Evaluation of novel Parkinson's disease candidate genes in the Chinese population
Recent whole-exome sequencing studies in European patients with Parkinson's disease (PD) have identified potential risk variants across 33 novel PD candidate genes. We aim to determine if these reported candidate genes are similarly implicated in Asians by assessing common, rare, and novel nons...
| Main Authors: | , , , , , , , , , , , , , |
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| Other Authors: | |
| Format: | Journal Article |
| Language: | English |
| Published: |
2020
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| Online Access: | https://hdl.handle.net/10356/141236 |
| _version_ | 1826126195658326016 |
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| author | Chew, Elaine Guo Yan Liany, Herty Tan, Louis C. S. Au, Wing-Lok Prakash, Kumar-M. Azlina Ahmad Annuar Chan, Anne Y. Y. Lim, Shen-Yang Mok, Vincent Chung, Sun Ju Song, Kyuyoung Liu, Jianjun Foo, Jia Nee Tan, Eng-King |
| author2 | Lee Kong Chian School of Medicine (LKCMedicine) |
| author_facet | Lee Kong Chian School of Medicine (LKCMedicine) Chew, Elaine Guo Yan Liany, Herty Tan, Louis C. S. Au, Wing-Lok Prakash, Kumar-M. Azlina Ahmad Annuar Chan, Anne Y. Y. Lim, Shen-Yang Mok, Vincent Chung, Sun Ju Song, Kyuyoung Liu, Jianjun Foo, Jia Nee Tan, Eng-King |
| author_sort | Chew, Elaine Guo Yan |
| collection | NTU |
| description | Recent whole-exome sequencing studies in European patients with Parkinson's disease (PD) have identified potential risk variants across 33 novel PD candidate genes. We aim to determine if these reported candidate genes are similarly implicated in Asians by assessing common, rare, and novel nonsynonymous coding variants by sequencing all 33 genes in 198 Chinese samples and genotyping coding variants in an independent set of 9756 Chinese samples. We carried out further targeted sequencing of CD36 in an additional 576 Chinese and Korean samples. We found that only 8 of 43 reported risk variants were polymorphic in our Chinese samples. We identified several heterozygotes for rare loss-of-function mutations, including the reported CD36 p.Gln74Ter variant, in both cases and controls. We also observed 2 potential compound heterozygotes among PD cases for rare loss-of-function mutations in CD36 and SSPO. The other reported variants were common in East Asians and not associated with PD, completely absent, or only found in controls. Therefore, the 33 reported candidate genes and associated variants are unlikely to confer significant PD risk in the East Asian population. |
| first_indexed | 2024-10-01T06:48:43Z |
| format | Journal Article |
| id | ntu-10356/141236 |
| institution | Nanyang Technological University |
| language | English |
| last_indexed | 2024-10-01T06:48:43Z |
| publishDate | 2020 |
| record_format | dspace |
| spelling | ntu-10356/1412362020-11-01T05:25:41Z Evaluation of novel Parkinson's disease candidate genes in the Chinese population Chew, Elaine Guo Yan Liany, Herty Tan, Louis C. S. Au, Wing-Lok Prakash, Kumar-M. Azlina Ahmad Annuar Chan, Anne Y. Y. Lim, Shen-Yang Mok, Vincent Chung, Sun Ju Song, Kyuyoung Liu, Jianjun Foo, Jia Nee Tan, Eng-King Lee Kong Chian School of Medicine (LKCMedicine) Science::Biological sciences::Genetics Parkinson's Disease Genetics Recent whole-exome sequencing studies in European patients with Parkinson's disease (PD) have identified potential risk variants across 33 novel PD candidate genes. We aim to determine if these reported candidate genes are similarly implicated in Asians by assessing common, rare, and novel nonsynonymous coding variants by sequencing all 33 genes in 198 Chinese samples and genotyping coding variants in an independent set of 9756 Chinese samples. We carried out further targeted sequencing of CD36 in an additional 576 Chinese and Korean samples. We found that only 8 of 43 reported risk variants were polymorphic in our Chinese samples. We identified several heterozygotes for rare loss-of-function mutations, including the reported CD36 p.Gln74Ter variant, in both cases and controls. We also observed 2 potential compound heterozygotes among PD cases for rare loss-of-function mutations in CD36 and SSPO. The other reported variants were common in East Asians and not associated with PD, completely absent, or only found in controls. Therefore, the 33 reported candidate genes and associated variants are unlikely to confer significant PD risk in the East Asian population. NRF (Natl Research Foundation, S’pore) ASTAR (Agency for Sci., Tech. and Research, S’pore) NMRC (Natl Medical Research Council, S’pore) Accepted version 2020-06-05T04:09:55Z 2020-06-05T04:09:55Z 2018 Journal Article Chew, E. G. Y., Liany, H., Tan, L. C. S., Au, W.-L., Prakash, K.-M., Azlina Ahmad Annuar, . . . Tan, E.-K. (2019). Evaluation of novel Parkinson's disease candidate genes in the Chinese population. Neurobiology of Aging, 74, 235.e1-235.e4. doi:10.1016/j.neurobiolaging.2018.09.013 0197-4580 https://hdl.handle.net/10356/141236 10.1016/j.neurobiolaging.2018.09.013 74 235.e1 235.e4 en Neurobiology of Aging © 2018 Elsevier Inc. All rights reserved. This paper was published in Neurobiology of Aging and is made available with permission of Elsevier Inc. application/pdf application/pdf application/pdf |
| spellingShingle | Science::Biological sciences::Genetics Parkinson's Disease Genetics Chew, Elaine Guo Yan Liany, Herty Tan, Louis C. S. Au, Wing-Lok Prakash, Kumar-M. Azlina Ahmad Annuar Chan, Anne Y. Y. Lim, Shen-Yang Mok, Vincent Chung, Sun Ju Song, Kyuyoung Liu, Jianjun Foo, Jia Nee Tan, Eng-King Evaluation of novel Parkinson's disease candidate genes in the Chinese population |
| title | Evaluation of novel Parkinson's disease candidate genes in the Chinese population |
| title_full | Evaluation of novel Parkinson's disease candidate genes in the Chinese population |
| title_fullStr | Evaluation of novel Parkinson's disease candidate genes in the Chinese population |
| title_full_unstemmed | Evaluation of novel Parkinson's disease candidate genes in the Chinese population |
| title_short | Evaluation of novel Parkinson's disease candidate genes in the Chinese population |
| title_sort | evaluation of novel parkinson s disease candidate genes in the chinese population |
| topic | Science::Biological sciences::Genetics Parkinson's Disease Genetics |
| url | https://hdl.handle.net/10356/141236 |
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