Whole-genome sequencing reveals that variants in the Interleukin 18 Receptor Accessory Protein 3′UTR protect against ALS
Open accessAbstract
The noncoding genome is substantially larger than the protein-coding genome but has been largely unexplored by genetic association studies. Here, we performed region-based rare variant association analysis of >25,000 variants in untranslated regions of 6,139 amyotrophic lateral sclerosis (ALS) whole genomes and the whole genomes of 70,403 non-ALS controls. We identified interleukin-18 receptor accessory protein (IL18RAP) 3' untranslated region (3'UTR) variants as significantly enriched in non-ALS genomes and associated with a fivefold reduced risk of developing ALS, and this was replicated in an independent cohort. These variants in the IL18RAP 3'UTR reduce mRNA stability and the binding of double-stranded RNA (dsRNA)-binding proteins. Finally, the variants of the IL18RAP 3'UTR confer a survival advantage for motor neurons because they dampen neurotoxicity of human induced pluripotent stem cell (iPSC)-derived microglia bearing an ALS-associated expansion in C9orf72, and this depends on NF-κB signaling. This study reveals genetic variants that protect against ALS by reducing neuroinflammation and emphasizes the importance of noncoding genetic association studies.
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IL18RAP 3′UTR variants are protective factors that reduce the risk of developing ALS fivefold, delay onset, and delay the age of death in individuals with ALS.
“Recently, interleukin-18 receptor accessory protein (IL18RAP) 3′ untranslated region (3′UTR) variants were identified as protective factors which reduced the risk of developing ALS fivefold, delayed onset, and therefore the age of death in individuals with ALS.”
From Microglia in neurodegenerative diseases: mechanism and potential therapeutic targets (2023) · cites this paper as [358]
IL18RAP is upstream of NF-κB, and the variants downregulate IL18RAP-NF-κB signaling in microglia.
“Mechanistically, IL18RAP is upstream of NF-κB; thus, the variants downregulate IL18RAP–NF-κB signaling in microglia.”
From Microglia in neurodegenerative diseases: mechanism and potential therapeutic targets (2023) · cites this paper as [358]
IL18RAP 3′UTR variants reduce mRNA stability and binding of double-stranded RNA-binding proteins.
“These variants in the IL18RAP 3′UTR reduce mRNA stability and the binding of double-stranded RNA (dsRNA)-binding proteins.”
From Microglia in neurodegenerative diseases: mechanism and potential therapeutic targets (2023) · cites this paper as [358]
Alleviating microglia-mediated neurotoxicity has a protective effect in ALS.
“This study highlights the protective effect of alleviating microglia-mediated neurotoxicity in ALS.”
From Microglia in neurodegenerative diseases: mechanism and potential therapeutic targets (2023) · cites this paper as [358]
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- Authors
- Eitan, C., Siany, A., Barkan, E., Olender, T., van Eijk, K. R., Moisse, M., Farhan, S. M. K., Danino, Y. M., Yanowski, E., Marmor-Kollet, H., Rivkin, N., Yacovzada, N. S., Hung, S.-T., Cooper-Knock, J., Yu, C.-H., Louis, C., Masters, S. L., Kenna, K. P., van der Spek, R. A. A., Sproviero, W., Al Khleifat, A., Iacoangeli, A., Shatunov, A., Jones, A. R., Elbaz-Alon, Y., Cohen, Y., Chapnik, E., Rothschild, D., Weissbrod, O., Beck, G., Ainbinder, E., Ben-Dor, S., Werneburg, S., Schafer, D. P., Brown, R. H., Shaw, P. J., Van Damme, P., van den Berg, L. H., Phatnani, H., Segal, E., Ichida, J. K., Al-Chalabi, A., Veldink, J. H., Project MinE ALS Sequencing Consortium, Cooper-Knock, J., Kenna, K. P., Van Damme, P., van den Berg, L. H., Hornstein, E., NYGC ALS Consortium, & Hornstein, E.
- Affiliations
- Weizmann Institute of Science (IL)
- VIB-KU Leuven Center for Brain & Disease Research (BE)
- Broad Institute (US)
- University of Southern California (US)
- The University of Melbourne (AU)
- King's College London (GB)
- University of Massachusetts Chan Medical School (US)
- University of Sheffield (GB)
- New York Genome Center (US)
- Utrecht University (NL)
- ORCID
- Eitan, Chen
- Siany, Aviad
- Barkan, Elad
- Olender, Tsviya
- Moisse, Matthieu
- Farhan, Sali M. K.
- Danino, Yehuda M.
- Yanowski, Eran
- Yacovzada, Nancy Sarah
- Hung, Shu-Ting
- Yu, Chien-Hsiung
- Louis, Cynthia
- Masters, Seth L.
- Sproviero, William
- Al Khleifat, Ahmad
- Iacoangeli, Alfredo
- Shatunov, Aleksey
- Jones, Ashley R.
- Elbaz-Alon, Yael
- Cohen, Yahel
- Rothschild, Daphna
- Weissbrod, Omer
- Beck, Gilad
- Ainbinder, Elena
- Ben-Dor, Shifra
- Werneburg, Sebastian
- Schafer, Dorothy P.
- Brown, Robert H.
- Shaw, Pamela J.
- Phatnani, Hemali
- Segal, Eran
- Ichida, Justin K.
- Al-Chalabi, Ammar
- Veldink, Jan H.
- Venue
- Nature Neuroscience
- Published
- 2022-03-31
- Volume
- 25
- Issue
- 4
- Pages
- 433-445
- ISSN
- 1097-6256 (ISSN-L)
- 1546-1726
- PMC
- PMC7614916
- OpenAlex
- W4220712320
- Cited by
- 38
- References
- 114
- Citations by year
- 2026: 2 · 2025: 10 · 2024: 8 · 2023: 13 · 2022: 5
- FWCI
- 4.73
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Nature Neuroscience (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion, cc-by)
- eScholarship@UMassChan (submittedVersion)
- White Rose Research Online (University of Leeds, The University of Sheffield, University of York) (submittedVersion)
- Research Portal (King's College London) (submittedVersion)
- Lirias (submittedVersion)
- Funders
- Wellcome Trust (216596/Z/19/Z)
- Health Research Board (JPI-JPND-2017-1)
- National Institute for Health and Care Research (NF-SI-0617-10077, NIHR202421)
- Motor Neurone Disease Association (Al Khleifat/Oct21/975-799, ALCHALABI-DOBSON/APR14/829-791)
- Agence Nationale de la Recherche (ANR-17-JPCD-0001)
- Medical Research Council (MR/R024804/1, MR/L501529/1)
- Economic and Social Research Council (ES/L008238/1)
- National Institute of Neurological Disorders and Stroke (R01NS097850, R01NS073873, R01NS104022, R01NS111990)
- Topics
- Health Sciences › Medicine › Neurology › Amyotrophic Lateral Sclerosis Research
- Health Sciences › Medicine › Pathology and Forensic Medicine › Multiple Sclerosis Research Studies
- Health Sciences › Medicine › Physiology › Alzheimer's disease research and treatments
- Keywords
- amyotrophic lateral sclerosis, IL18RAP, 3' untranslated region, non-coding variants, rare variant association, mRNA stability, double-stranded RNA-binding protein, C9orf72 repeat expansion, NF-κB signaling, neuroinflammation, motor neuron survival
- MeSH terms
- Amyotrophic Lateral Sclerosis, Humans, Motor Neurons, 3' Untranslated Regions, Interleukin-18 Receptor beta Subunit, Induced Pluripotent Stem Cells
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Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
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