biostudies-literatureWilliam MBMichael J. Fox Foundation for Parkinson's Research (Michael J. Fox Foundation)American University in CairoAmerican University in Cairo (AUC)Michael J. Fox Foundation for Parkinson's Research215https://www.ebi.ac.uk/biostudies/studies/S-EPMC11541850biostudies-literatureUnknown10(1)The impact of LRRK2 variants on the risk of Parkinson's disease in Egyptians remains unknown. We examined 1210 Egyptians (611 PD patients and 599 controls) from 16 governorates across Egypt for 12 LRRK2 pathogenic variants. The p.Gly2019Ser was the only variant detected, with a prevalence of 4.1% in sporadic cases, 6.5% in familial cases, and 0.68% in controls. Among p.Gly2019Ser carriers, all were heterozygous bar one homozygous patient, and all shared the common haplotype 1. Demographics and UPDRS scores did not differ between carriers and non-carriers, with most patients being males and developed PD in their fifties. Young and Early-onset PD prevalence was 37.5% in carriers and 33% in non-carriers. Familial cases were 16.6% in carriers and 11.5% in non-carriers. This study affirms that NPJ Parkinson's diseaseThe p.Gly2019Ser is a common LRRK2 pathogenic variant among Egyptians with familial and sporadic Parkinson's disease.PMC11541850ID:174832021Helmy AHamid ENabhan SYousef MHEl-Gamal MShalash ALee HElgamal SShebl NRagab SFawi GKoraym MRizig MJama AElsayed NABRagab GHoulden HHussein MAMekky JMahmoud DMWilliam MBEl-Jaafary SHamed SGabr ASEssam MBelal TMElfarrash SSalama MAbdelwahhab NAly LKhedr EMHegazy MTElsaid YfalseThe p.Gly2019Ser is a common LRRK2 pathogenic variant among Egyptians with familial and sporadic Parkinson's disease.The impact of LRRK2 variants on the risk of Parkinson's disease in Egyptians remains unknown. We examined 1210 Egyptians (611 PD patients and 599 controls) from 16 governorates across Egypt for 12 LRRK2 pathogenic variants. The p.Gly2019Ser was the only variant detected, with a prevalence of 4.1% in sporadic cases, 6.5% in familial cases, and 0.68% in controls. Among p.Gly2019Ser carriers, all were heterozygous bar one homozygous patient, and all shared the common haplotype 1. Demographics and UPDRS scores did not differ between carriers and non-carriers, with most patients being males and developed PD in their fifties. Young and Early-onset PD prevalence was 37.5% in carriers and 33% in non-carriers. Familial cases were 16.6% in carriers and 11.5% in non-carriers. This study affirms that 2024-01-01T00:00:00Z2024 Nov2026-06-01T15:13:01.649Z2025-04-06T10:12:23.052ZS-EPMC115418503950592110.1038/s41531-024-00826-8