Association study of GATA-2 transcription factor gene (GATA2) polymorphism and Parkinson's disease☆

Abstract 

It was shown that high levels of α-synuclein in substantia nigra are essential in pathogenesis of Parkinson disease (PD), and SNCA expression in neurons is controlled by GATA-2 transcription factor, which plays also crucial role in central nervous system development, and erythroid cells differentiation. Recently, significant association of two GATA2 SNPs with early-onset coronary artery disease has been presented. In this case–control study we tested a hypothesis that polymorphism of GATA2 gene may be associated with sporadic PD. Five tag SNPs within GATA2 gene (rs2860228:G > A, rs2335052:G > A, rs11717152:A > C, rs2713604:G > A, and rs3803:C > T) were investigated in 368 PD patients and 349 controls of Caucasian origin from Poland. We did not find any significant differences in the GATA2 allele and genotype frequencies between PD cases and controls, for individual SNPs, neither in haplotype analysis. Elevated frequency of rs3803T allele was observed in early-onset PD patients (vs. controls and vs. late-onset PD), but this difference was not significant (0.05 < p < 0.1). We conclude that GATA2 polymorphism is not an important risk factor for sporadic PD in Caucasians.

Keywords: Parkinsonism, Genetic polymorphism, Transcription factor