Genetic analysis of SNCA gene polymorphisms in Parkinson's disease in an Iranian population

•Four SNPs in SNCA gene were genotyped in PD and control groups.•Significant association was observed for rs230113, rs2301135 and rs11931074.•SNCA variations may be a risk factor for PD in Iranian population.•We replicated the important effect of SNCA polymorphisms in the etiology of PD.

ObjectivesParkinson's disease (PD) is a complex disorder influenced by genetic and environmental factors. One of the several genes indicated to be important in the etiology of PD is SNCA. Here we aimed to investigate the association of rs2301134, rs2301135, rs356221 and rs11931074 polymorphisms located in SNCA with PD.Material and methodsA case-control study was designed using 500 sporadic PD patients and 500 healthy controls. DNA was extracted from peripheral blood of all subjects, and SNCA variations were genotyped using the PCR-RFLP method.ResultsSignificant associations were found for the two promoter polymorphisms of the SNCA gene, rs2301134 and rs2301135 (p-value = 0.009, OR = 0.79 95%CI: 0.66-0.94 and p-value = 0.001, OR = 1.33 95%CI: 1.12-1.59 respectively for differences in allele frequencies). Genotype frequencies were also significantly different in case and control groups for rs11931074 polymorphism located in 3′UTR region of the gene (p-value = 0.036).DiscussionOur study indicates the possible effect of SNCA variations in the etiology of PD in the Iranian population.