Association of PARK 16 polymorphisms with Parkinson's disease in Han population of Suzhou area

Abstract

To investigate whether there is an association of PARK 16 locus with Parkinson's disease (PD) in Han population of Suzhou area. 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. 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). 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.