Please use this identifier to cite or link to this item: https://doi.org/10.1093/hmg/ddu086
Title: Analysis of non-synonymous-coding variants of parkinson's disease-related pathogenic and susceptibility genes in East Asian populations
Authors: Foo J.N.
Tan L.C. 
Liany H.
Koh T.H.
Irwan I.D.
Ng Y.Y.
Ahmad-Annuar A.
Au W.-L. 
Aung T. 
Chan A.Y.Y.
Chong S.-A.
Chung S.J.
Jung Y.
Khor C.C. 
Kim J.
Lee J. 
Lim S.-Y.
Mok V.
Prakash K.-M. 
Song K.
Tai E.-S. 
Vithana E.N. 
Wong T.-Y. 
Tan E.-K. 
Liu J. 
Issue Date: 2014
Publisher: Oxford University Press
Citation: Foo J.N., Tan L.C., Liany H., Koh T.H., Irwan I.D., Ng Y.Y., Ahmad-Annuar A., Au W.-L., Aung T., Chan A.Y.Y., Chong S.-A., Chung S.J., Jung Y., Khor C.C., Kim J., Lee J., Lim S.-Y., Mok V., Prakash K.-M., Song K., Tai E.-S., Vithana E.N., Wong T.-Y., Tan E.-K., Liu J. (2014). Analysis of non-synonymous-coding variants of parkinson's disease-related pathogenic and susceptibility genes in East Asian populations. Human Molecular Genetics 23 (14) : 3891-3897. ScholarBank@NUS Repository. https://doi.org/10.1093/hmg/ddu086
Abstract: To evaluate the contribution of non-synonymous-coding variants of known familial and genome-wide association studies (GWAS)-linked genes for Parkinson's disease (PD) to PD risk in the East Asian population, we sequenced all the coding exons of 39 PD-related disease genes and evaluated the accumulation of rare nonsynonymous- coding variants in 375 early-onset PD cases and 399 controls. We also genotyped 782 nonsynonymous- coding variants of these genes in 710 late-onset PD cases and 9046 population controls. Significant enrichment of LRRK2 variants was observed in both early- and late-onset PD (odds ratio 5 1.58; 95% confidence interval = 1.29-1.93; P = 8.05 × 10-6). Moderate enrichment was also observed in FGF20, MCCC1, GBA and ITGA8. Half of the rare variants anticipated to cause loss of function of these genes were present in healthy controls. Overall, non-synonymous-coding variants of known familial and GWAS-linked genes appear to make a limited contribution to PD risk, suggesting that clinical sequencing of these genes will provide limited information for risk prediction and molecular diagnosis. © The Author 2014.
Source Title: Human Molecular Genetics
URI: http://scholarbank.nus.edu.sg/handle/10635/150109
ISSN: 9646906
DOI: 10.1093/hmg/ddu086
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