The genetic spectrum of LRRK2 variants in Parkinson's disease: findings from a large Chinese cohort - PubMed
3 hours ago
- #Parkinson's disease
- #LRRK2 gene
- #genetic variants
- The study analyzed LRRK2 gene variants in 20,519 Chinese individuals, including Parkinson's disease patients, essential tremor patients, and healthy controls.
- Six reported pathogenic and three likely pathogenic LRRK2 variants were enriched in PD cases, with a frequency of 0.71%, compared to lower frequencies in controls and essential tremor cohorts.
- Novel likely pathogenic variants (p.A312V, p.M968K, p.R1320S) were identified and found more frequently in PD patients than in controls or essential tremor patients.
- Association analysis confirmed significant links between common missense variants (p.A419V, p.R1628P, p.G2385R) and PD, but no common variants were associated with essential tremor.
- The findings highlight the key role of LRRK2 in PD pathogenesis in the Chinese population and support the development of personalized therapies based on genetic profiling.