Evaluation of novel Parkinson's disease candidate genes in the Chinese population

Chew, Elaine Guo Yan and Liany, Herty and Tan, Louis C.S. and Au, Wing-Lok and Prakash, Kumar-M. and Annuar, Azlina Ahmad and Chan, Anne Y.Y. and Lim, Shen Yang and Mok, Vincent and Chung, Sun Ju and Song, Kyuyoung and Liu, Jianjun and Foo, Jia Nee and Tan, Eng-King (2019) Evaluation of novel Parkinson's disease candidate genes in the Chinese population. Neurobiology of Aging, 74. 235.e1-235.e4. ISSN 0197-4580, DOI https://doi.org/10.1016/j.neurobiolaging.2018.09.013.

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Official URL: https://doi.org/10.1016/j.neurobiolaging.2018.09.0...


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.

Item Type: Article
Funders: National Medical Research Council under the Singapore Translational Research Investigator Award (STaR; NMRC/STaR/014/2013 to E-KT), Translational and Clinical Research Flagship Program in Parkinson's disease (NMRC/TCR/013-NNI/2014), Agency for Science, Technology and Research, Duke-NUS Graduate Medical School, Singapore Millennium Foundation, Singapore National Research Foundation fellow (NRF-NRFF2016-03)
Uncontrolled Keywords: Parkinson's disease; Genetics; Chinese population
Subjects: R Medicine
Divisions: Faculty of Medicine
Depositing User: Ms. Juhaida Abd Rahim
Date Deposited: 22 Jan 2019 03:44
Last Modified: 22 Jan 2019 03:44
URI: http://eprints.um.edu.my/id/eprint/20094

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