI: 10.1177/1877718x241310722.Peer-Reviewed Original ResearchPolygenic risk scoresPolygenic risk score modelPolygenic risk score associationsLRRK2 G2019S carriersGenetic risk factorsPD riskNon-carriersGenetic groupsDisease riskRisk scoreLRRK2 G2019SRisk factorsEffect of polygenic risk scoresGenetically complex conditionsCalculate polygenic risk scoresG2019S carriersElevated PRSAssessed PD riskAssociated with increased PD riskAshkenazi Jewish ancestryAssociated with PD riskModify disease riskGenotype callsGBA1 variantsLRRK2-G2019S-PD
2019
Revisiting the non-Gaucher-GBA-E326K carrier state: Is it sufficient to increase Parkinson's disease risk?
Goldstein O, Gana-Weisz M, Cohen-Avinoam D, Shiner T, Thaler A, Cedarbaum JM, John S, Lalioti M, Gurevich T, Bar-Shira A, Mirelman A, Giladi N, Orr-Urtreger A. Revisiting the non-Gaucher-GBA-E326K carrier state: Is it sufficient to increase Parkinson's disease risk? Molecular Genetics And Metabolism 2019, 128: 470-475. PMID: 31662221, DOI: 10.1016/j.ymgme.2019.10.001.Peer-Reviewed Original ResearchConceptsPD patientsE326KGBA variantsLRRK2 G2019SDisease riskDisease worldElderly healthy individualsAdditive effectParkinson's disease riskK variantAshkenazi PD patientsCommon genetic risk factorGenetic risk factorsRisk factorsCarrier patientsGBA mutationsPD riskHealthy individualsPatientsCarrier stateGaucher diseaseEarlier AAOAshkenazi originAshkenazi controlsStatistical significance