title: Genetic variations of Omi/HTRA2 in Chinese patients with Parkinson's disease.
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.
authors.affiliation: Department of Neurology, the Second Xiangya Hospital, Central South University, Changsha, Hunan 4100011, People's Republic of China.
authors.forename: Chun-Yu
authors.initials: CY
authors.lastname: Wang
authors.forename: Qian
authors.initials: Q
authors.lastname: Xu
authors.forename: Ling
authors.initials: L
authors.lastname: Weng
authors.forename: Qiang
authors.initials: Q
authors.lastname: Zhang
authors.forename: Hai-Nan
authors.initials: HN
authors.lastname: Zhang
authors.forename: Ji-Feng
authors.initials: JF
authors.lastname: Guo
authors.forename: Li-Ming
authors.initials: LM
authors.lastname: Tan
authors.forename: Jian-Guang
authors.initials: JG
authors.lastname: Tang
authors.forename: Xin-Xiang
authors.initials: XX
authors.lastname: Yan
authors.forename: Bei-Sha
authors.initials: BS
authors.lastname: Tang
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D000595:Amino Acid Sequence; D044466:Asian People / Q000235:genetics*; D005260:Female; D014644:Genetic Variation / Q000235:genetics*; D000074923:High-Temperature Requirement A Serine Peptidase 2; D006801:Humans; D008297:Male; D008875:Middle Aged; D024101:Mitochondrial Proteins / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation; D010300:Parkinson Disease / Q000175:diagnosis / Q000209:etiology / Q000235:genetics*; D010375:Pedigree; D012697:Serine Endopeptidases / Q000235:genetics*
chemical_list: D024101:Mitochondrial Proteins; D012697:Serine Endopeptidases; C000615914:HTRA2 protein, human; D000074923:High-Temperature Requirement A Serine Peptidase 2