Numerous single-nucleotide polymorphisms (SNPs) such as GAK rs1564282 and DGKQ rs11248060 have been reported to be associated with the risk of Parkinson's disease (PD) in Caucasian populations. However, this association is yet to be proven in the Chinese population. This study included 376 unrelated Han Chinese PD patients from Southwest China and 277 unrelated Chinese healthy controls from the same region. Two SNPs, namely, rs1564282 and rs11248060, were genotyped using Sequenom's iPLEX assay. The allele frequencies and genotype distributions of the SNPs in the PD patients and controls were compared using Fisher's exact test. Significant differences were found in the genotype distributions and allele frequencies for DGKQ rs11248060 between PD patients and controls (p = 0.0425 and p = 0.0308, respectively). Significant differences were also observed in the allele frequencies for GAK rs1564282 between PD patients and controls. No significant differences were observed in the genotype frequencies, minor allele frequency, and minor allele carrier frequencies between early-onset PD (EOPD) and controls, between late-onset PD (LOPD) and controls, and between EOPD and LOPD after conservative Bonferroni adjustment. GAK rs1564282 and DGKQ rs11248060 increase the risk for PD in Chinese patients. More related studies with a larger number of participants are needed to confirm these findings.
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