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

Benyamin, Beben, He, Ji, Zhao, Qiongyi, Gratten, Jacob, Garton, Fleur, Leo, Paul J., Liu, Zhijun, Mangelsdorf, Marie, Al-Chalabi, Ammar, Anderson, Lisa, Butler, Timothy J., Chen, Lu, Chen, Xiang-Ding, Cremin, Katie, Deng, Hong-Weng, Devine, Matthew, Edson, Janette, Fifita, Jennifer A., Furlong, Sarah, Han, Ying-Ying, Harris, Jessica, Henders, Anjali K., Jeffree, Rosalind L., Jin, Zi-Bing, Li, Zhongshan, Li, Ting, Li, Mengmeng, Lin, Yong, Liu, Xiaolu, Marshall, Mhairi, McCann, Emily P., Mowry, Bryan J., Ngo, Shyuan T., Pamphlett, Roger, Ran, Shu, Reutens, David C., Rowe, Dominic B., Sachdev, Perminder, Shah, Sonia, Song, Sharon, Tan, Li-Jun, Tang, Lu, van den Berg, Leonard H., van Rheenen, Wouter, Veldink, Jan H., Wallace, Robyn H., Wheeler, Lawrie, Williams, Kelly L., Wu, Jinyu, Wu, Xin, Yang, Jian, Yue, Weihua, Zhang, Zong-Hong, Zhang, Dai, Noakes, Peter G., Blair, Ian P., Henderson, Robert D., McCombe, Pamela A., Visscher, Peter M., Xu, Huji, Bartlett, Perry F., Brown, Matthew A., Wray, Naomi R. and Fan, Dongsheng (2017) Cross-ethnic meta-analysis identifies association of the GPX3-TNIP1 locus with amyotrophic lateral sclerosis. Nature Communications, 8 1: 611. doi:10.1038/s41467-017-00471-1

Author Benyamin, Beben
He, Ji
Zhao, Qiongyi
Gratten, Jacob
Garton, Fleur
Leo, Paul J.
Liu, Zhijun
Mangelsdorf, Marie
Al-Chalabi, Ammar
Anderson, Lisa
Butler, Timothy J.
Chen, Lu
Chen, Xiang-Ding
Cremin, Katie
Deng, Hong-Weng
Devine, Matthew
Edson, Janette
Fifita, Jennifer A.
Furlong, Sarah
Han, Ying-Ying
Harris, Jessica
Henders, Anjali K.
Jeffree, Rosalind L.
Jin, Zi-Bing
Li, Zhongshan
Li, Ting
Li, Mengmeng
Lin, Yong
Liu, Xiaolu
Marshall, Mhairi
McCann, Emily P.
Mowry, Bryan J.
Ngo, Shyuan T.
Pamphlett, Roger
Ran, Shu
Reutens, David C.
Rowe, Dominic B.
Sachdev, Perminder
Shah, Sonia
Song, Sharon
Tan, Li-Jun
Tang, Lu
van den Berg, Leonard H.
van Rheenen, Wouter
Veldink, Jan H.
Wallace, Robyn H.
Wheeler, Lawrie
Williams, Kelly L.
Wu, Jinyu
Wu, Xin
Yang, Jian
Yue, Weihua
Zhang, Zong-Hong
Zhang, Dai
Noakes, Peter G.
Blair, Ian P.
Henderson, Robert D.
McCombe, Pamela A.
Visscher, Peter M.
Xu, Huji
Bartlett, Perry F.
Brown, Matthew A.
Wray, Naomi R.
Fan, Dongsheng
Title Cross-ethnic meta-analysis identifies association of the GPX3-TNIP1 locus with amyotrophic lateral sclerosis
Journal name Nature Communications   Check publisher's open access policy
ISSN 2041-1723
Publication date 2017-09-20
Year available 2017
Sub-type Article (original research)
DOI 10.1038/s41467-017-00471-1
Open Access Status DOI
Volume 8
Issue 1
Start page 611
Total pages 7
Place of publication London, United Kingdom
Publisher Nature Publishing Group
Language eng
Subject 1600 Chemistry
1300 Biochemistry, Genetics and Molecular Biology
3100 Physics and Astronomy
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), with replication support from two independent Australian samples (combined 576 cases and 683 controls, p = 1.7 × 10). 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.
Keyword Genome-Wide Association
Kappa-B Activation
Common Snps
Q-Index Code C1
Q-Index Status Provisional Code
Grant ID 104532
Institutional Status UQ

Version Filter Type
Citation counts: TR Web of Science Citation Count  Cited 2 times in Thomson Reuters Web of Science Article | Citations
Scopus Citation Count Cited 2 times in Scopus Article | Citations
Google Scholar Search Google Scholar
Created: Mon, 09 Oct 2017, 11:33:56 EST by Kirstie Asmussen on behalf of Learning and Research Services (UQ Library)