Genetic analysis of LRRK2 variants in Han Chinese patients with Parkinson's disease.

ABSTRACT: Parkinson's disease (PD) is the second most common neurodegenerative disorder, with variants in the leucine rich repeat kinase 2 gene (LRRK2) being frequent genetic causes of inherited PD. This study aimed to screen for LRRK2 variants and assess their effects on PD susceptibility in the Han Chinese population. LRRK2 variants were identified through whole exome sequencing and confirmed by Sanger sequencing in 468 unrelated PD patients and 566 controls. The identified variants were analyzed via bioinformatics predictions and statistical analyses, by interpreting existing literature and database evidence. Twelve variants were detected, including p.A419V, p.P755L, p.I786F, p.C925Y, p.M968K, p.R1067Q, p.R1320S, p.I1339M, p.P1446L, p.D1756Y, p.H2206Y, and p.G2385R. Among participants, 14.74% of

SUBMITTER: Deng X 

PROVIDER: S-EPMC12782381 | biostudies-literature | 2026

REPOSITORIES: biostudies-literature