Genetic analysis of the ATP1B4 gene in Chinese Han patients with Parkinson's disease.

Parkinson's disease (PD) is the second most common neurodegenerative disease characterized clinically by bradykinesia, resting tremor, rigidity and postural instability. Mutations in the ATPase 13A2 gene were found to be the causes for the Kufor-Rakeb syndrome, a rare form of recessively inherited atypical juvenile parkinsonism. The ATPase Na(+)/K(+) transporting beta 4 polypeptide gene (ATP1B4) is located within a 19-centimorgen region of the PARK12 near the marker DXS1001 and it encodes a protein named βm, a member of P-type ATPases β-subunit family. To determine whether mutations in the ATP1B4 gene are associated with PD, we screened the coding region of this gene in 100 Chinese Han patients with PD. A known single nucleotide variant rs2072452 (c.143T > C), predicted to lead to amino acid substitution (p.Val48Ala), was identified. Extended analysis of 202 patients with PD and 400 gender, age, and ethnicity matched healthy controls showed no significant differences between patients and control subjects for genotypic and allelic distributions (P = 0.638 for genotypic distribution; P = 0.685 for allelic distribution in females and P = 0.303 for allelic distribution in males), suggesting the variant in the coding region of the ATP1B4 gene may play little or no role in the development of PD in Chinese Han population.