Genetic analysis of the TMEM230 gene in Chinese Han patients with Parkinson’s disease
Abstract TMEM230 mutations have been recently reported to cause autosomal dominant Parkinson’s disease (PD). However, there are limited studies from different ethnic populations to support the role of TMEM230 in sporadic PD. In this study, we performed a comprehensive TMEM230 mutation screening in 5...
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| Format: | Article |
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Nature Portfolio
2017-04-01
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| Series: | Scientific Reports |
| Online Access: | https://doi.org/10.1038/s41598-017-01398-9 |
| _version_ | 1818750806388637696 |
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| author | Chang-he Shi Fang Li Meng-meng Shi Zhi-hua Yang Cheng-yuan Mao Shu-yu Zhang Hui Wang Yuan Cheng Jing Yang Jun Wu Yu-ming Xu |
| author_facet | Chang-he Shi Fang Li Meng-meng Shi Zhi-hua Yang Cheng-yuan Mao Shu-yu Zhang Hui Wang Yuan Cheng Jing Yang Jun Wu Yu-ming Xu |
| author_sort | Chang-he Shi |
| collection | DOAJ |
| description | Abstract TMEM230 mutations have been recently reported to cause autosomal dominant Parkinson’s disease (PD). However, there are limited studies from different ethnic populations to support the role of TMEM230 in sporadic PD. In this study, we performed a comprehensive TMEM230 mutation screening in 550 sporadic PD patients and 560 controls to elaborate the genetic contribution of TMEM230 to sporadic PD. Overall, we did not find any pathogenic mutations in the coding sequence, while we identified four variants (c.68 + 182G > A, c.78A > G, c.552 + 11A > G and c.174 + 11C > T) both in the patients and controls, and c.68 + 182G > A appeared to be associated with an increased risk of PD (odds ratio 1.782, 95% confidence interval 1.035–3.067, p < 0.05). After Bonferroni correction, however, c. 68 + 182G > A had no significant association with sporadic PD (p c = 0.136, p c > 0.05). Thus our results suggest that TMEM230 gene mutations may be rare in Chinese populations, and the variability of TMEM230 gene may not be a main factor for sporadic PD patients in Chinese Han populations. More evidence is still needed to clarify this question. |
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| id | doaj.art-efb2a52448d44ce6ab83ed8a3ff7e1eb |
| institution | Directory Open Access Journal |
| issn | 2045-2322 |
| language | English |
| last_indexed | 2024-12-18T04:25:31Z |
| publishDate | 2017-04-01 |
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| spelling | doaj.art-efb2a52448d44ce6ab83ed8a3ff7e1eb2022-12-21T21:21:08ZengNature PortfolioScientific Reports2045-23222017-04-01711310.1038/s41598-017-01398-9Genetic analysis of the TMEM230 gene in Chinese Han patients with Parkinson’s diseaseChang-he Shi0Fang Li1Meng-meng Shi2Zhi-hua Yang3Cheng-yuan Mao4Shu-yu Zhang5Hui Wang6Yuan Cheng7Jing Yang8Jun Wu9Yu-ming Xu10Department of Neurology, The first affiliated Hospital of Zhengzhou University, Zhengzhou UniversityDepartment of Neurology, The first affiliated Hospital of Zhengzhou University, Zhengzhou UniversityDepartment of Neurology, The first affiliated Hospital of Zhengzhou University, Zhengzhou UniversityDepartment of Neurology, The first affiliated Hospital of Zhengzhou University, Zhengzhou UniversityDepartment of Neurology, The first affiliated Hospital of Zhengzhou University, Zhengzhou UniversityDepartment of Neurology, The first affiliated Hospital of Zhengzhou University, Zhengzhou UniversityDepartment of Neurology, The first affiliated Hospital of Zhengzhou University, Zhengzhou UniversityDepartment of Neurology, The first affiliated Hospital of Zhengzhou University, Zhengzhou UniversityDepartment of Neurology, The first affiliated Hospital of Zhengzhou University, Zhengzhou UniversityDepartment of Neurology, The first affiliated Hospital of Zhengzhou University, Zhengzhou UniversityDepartment of Neurology, The first affiliated Hospital of Zhengzhou University, Zhengzhou UniversityAbstract TMEM230 mutations have been recently reported to cause autosomal dominant Parkinson’s disease (PD). However, there are limited studies from different ethnic populations to support the role of TMEM230 in sporadic PD. In this study, we performed a comprehensive TMEM230 mutation screening in 550 sporadic PD patients and 560 controls to elaborate the genetic contribution of TMEM230 to sporadic PD. Overall, we did not find any pathogenic mutations in the coding sequence, while we identified four variants (c.68 + 182G > A, c.78A > G, c.552 + 11A > G and c.174 + 11C > T) both in the patients and controls, and c.68 + 182G > A appeared to be associated with an increased risk of PD (odds ratio 1.782, 95% confidence interval 1.035–3.067, p < 0.05). After Bonferroni correction, however, c. 68 + 182G > A had no significant association with sporadic PD (p c = 0.136, p c > 0.05). Thus our results suggest that TMEM230 gene mutations may be rare in Chinese populations, and the variability of TMEM230 gene may not be a main factor for sporadic PD patients in Chinese Han populations. More evidence is still needed to clarify this question.https://doi.org/10.1038/s41598-017-01398-9 |
| spellingShingle | Chang-he Shi Fang Li Meng-meng Shi Zhi-hua Yang Cheng-yuan Mao Shu-yu Zhang Hui Wang Yuan Cheng Jing Yang Jun Wu Yu-ming Xu Genetic analysis of the TMEM230 gene in Chinese Han patients with Parkinson’s disease Scientific Reports |
| title | Genetic analysis of the TMEM230 gene in Chinese Han patients with Parkinson’s disease |
| title_full | Genetic analysis of the TMEM230 gene in Chinese Han patients with Parkinson’s disease |
| title_fullStr | Genetic analysis of the TMEM230 gene in Chinese Han patients with Parkinson’s disease |
| title_full_unstemmed | Genetic analysis of the TMEM230 gene in Chinese Han patients with Parkinson’s disease |
| title_short | Genetic analysis of the TMEM230 gene in Chinese Han patients with Parkinson’s disease |
| title_sort | genetic analysis of the tmem230 gene in chinese han patients with parkinson s disease |
| url | https://doi.org/10.1038/s41598-017-01398-9 |
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