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

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.

Research Highlights
► This is the first study to investigate whether the Omi/HTRA2 gene is related to PD in mainland Chinese patients.
► Our present study revealed two novel variations.
► The IVS5 + 29T > A variant may be a risk factor for PD, while the c.G77A variant may be a pathogenic mutation.