[Association of PARK 16 polymorphisms with Parkinson's disease in Han population of Suzhou area].
[Association of PARK 16 polymorphisms with Parkinson's disease in Han population of Suzhou area].
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Department of Neurology, Second Affiliated Hospital, Soochow University, Suzhou 215004, China.Location evidence
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Original abstract
OBJECTIVE: To investigate whether there is an association of PARK 16 locus with Parkinson's disease (PD) in Han population of Suzhou area. METHODS: Polymerase chain reaction (PCR), sequencing analysis, allele-specific PCR mediated by pfu DNA polymerases and real-time PCR were employed to determine the genotype of each subject. The PARK16 representative SNP rs947211 was analyzed in 160 PD patients and 200 age-matched healthy controls. RESULTS: The results of pfu-mediated allele-specific PCR were 100% concordant with the direct-sequencing analysis. All genotypes were found in this study. A significant distinction occurred in the allelic frequency of rs947211. There was a higher expression of G allele in PD patients versus the controls (60.63% vs 51.00%; χ(2) = 6.662, P = 0.010, OR = 0.676, 95%CI 0.502 - 0.911). There were remarkable differences between G/G genotype and A/G + A/A genotype of two groups (χ(2) = 8.401, P = 0.004, OR = 1.951, 95%CI 1.238 - 3.076). In addition, a significant distinction also existed in different genotypes through H&Y stage (P < 0.05). For example, the stage of G/G was higher than A/A genotype (P = 0.025, 95%CI 0.059 - 0.851) or A/G genotype (P = 0.020, 95%CI 0.058 - 0.654). CONCLUSION: We have established a simple and reliable rs947211 genotyping method mediated by pfu DNA polymerases. The results confirmed the existence of PARK16 in Han population of Suzhou area, rs947211 G/G genotype maybe a risk factor for PD and G/G genotype carriers perhaps obtain higher illness severity.