DMT1 polymorphism and risk of Parkinson's disease

Growing evidence suggests that iron accumulation in the substantia nigra (SN) is involved in the pathology of Parkinson's diseases (PD). Divalent metal transporter 1 (DMT1) is an endogenous transporter for ferrous iron, the levels of which are significantly increased in the SN in postmortem PD brains. To study the possible association of DMT1 gene with PD occurrence, one mutation (1303C/A) and two single nucleotide polymorphisms (SNPs) (1254T/C and IVS4 + 44C/A) in DMT1 gene were investigated in 192 PD patients in a Han Chinese population and 193 healthy controls by method of polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Direct sequencing was performed in 10% of the samples to validate the genotyping results. Our results failed to find any significant association between the tested genotypes, alleles or mutation and PD, however, a haplotype (C alleles of 12541 and IVS4 + 44C/A polymorphisms) occurred at greater frequencies in PD subjects compared with that of control (18.2% versus 11.4%, OR = 1.72, 95% Cl = 1.15-2.59, P=0.01). These results suggest that CC haplotype in DMT1 gene is a possible risk factor for PD in this Han Chinese population. (C) 2011 Elsevier Ireland Ltd. All rights reserved.