| Literature DB >> 21338583 |
Chun-Yu Wang1, Qian Xu, Ling Weng, Qiang Zhang, Hai-Nan Zhang, Ji-Feng Guo, Li-Ming Tan, Jian-Guang Tang, Xin-Xiang Yan, Bei-Sha Tang.
Abstract
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.Entities:
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Year: 2011 PMID： 21338583 DOI： 10.1016/j.brainres.2011.02.037
Source DB: PubMed Journal: Brain Res ISSN： 0006-8993 Impact factor: 3.252