title: DMT1 polymorphism and risk of Parkinson's disease.
abstract: 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 1254T 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% CI=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.
authors.affiliation: Department of Physiology, Shandong Provincial Key Laboratory of Pathogenesis and Prevention of Neurological Disorders and State Key Disciplines: Physiology, Medical College of Qingdao University, Qingdao 266071, China.
authors.forename: Qing
authors.initials: Q
authors.lastname: He
authors.forename: Tingting
authors.initials: T
authors.lastname: Du
authors.forename: Xiaojun
authors.initials: X
authors.lastname: Yu
authors.forename: Anmu
authors.initials: A
authors.lastname: Xie
authors.forename: Ning
authors.initials: N
authors.lastname: Song
authors.forename: Qi
authors.initials: Q
authors.lastname: Kang
authors.forename: Jintai
authors.initials: J
authors.lastname: Yu
authors.forename: Lan
authors.initials: L
authors.lastname: Tan
authors.forename: Junxia
authors.initials: J
authors.lastname: Xie
authors.forename: Hong
authors.initials: H
authors.lastname: Jiang
mesh_terms: D000368:Aged; D044466:Asian People / Q000208:ethnology; D016022:Case-Control Studies; D027682:Cation Transport Proteins / Q000235:genetics*; D002681:China / Q000453:epidemiology; D005260:Female; D020022:Genetic Predisposition to Disease / Q000208:ethnology / Q000235:genetics; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D010300:Parkinson Disease / Q000453:epidemiology / Q000208:ethnology* / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D012307:Risk Factors; D000099236:Solute Carrier Family 11, Member 2
chemical_list: D027682:Cation Transport Proteins; D000099236:Solute Carrier Family 11, Member 2