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Analysis of non-synonymous-coding variants of Parkinson's disease-related pathogenic and susceptibility genes in East Asian populations.

Publication ,  Journal Article
Foo, JN; Tan, LC; Liany, H; Koh, TH; Irwan, ID; Ng, YY; Ahmad-Annuar, A; Au, W-L; Aung, T; Chan, AYY; Chong, S-A; Chung, SJ; Jung, Y; Kim, J ...
Published in: Hum Mol Genet
July 15, 2014

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 non-synonymous-coding variants in 375 early-onset PD cases and 399 controls. We also genotyped 782 non-synonymous-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 = 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.

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Published In

Hum Mol Genet

DOI

EISSN

1460-2083

Publication Date

July 15, 2014

Volume

23

Issue

14

Start / End Page

3891 / 3897

Location

England

Related Subject Headings

  • Sequence Analysis, DNA
  • Polymorphism, Single Nucleotide
  • Parkinson Disease
  • Open Reading Frames
  • Middle Aged
  • Male
  • Humans
  • Genotype
  • Genetics & Heredity
  • Genetic Variation
 

Citation

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Chicago
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Foo, J. N., Tan, L. C., Liany, H., Koh, T. H., Irwan, I. D., Ng, Y. Y., … Liu, J. (2014). Analysis of non-synonymous-coding variants of Parkinson's disease-related pathogenic and susceptibility genes in East Asian populations. Hum Mol Genet, 23(14), 3891–3897. https://doi.org/10.1093/hmg/ddu086
Foo, Jia Nee, Louis C. Tan, Herty Liany, Tat Hung Koh, Ishak D. Irwan, Yen Yek Ng, Azlina Ahmad-Annuar, et al. “Analysis of non-synonymous-coding variants of Parkinson's disease-related pathogenic and susceptibility genes in East Asian populations.Hum Mol Genet 23, no. 14 (July 15, 2014): 3891–97. https://doi.org/10.1093/hmg/ddu086.
Foo JN, Tan LC, Liany H, Koh TH, Irwan ID, Ng YY, et al. Analysis of non-synonymous-coding variants of Parkinson's disease-related pathogenic and susceptibility genes in East Asian populations. Hum Mol Genet. 2014 Jul 15;23(14):3891–7.
Foo, Jia Nee, et al. “Analysis of non-synonymous-coding variants of Parkinson's disease-related pathogenic and susceptibility genes in East Asian populations.Hum Mol Genet, vol. 23, no. 14, July 2014, pp. 3891–97. Pubmed, doi:10.1093/hmg/ddu086.
Foo JN, Tan LC, Liany H, Koh TH, Irwan ID, Ng YY, Ahmad-Annuar A, Au W-L, Aung T, Chan AYY, Chong S-A, Chung SJ, Jung Y, Khor CC, Kim J, Lee J, Lim S-Y, Mok V, Prakash K-M, Song K, Tai E-S, Vithana EN, Wong T-Y, Tan E-K, Liu J. Analysis of non-synonymous-coding variants of Parkinson's disease-related pathogenic and susceptibility genes in East Asian populations. Hum Mol Genet. 2014 Jul 15;23(14):3891–3897.
Journal cover image

Published In

Hum Mol Genet

DOI

EISSN

1460-2083

Publication Date

July 15, 2014

Volume

23

Issue

14

Start / End Page

3891 / 3897

Location

England

Related Subject Headings

  • Sequence Analysis, DNA
  • Polymorphism, Single Nucleotide
  • Parkinson Disease
  • Open Reading Frames
  • Middle Aged
  • Male
  • Humans
  • Genotype
  • Genetics & Heredity
  • Genetic Variation