Genetic variations of Omi/HTRA2 in Chinese patients with Parkinson's disease

Brain Res. 2011 Apr 18;1385:293-7. doi: 10.1016/j.brainres.2011.02.037. Epub 2011 Feb 19.


Parkinson's disease (PD) is the second most common neurodegenerative disorder, with approximately 5-10% of PD cases being linked to genetic factors. The Htra serine peptidase 2 (HTRA2) gene, also known as Omi, was found to be associated with PD in a cohort of German PD patients. However, subsequent studies have indicated that some variants of Omi/HTRA2 may not be related to PD. In order to investigate whether the Omi/HTRA2 gene is related to PD in Han Chinese PD patients, molecular analysis for the Omi/HTRA2 gene was performed in 404 Chinese PD patients and 504 normal individuals. Our present study revealed 2 novel variations. The IVS5+29T>A variant may be a risk factor for PD (P<0.05), while the c.G77A variant might be a pathogenic mutation. However, the findings need to be validated in a larger population using further functional studies.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Aged, 80 and over
  • Amino Acid Sequence
  • Asian Continental Ancestry Group / genetics*
  • Female
  • Genetic Variation / genetics*
  • High-Temperature Requirement A Serine Peptidase 2
  • Humans
  • Male
  • Middle Aged
  • Mitochondrial Proteins / genetics*
  • Molecular Sequence Data
  • Mutation
  • Parkinson Disease / diagnosis
  • Parkinson Disease / etiology
  • Parkinson Disease / genetics*
  • Pedigree
  • Serine Endopeptidases / genetics*


  • Mitochondrial Proteins
  • Serine Endopeptidases
  • HTRA2 protein, human
  • High-Temperature Requirement A Serine Peptidase 2