ASSOCIATION OF PARKINSON'S DISEASE WITH FIVE SINGLE NUCLEOTIDE POLYMORPHISMS LOCATED IN LRRK2 IN THE NORTHERN HAN CHINESE POPULATION

Aims: The correlation between the polymorphism of the genes LRRK2 (Leucine-rich repeat kinase 2) G2385R, R1628P, R1441C/G, R1441H, and G2019S and sporadic Parkinson's disease (PD) in the northern Han Chinese population was explored.Methods: Clinical data and genomic DNA was collected from 434 sporadic PD patients and 384 controls. Case control studies were conducted. The polymorphism of LRRK2 G2385R, R1628P, R14410C/G/H, and G2019S in patients and controls was assessed using the Snapshot technique. Results: 1. No LRRK2 G2019S, R1441C/G, or R1441H mutations were found in either PD patients or controls. 2. Three LRRK2 R1628P mutations were found in PD patients (138%), while one was found in the control group (0.52%). The difference between these two measurements was not found to be significant. 3. For LRRK2 G2385R, 66 cases were found in PD patients (15.21%), including 64 cases of GA mutation (14.75%) and two cases of AA mutation (0.46%), while 12 cases of GA mutation (3.13%) were found in the control group. These two measurements were significantly different. LRRK2 G2385R was correlated with PD in the northern Han Chinese population. Univariate logistic regression analysis showed that the risk of PD in mutation carriers was 5 times higher than in non-carriers (OR=5.361, 95% CI: 2.19-13 2.4). When stratified by sex, the risk in G2385R carriers showed no significant difference. Clinical phenotypes of PD patients carrying LRRK2 G2385R showed no statistical difference with sporadic PD patients. Conclusions: 1. LRRK2 R1628P, R1441C/G, R1441H, and G2019S probably had no correlation with PD in the northern Han Chinese population. 2. LRRK2 G2385R was correlated with PD in the northern Han Chinese population.