期刊
NEUROBIOLOGY OF AGING
卷 39, 期 -, 页码 -出版社
ELSEVIER SCIENCE INC
DOI: 10.1016/j.neurobiolaging.2015.12.012
关键词
Amyotrophic lateral sclerosis; C9orf72; Genetic modifiers; NIPA1; Repeat expansions
资金
- Netherlands Organization for Health Research and Development
- ALS Foundation Netherlands
- European Community's Health Seventh Framework Programme [n259867]
- SOPHIA
- STRENGTH project (EU Joint Programme-Neurodegenerative Disease Research, JPND)
- Prinses Beatrix Spierfonds
Sporadic amyotrophic lateral sclerosis (ALS) is considered to be a complex disease with multiple genetic risk factors contributing to the pathogenesis. Identification of genetic risk factors that co-occur frequently could provide relevant insight into underlying mechanisms of motor neuron degeneration. To dissect the genetic architecture of sporadic ALS, we undertook a large sequencing study in 755 apparently sporadic ALS cases and 959 controls, analyzing 10 ALS genes: SOD1, C9orf72, TARDBP, FUS, ANG, CHMP2B, ATXN2, NIPA1, SMN1, and UNC13A. We observed sporadic cases with multiple genetic risk variants in 4.1% compared with 1.3% in controls. The overall difference was not in excess of what is to be expected by chance (binomial test, p = 0.59). We did, however, observe a higher frequency than expected of C9orf72 repeat carriers with co-occurring susceptibility variants (ATXN2, NIPA1, and SMN1; p = 0.001), which is mainly because of the co-occurrence of NIPA1 repeats in 15% of C9orf72 repeat carriers (p = 0.006). (C) 2016 Elsevier Inc. All rights reserved.
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