Genetic analysis of the S100B gene in Chinese patients with Parkinson disease.
There is growing evidence that genetic abnormalities play an important role in the pathogenesis of Parkinson disease (PD). At least 18 genetic loci and 13 disease-related genes for parkinsonism have been identified. The S100 calcium-binding beta (S100B), which is expressed and secreted by astrocytes, has been found to be associated with PD. To evaluate whether the S100B variants are related to PD in Chinese Han population, we conducted genetic examination of the S100B gene in 502 PD patients from Mainland China. We did identify two known variants c.279+4T>C (rs187503470) and c.99C>G (p.Leu33Leu, rs1051169) in our patients. Neither of these two variants is predicted to change amino acid or splice site, indicating that they are not pathogenic mutations. Our results suggest that mutations in the coding region or intron/exon boundaries of the S100B gene play little or no role in the development of PD in Chinese population.
Center for Experimental Medicine, The Third Xiangya Hospital, Central South University, Changsha, China; Department of Neurology, The Third Xiangya Hospital, Central South University, Changsha, China.
Yi
Y
Guo
Huarong
H
Yang
Xiong
X
Deng
Zhi
Z
Song
Zhijian
Z
Yang
Wei
W
Xiong
Lamei
L
Yuan
Hongbo
H
Xu
Sheng
S
Deng
Hao
H
Deng
D000368:Aged; D044466:Asian People; D005260:Female; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010300:Parkinson Disease / Q000208:ethnology / Q000235:genetics*; D064568:S100 Calcium Binding Protein beta Subunit / Q000235:genetics*
D064568:S100 Calcium Binding Protein beta Subunit; C579160:S100B protein, human
Mutation; Parkinson disease; S100 calcium-binding beta; The coding region