Please use this identifier to cite or link to this item: https://hdl.handle.net/10356/141184
Title: Genome-wide association study of Parkinson’s disease in East Asians
Authors: Foo, Jia Nee
Tan, Louis C.
Irwan, Ishak D.
Au, Wing-Lok
Low, Hui Qi
Prakash, Kumar-M.
Azlina Ahmad-Annuar
Bei, Jinxin
Chan, Anne Y. Y.
Chen, Chiung Mei
Chen, Yi-Chun
Chung, Sun Ju
Deng, Hao
Lim, Shen-Yang
Mok, Vincent
Pang, Hao
Pei, Zhong
Peng, Rong
Shang, Hui-Fang
Song, Kyuyoung
Tan, Ai Huey
Wu, Yih-Ru
Aung, Tin
Cheng, Ching-Yu
Chew, Fook Tim
Chew, Soo-Hong
Chong, Siow-Ann
Ebstein, Richard P.
Lee, Jimmy
Saw, Seang-Mei
Seow, Adeline
Subramaniam, Mythily
Tai, E-Shyong
Vithana, Eranga N.
Wong, Tien-Yin
Heng, Khai Koon
Meah, Wee-Yang
Khor, Chiea Chuen
Liu, Hong
Zheng, Furen
Liu, Jianjun
Tan, Eng-King
Keywords: Science::Medicine
Issue Date: 2016
Source: Foo, J. N., Tan, L. C., Irwan, I. D., Au, W.-L., Low, H. Q., Prakash, K.-M., . . . Tan, E.-K. (2017). Genome-wide association study of Parkinson’s disease in East Asians. Human Molecular Genetics, 26(1), 226-232. doi:10.1093/hmg/ddw379
Journal: Human Molecular Genetics
Abstract: Genome-wide association studies (GWAS) on Parkinson’s disease (PD) have mostly been done in Europeans and Japanese. No study has been done in Han Chinese, which make up nearly a fifth of the world population. We conducted the first Han Chinese GWAS analysing a total of 22,729 subjects (5,125 PD cases and 17,604 controls) from Singapore, Hong Kong, Malaysia, Korea, mainland China and Taiwan. We performed imputation, merging and logistic regression analyses of 2,402,394 SNPs passing quality control filters in 779 PD cases, 13,227 controls, adjusted for the first three principal components. 90 SNPs with association P < 10−4 were validated in 9 additional sample collections and the results were combined using fixed-effects inverse-variance meta-analysis. We observed strong associations reaching genome-wide significance at SNCA, LRRK2 and MCCC1, confirming their important roles in both European and Asian PD. We also identified significant (P < 0.05) associations at 5 loci (DLG2, SIPA1L2, STK39, VPS13C and RIT2), and observed the same direction of associations at 9 other loci including BST1 and PARK16. Allelic heterogeneity was observed at LRRK2 while European risk SNPs at 6 other loci including MAPT and GBA-SYT11 were non-polymorphic or very rare in our cohort. Overall, we replicate associations at SNCA, LRRK2, MCCC1 and 14 other European PD loci but did not identify Asian-specific loci with large effects (OR > 1.45) on PD risk. Our results also demonstrate some differences in the genetic contribution to PD between Europeans and Asians. Further pan-ethnic meta-analysis with European GWAS cohorts may unravel new PD loci.
URI: https://hdl.handle.net/10356/141184
ISSN: 0964-6906
DOI: 10.1093/hmg/ddw379
Rights: © 2016 The Author(s). All rights reserved. This paper was published by Oxford University Press in Human Molecular Genetics and is made available with permission of The Author(s).
Fulltext Permission: open
Fulltext Availability: With Fulltext
Appears in Collections:LKCMedicine Journal Articles

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