期刊
NATURE COMMUNICATIONS
卷 8, 期 -, 页码 -出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/s41467-017-00471-1
关键词
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资金
- Australian Research Council (ARC) Linkage Grant
- Peter Goodenough Foundation
- National Natural Science Foundation of China [81030019, 81601105, 81522014]
- National Health and Medical Research Council (NHMRC) [1084417, 1079583, 1078037, 1095215, 1092023]
- MNDRIA
- MNDRIA (Bill Gole Fellowship)
- MNDRIA (MND Australia Leadership Grant)
- MNDRIA (scholarship top ups)
- Ross Maclean Senior Research Fellowships
- Sylvia & Charles Viertel Charitable Foundation
- NHMRC/ARC [401162, 104532]
- NHMRC Enabling Grant [104532, 310667]
- MNDRIA (Mick Roger Benalla Grant)
- National Health and Medical Research Council of Australia [1092023, 1084417, 1079583] Funding Source: NHMRC
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 x 10(-8)), with replication support from two independent Australian samples (combined 576 cases and 683 controls, p = 1.7 x 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.
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