Please use this identifier to cite or link to this item: https://doi.org/10.1093/hmg/ddu086
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dc.titleAnalysis of non-synonymous-coding variants of parkinson's disease-related pathogenic and susceptibility genes in East Asian populations
dc.contributor.authorFoo J.N.
dc.contributor.authorTan L.C.
dc.contributor.authorLiany H.
dc.contributor.authorKoh T.H.
dc.contributor.authorIrwan I.D.
dc.contributor.authorNg Y.Y.
dc.contributor.authorAhmad-Annuar A.
dc.contributor.authorAu W.-L.
dc.contributor.authorAung T.
dc.contributor.authorChan A.Y.Y.
dc.contributor.authorChong S.-A.
dc.contributor.authorChung S.J.
dc.contributor.authorJung Y.
dc.contributor.authorKhor C.C.
dc.contributor.authorKim J.
dc.contributor.authorLee J.
dc.contributor.authorLim S.-Y.
dc.contributor.authorMok V.
dc.contributor.authorPrakash K.-M.
dc.contributor.authorSong K.
dc.contributor.authorTai E.-S.
dc.contributor.authorVithana E.N.
dc.contributor.authorWong T.-Y.
dc.contributor.authorTan E.-K.
dc.contributor.authorLiu J.
dc.date.accessioned2018-12-21T07:03:31Z
dc.date.available2018-12-21T07:03:31Z
dc.date.issued2014
dc.identifier.citationFoo 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
dc.identifier.issn9646906
dc.identifier.urihttp://scholarbank.nus.edu.sg/handle/10635/150109
dc.description.abstractTo 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 &times 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.
dc.publisherOxford University Press
dc.sourceScopus
dc.typeArticle
dc.contributor.departmentBIOCHEMISTRY
dc.contributor.departmentMEDICINE
dc.contributor.departmentDUKE-NUS MEDICAL SCHOOL
dc.description.doi10.1093/hmg/ddu086
dc.description.sourcetitleHuman Molecular Genetics
dc.description.volume23
dc.description.issue14
dc.description.page3891-3897
dc.published.statePublished
dc.grant.idSMF
dc.grant.idA*STAR
dc.grant.idE000033
dc.grant.fundingagencySingapore Millennium Foundation
dc.grant.fundingagencyAgency for Science, Technology and Research
dc.grant.fundingagencyMOHE, Ministry of Higher Education
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