Cross-ethnic meta-analysis identifies association of the GPX3-TNIP1 locus with amyotrophic lateral sclerosis

Beben Benyamin, Ji He, Qiongyi Zhao, Jacob Gratten, Fleur Garton, Paul J. Leo, Zhijun Liu, Marie Mangelsdorf, Ammar Al-Chalabi, Lisa Anderson, Timothy J. Butler, Lu Chen, Xiang-Ding Chen, Katie Cremin, Hong-Weng Deng, Matthew Devine, Janette Edson, Jennifer A. Fifita, Sarah Furlong, Ying-Ying Han, Jessica Harris, Anjali K. Henders, Rosalind L. Jeffree, Zi-Bing Jin, Zhongshan Li, Ting Li, Mengmeng Li, Yong Lin, Xiaolu Liu, Mhairi Marshall, Emily P. McCann, Bryan J. Mowry, Shyuan T. Ngo, Roger Pamphlett, Shu Ran, David C. Reutens, Dominic B. Rowe, Perminder Sachdev, Sonia Shah, Sharon Song, Li-Jun Tan, Lu Tang, Leonard H. Berg, Wouter Rheenen, Jan H. Veldink, Robyn H. Wallace, Lawrie Wheeler, Kelly L. Williams, Jinyu Wu, Xin Wu, Jian Yang, Weihua Yue, Zong-Hong Zhang, Dai Zhang, Peter G. Noakes, Ian P. Blair, Robert D. Henderson, Pamela A. McCombe, Peter M. Visscher, Huji Xu, Perry F. Bartlett, Matthew A. Brown, Naomi R. Wray () and Dongsheng Fan
Additional contact information
Beben Benyamin: The University of Queensland
Ji He: Peking University, Third Hospital
Qiongyi Zhao: The University of Queensland
Jacob Gratten: The University of Queensland
Fleur Garton: The University of Queensland
Paul J. Leo: University of Queensland Diamantina Institute, The University of Queensland, Translational Research Institute
Zhijun Liu: The University of Queensland
Marie Mangelsdorf: The University of Queensland
Ammar Al-Chalabi: King’s College London
Lisa Anderson: University of Queensland Diamantina Institute, The University of Queensland, Translational Research Institute
Timothy J. Butler: The University of Queensland
Lu Chen: Peking University, Third Hospital
Xiang-Ding Chen: Hunan Normal University
Katie Cremin: University of Queensland Diamantina Institute, The University of Queensland, Translational Research Institute
Hong-Weng Deng: Tulane University
Matthew Devine: Royal Brisbane & Women’s Hospital
Janette Edson: The University of Queensland
Jennifer A. Fifita: Macquarie University
Sarah Furlong: The University of Queensland
Ying-Ying Han: University of Shanghai for Science and Technology
Jessica Harris: University of Queensland Diamantina Institute, The University of Queensland, Translational Research Institute
Anjali K. Henders: The University of Queensland
Rosalind L. Jeffree: Royal Brisbane & Women’s Hospital
Zi-Bing Jin: The Eye Hospital of Wenzhou Medical University
Zhongshan Li: Wenzhou Medical University
Ting Li: The Second Military Medical University
Mengmeng Li: The Second Military Medical University
Yong Lin: University of Shanghai for Science and Technology
Xiaolu Liu: Peking University, Third Hospital
Mhairi Marshall: University of Queensland Diamantina Institute, The University of Queensland, Translational Research Institute
Emily P. McCann: Macquarie University
Bryan J. Mowry: The University of Queensland
Shyuan T. Ngo: The University of Queensland
Roger Pamphlett: The University of Sydney
Shu Ran: University of Shanghai for Science and Technology
David C. Reutens: The University of Queensland
Dominic B. Rowe: Macquarie University
Perminder Sachdev: The University of New South Wales
Sonia Shah: The University of Queensland
Sharon Song: University of Queensland Diamantina Institute, The University of Queensland, Translational Research Institute
Li-Jun Tan: Hunan Normal University
Lu Tang: Peking University, Third Hospital
Leonard H. Berg: University Medical Center Utrecht
Wouter Rheenen: University Medical Center Utrecht
Jan H. Veldink: University Medical Center Utrecht
Robyn H. Wallace: The University of Queensland
Lawrie Wheeler: University of Queensland Diamantina Institute, The University of Queensland, Translational Research Institute
Kelly L. Williams: Macquarie University
Jinyu Wu: Wenzhou Medical University
Xin Wu: The Second Military Medical University
Jian Yang: The University of Queensland
Weihua Yue: Peking University
Zong-Hong Zhang: The University of Queensland
Dai Zhang: Peking University
Peter G. Noakes: Royal Brisbane & Women’s Hospital
Ian P. Blair: Macquarie University
Robert D. Henderson: The University of Queensland
Pamela A. McCombe: Royal Brisbane & Women’s Hospital
Peter M. Visscher: The University of Queensland
Huji Xu: The Second Military Medical University
Perry F. Bartlett: The University of Queensland
Matthew A. Brown: University of Queensland Diamantina Institute, The University of Queensland, Translational Research Institute
Naomi R. Wray: The University of Queensland
Dongsheng Fan: Peking University, Third Hospital

Nature Communications, 2017, vol. 8, issue 1, 1-7

Abstract: Abstract Cross-ethnic genetic studies can leverage power from differences in disease epidemiology and population-specific genetic architecture. In particular, the differences in linkage disequilibrium and allele frequency patterns across ethnic groups may increase gene-mapping resolution. Here we use cross-ethnic genetic data in sporadic amyotrophic lateral sclerosis (ALS), an adult-onset, rapidly progressing neurodegenerative disease. We report analyses of novel genome-wide association study data of 1,234 ALS cases and 2,850 controls. We find a significant association of rs10463311 spanning GPX3-TNIP1 with ALS (p = 1.3 × 10−8), with replication support from two independent Australian samples (combined 576 cases and 683 controls, p = 1.7 × 10−3). Both GPX3 and TNIP1 interact with other known ALS genes (SOD1 and OPTN, respectively). In addition, GGNBP2 was identified using gene-based analysis and summary statistics-based Mendelian randomization analysis, although further replication is needed to confirm this result. Our results increase our understanding of genetic aetiology of ALS.

Date: 2017
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DOI: 10.1038/s41467-017-00471-1

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