title: The homozygote 10-copy genotype of variable number tandem repeat dopamine transporter gene may confer protection against Parkinson's disease for male, but not to female patients.
abstract: We investigated the role of variable number tandem repeat (VNTR) polymorphism of the dopamine transporter gene (DAT) in the pathogenesis of Parkinson's disease (PD) in Taiwanese. A case-control study was carried out to examine the association of the VNTR polymorphism within the DAT between 193 sporadic PD patients and 254 controls, matched by age and sex. Six alleles of VNTR polymorphism in the DAT, consisting of 6, 7, 8, 9, 10 and 11 copies of the 40-base-pair (bp) repeat sequence, were detected in the study. There were no differences of allele frequency (chi(2)=5.239, p=0.387) and genotype polymorphism of the DAT VNTR (chi(2)=11.873, p=0.157) in PD patients from the controls. Further analysis stratified by sex and age at onset did not show associations. However, PD patients carrying homozygote 10-copy genotype of the DAT VNTR polymorphism were 0.67 times fewer than controls (chi(2)=4.569, odds radio (OR)=0.67, 95% confidence interval (CI)=0.45-0.97, p=0.033). The reduced risk of the homozygosity with PD genotype was only in male PD patients (chi(2)=2.923, OR=0.48, 95% CI=0.25-0.93, p=0.026), but not in female PD patients (chi(2)=0.002, OR=1.02, 95% CI=0.49-2.11, p=0.966). In conclusion, the results of our study show that homozygote 10-copy genotype of the VNTR polymorphism within the DAT may confer a protective factor for male PD patients, but not for female PD patients.
authors.affiliation: Department of Neurology, Chushang Show-Chwan Hospital, Nantou, Taiwan, ROC. jjlinn@tcts.seed.net.tw
authors.forename: Juei-Jueng
authors.initials: JJ
authors.lastname: Lin
authors.forename: Kuo-Chu
authors.initials: KC
authors.lastname: Yueh
authors.forename: Dar-Cheng
authors.initials: DC
authors.lastname: Chang
authors.forename: Chung-Yao
authors.initials: CY
authors.lastname: Chang
authors.forename: Yung-Hsiang
authors.initials: YH
authors.lastname: Yeh
authors.forename: Shinn-Zong
authors.initials: SZ
authors.lastname: Lin
mesh_terms: D024509:3' Flanking Region; D017668:Age of Onset; D000368:Aged; D000483:Alleles; D016022:Case-Control Studies; D050483:Dopamine Plasma Membrane Transport Proteins; D005260:Female; D018628:Gene Dosage; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006720:Homozygote; D006801:Humans; D008297:Male; D008562:Membrane Glycoproteins; D026901:Membrane Transport Proteins / Q000235:genetics*; D008875:Middle Aged; D018598:Minisatellite Repeats / Q000235:genetics; D009419:Nerve Tissue Proteins; D016017:Odds Ratio; D010300:Parkinson Disease / Q000453:epidemiology / Q000235:genetics*; D011110:Polymorphism, Genetic; D018570:Risk Assessment; D012737:Sex Factors; D013624:Taiwan / Q000453:epidemiology; D020080:Tandem Repeat Sequences / Q000235:genetics*
chemical_list: D050483:Dopamine Plasma Membrane Transport Proteins; D008562:Membrane Glycoproteins; D026901:Membrane Transport Proteins; D009419:Nerve Tissue Proteins; C493214:SLC6A3 protein, human