Genetic analysis of NFE2L2 promoter variation in Taiwanese Parkinson's disease

Oxidative stress has been reported as one of the pathogeneses of Parkinson's disease (PD). Nuclear factor erythroid 2-related factor 2 (Nrf2) is a transcription factor that regulates the expression of the target genes involved in antioxidant pathway. The promoter polymorphisms of the Nrf2-encoding gene, NFE2L2, have been shown to affect the promoter activity. Inconsistent findings of the associations between NFE2L2 promoter polymorphisms and PD have been reported in a multiple candidate gene study, a whole-genome association study, and a case-control study in multiple ethnicity groups. This study enrolled a total of 1006 individuals composed of 480 PD patients and 526 controls to evaluate if there was an association of the NFE2L2 promoter polymorphisms with PD susceptibility in the Taiwan population. Three promoter single nucleotide polymorphisms (SNPs) rs35652124, rs6706649, and rs6721961 were examined using polymerase chain reaction and restriction analysis. The associations of each of the SNPs and the haplotypes constructed by the variations with PD susceptibility were examined. In spite of adequate statistic power, we observe no association of the three SNPs and their haplotypes with PD in a Taiwanese population. One of the reasons for the association disparity may include the genomic differences in ethnicities and environmental factors in different geographical regions.