Genetic analysis of LRRK2 in Parkinson's disease in Han Chinese population.
2018
Abstract Mutations in
Leucine-rich repeatkinase 2 (
LRRK2) are recognized as the most frequent genetic factors contributing to Parkinson's disease (PD). The aim of our study was to explore
LRRK2variants in PD patients within the mainland Han Chinese population. The whole
coding regionsof
LRRK2from 296 PD patients were sequenced by targeted regions sequencing and
exome sequencing. Eighteen rare variants were identified in 27 PD patients, and 13 of them (M100T, L153W, A459S, S722N, R792K, C925Y, R981K, S1007T, V1447M, R1677S, N2308D, N2313S, and S2350I) were firstly reported in PD. We also tried to explore the genotype-phenotype associations of
LRRK2variants in our data and found that PD with common and rare
LRRK2variants was more likely to have motor fluctuation and nonmotor symptoms. The identification of novel variants in
LRRK2suggests that this gene plays an important role in the pathogenesis and phenotype of PD in Han Chinese population, and our data also rang the alarm bell-more attention should be paid to the whole
coding regionsof
LRRK2.
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