摘要
Abstract
Objective To investigate the association between G2385R polymorphisms of LRRK2 gene and Parkinson's disease (PD). Methods The clinical data and peripheral blood samples were col ected from 197 PD patients and 202 healthy subjects. Polymerase Chain Reaction combined with restriction fragment length polymorphism(PCR-RFLP) was used to detected the G2385R genotypes of PD patients, the G2385R genotype was verified by the sequencing. The sex, age, clinical symptoms, UPDRS score and Hoehn-Yahr grade were compared among PD patients with different genotypes. The frequencies of genotype distribution of PD patients and healthy subjects were compared. The population attributable risk percent(PAR%)of G2385R varia-tions was counted and the synergy with gender and age interaction was analyzed. Results The genotype GA of G2385R was detected in 19 cases of PD(9.64%), while that was detected in 5 controls(2.48%)(χ²=9.07, P<0.01, OR=5.04, 95%CI:2.16~11.78) and the PAR%of 7.82%was gained. No PD patient with AA genotype was found. The genotype GA was detected in 15 cases of late-onset PD(9.80%), in the age-matched controls, there were only 4 subjects of GA genotype(2.23%)(P<0.01, OR=4.35, 95%CI:1.76~12.93). There were no significant differences in clinical phenotypes (sex, age, clinical symptoms, UPDRS score and Hoehn-Yahr grade)between patients carrying G2385R and those not carrying. Conclusion The G2385R variant in LRRK2 gene may be a risk factor of the late-onset Parkinson's disease in Han Chinese patients.关键词
帕金森病/G2385R基因型/单核苷酸Key words
Parkinson’s disease/G2385R genetype/Single nucleotide
