BACKGROUND: The purpose of this study was to explore the association between 2 single-nucleotide polymorphisms (SNPs) in the dopamine β-hydroxylase (DBH) gene (rs1611115 and rs732833) and the susceptibility to Parkinson’s disease (PD).

MATERIAL AND METHODS: Polymerase chain reaction direct sequencing (PCR-DS) was used to test the genotypes of DBH polymorphisms in 95 PD patients and 100 healthy examinees frequency-matched with the former by age and sex. The genotype and allele distribution differences between the case and control groups were analyzed by chi-square test, and the relative risk of PD in southern Chinese populations was expressed by odds ratio (OR) and 95% confidence interval (CI). Hardy-Weinberg equilibrium (HWE) was also checked by chi-square test.

RESULTS: The genotype and allele distribution frequencies in rs1611115 were obviously different between PD patients and the healthy control group (P<0.05). The TT genotype may lead to a 2.95 times higher risk of PD occurrence compared with the common genotype CC (OR=2.95, 95%CI=1.02–8.51), and the C allele increased risk of onset of PD (OR=1.81, 95%CI=1.17–2.82). Cognition of the PD patients was different between CC and CT+TT genotypes of rs1611115 (P=0.047).

CONCLUSIONS: DBH rs1611115 polymorphism was likely to be associated with the susceptibility to PD, but we did not find that rs732833 is a susceptibility marker for PD.

Keywords: Alleles, Asian Continental Ancestry Group - genetics, Case-Control Studies, Dopamine beta-Hydroxylase - metabolism, Gene Frequency, Genetic Predisposition to Disease, Parkinson Disease - genetics, Polymorphism, Single Nucleotide