Parkinsonism and Related Disorders

Background: Over the last decades, increasing knowledge about the genetic architecture of Parkinson’s disease(PD) has provided novel insights into the pathogenesis of the disorder. Recently, several studies in different populations have found a strong association between idiopathic PD and the single-nucleotide polymorphism (SNP) rs356219, which is located in the 30UTR of the SNCA gene. In this study, we aimed to verify these findings and to explore further the nature of the association in a subset of Chinese Han PD patients. Methods: Four hundred and three unrelated patients with sporadic PD and 315 healthy ethnically matched control subjects were recruited consecutively for the study. Patients and normal controls were genotyped for SNCA rs356219 variant by ligase detection reaction (LDR). Results: A statistically significant difference was found in the frequencies of the single alleles of rs356219 (c2 1⁄4 12.986,P 1⁄4 0.002) between PD patients and normal subjects. The distribution of A > G genotypes was different between patients and controls (c2 1⁄4 13.243, P < 0.001). The OR for subjects with the variant genotypes (AG and GG) was 1.88 (95%CI 1⁄4 1.27e2.78, P 1⁄4 0.001). The frequencies of the homozygous genotype for this variant was 42.2% (170 patients), which was significantly higher than that in controls (32.4%, P < 0.001). Conclusion: The results suggested that SNCA rs356219 variant might have an increased risk of susceptibility to PD in a Chinese Han population. Further studies are needed to replicate the association that we found. 2012 Elsevier Ltd. All rights reserved.