Genetic analysis of the S100B gene in Chinese patients with Parkinson disease
Copyright © 2013 Elsevier Ireland Ltd. All rights reserved..
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.
| Medienart: |
E-Artikel |
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| Erscheinungsjahr: |
2013 |
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| Erschienen: |
2013 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:555 |
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| Enthalten in: |
Neuroscience letters - 555(2013) vom: 25. Okt., Seite 134-6 |
| Sprache: |
Englisch |
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| Beteiligte Personen: |
Guo, Yi [VerfasserIn] |
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| Links: |
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| Themen: |
Journal Article |
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| Anmerkungen: |
Date Completed 31.01.2014 Date Revised 07.12.2022 published: Print-Electronic Citation Status MEDLINE |
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| doi: |
10.1016/j.neulet.2013.09.037 |
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| funding: |
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| Förderinstitution / Projekttitel: |
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| PPN (Katalog-ID): |
NLM231247761 |
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| 245 | 1 | 0 | |a Genetic analysis of the S100B gene in Chinese patients with Parkinson disease |
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| 500 | |a Date Revised 07.12.2022 | ||
| 500 | |a published: Print-Electronic | ||
| 500 | |a Citation Status MEDLINE | ||
| 520 | |a Copyright © 2013 Elsevier Ireland Ltd. All rights reserved. | ||
| 520 | |a 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 | ||
| 650 | 4 | |a Journal Article | |
| 650 | 4 | |a Research Support, Non-U.S. Gov't | |
| 650 | 4 | |a Mutation | |
| 650 | 4 | |a Parkinson disease | |
| 650 | 4 | |a S100 calcium-binding beta | |
| 650 | 4 | |a The coding region | |
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| 650 | 7 | |a S100B protein, human |2 NLM | |
| 700 | 1 | |a Yang, Huarong |e verfasserin |4 aut | |
| 700 | 1 | |a Deng, Xiong |e verfasserin |4 aut | |
| 700 | 1 | |a Song, Zhi |e verfasserin |4 aut | |
| 700 | 1 | |a Yang, Zhijian |e verfasserin |4 aut | |
| 700 | 1 | |a Xiong, Wei |e verfasserin |4 aut | |
| 700 | 1 | |a Yuan, Lamei |e verfasserin |4 aut | |
| 700 | 1 | |a Xu, Hongbo |e verfasserin |4 aut | |
| 700 | 1 | |a Deng, Sheng |e verfasserin |4 aut | |
| 700 | 1 | |a Deng, Hao |e verfasserin |4 aut | |
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