Germline Mutations in CIDEB and Protection against Liver Disease
Open accessAbstract
BACKGROUNDExome sequencing in hundreds of thousands of persons may enable the identification of rare protein-coding genetic variants associated with protection from human diseases like liver cirrhosis, providing a strategy for the discovery of new therapeutic targets. METHODSWe performed a multistage exome sequencing and genetic association analysis to identify genes in which rare protein-coding variants were associated with liver phenotypes.We conducted in vitro experiments to further characterize associations. RESULTSThe multistage analysis involved 542,904 persons with available data on liver aminotransferase levels, 24,944 patients with various types of liver disease, and 490,636 controls without liver disease.We found that rare coding variants in APOB, ABCB4, SLC30A10, and TM6SF2 were associated with increased aminotransferase levels and an increased risk of liver disease.We also found that variants in CIDEB, which encodes a structural protein found in hepatic lipid droplets, had a protective effect.The burden of rare predicted loss-of-function variants plus missense variants in CIDEB (combined carrier frequency, 0.7%) was associated with decreased alanine aminotransferase levels (beta per allele, -1.24 U per liter; 95% confidence interval [CI], -1.66 to -0.83; P = 4.8×10 -9 ) and with 33% lower odds of liver disease of any cause (odds ratio per allele, 0.67; 95% CI, 0.57 to 0.79; P = 9.9×10 -7 ).Rare coding variants in CIDEB were associated with a decreased risk of liver disease across different underlying causes and different degrees of severity, including cirrhosis of any cause (odds ratio per allele, 0.50; 95% CI, 0.36 to 0.70).Among 3599 patients who had undergone bariatric surgery, rare coding variants in CIDEB were associated with a decreased nonalcoholic fatty liver disease activity score (beta per allele in score units, -0.98; 95% CI, -1.54 to -0.41 [scores range from 0 to 8, with higher scores indicating more severe disease]).In human hepatoma cell lines challenged with oleate, CIDEB small interfering RNA knockdown prevented the buildup of large lipid droplets.
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Besides PNPLA3 p.I148M and TM6SF2 p.E167K, additional variants including common risk variants in MBOAT7, GCKR, GPAM, protective variants in HSD17B13, APOE and MTARC1, and rare variants in APOB, MTTP, CIDEB and ATG7 have been robustly associated with the risk of progressive MASLD.
“Besides PNPLA3 p.I148M and TM6SF2 p.E167K, additional variants, including common risk variants in MBOAT7 , GCKR , GPAM , protective variants in HSD17B13 , APOE and MTARC1, and rare variants ( e.g. in APOB , MTTP, CIDEB and ATG7 ), have been robustly associated with the risk of progressive MASLD. 199 -205”
From EASL-EASD-EASO Clinical Practice Guidelines on the management of metabolic dysfunction-associated steatotic liver disease (MASLD). (2024) · cites this paper as [204]
The Genetic Associations with Liver Aminotransferases and Disease section and Table 1 (page not supplied) link rare variants in CIDEB and APOB to liver-disease risk; the paper also discusses TM6SF2 and HSD17B13. It does not establish the full listed set of variants as robustly associated with progressive MASLD: some genes appear only in references, and the authors say larger studies are needed to estimate the effect of CIDEB variants on progression to advanced liver disease. (LLM, conf=0.87)
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Yield of genetic association signals from genomes, exomes and imputation in the UK Biobank
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Self-citationThe pathogenesis of hepatic steatosis in MASLD: a lipid droplet perspective
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Drug development advances in human genetics‐based targets
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Analysis of 173,303 exomes and genomes in the Pakistan Genome Resource
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Targeting CIDEB alleviates liver steatosis and fibrosis in mouse MASH models
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MASLD and the cardiovascular-kidney-liver-metabolic syndrome
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UK Biobank: Transforming drug discovery and precision medicine
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Advances in research on metabolic dysfunction-associated steatotic liver disease.
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Rare coding variants in CHRNB2 reduce the likelihood of smokingPreprint
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Pemafibrate Improves Cholestatic Markers Regardless of the Presence of Primary Biliary Cholangitis
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Unveiling the Multifaceted Role of CIDEB: From Apoptosis to Lipid Metabolism and Liver Health
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CIDEB variants protect against liver disease
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- Authors
- Verweij, N., Haas, M. E., Nielsen, J. B., Sosina, O. A., Kim, M., Akbari, P., De, T., Hindy, G., Bovijn, J., Persaud, T., Miloscio, L., Germino, M., Panagis, L., Watanabe, K., Mbatchou, J., Jones, M., LeBlanc, M., Balasubramanian, S., Lammert, C., Enhörning, S., Melander, O., Carey, D. J., Still, C. D., Mirshahi, T., Rader, D. J., Parasoglou, P., Walls, J. R., Overton, J. D., Reid, J. G., Economides, A., Cantor, M. N., Zambrowicz, B., Murphy, A. J., Abecasis, G. R., Ferreira, M. A. R., Smagris, E., Gusarova, V., Sleeman, M., Yancopoulos, G. D., Marchini, J., Kang, H. M., Karalis, K., Shuldiner, A. R., Della Gatta, G., Locke, A. E., Baras, A., & Lotta, L. A.
- Affiliations
- Regeneron (United States) (US)
- Lund University (SE)
- Skåne University Hospital (SE)
- Geisinger Medical Center (US)
- Indiana University School of Medicine (US)
- From the Regeneron Genetics Center (N.V., M.E.H., J.B.N., O.A.S., M.K., P.A., T.D., G.H., J.B., T.P., L.M., K.W., J. Mbatchou, M.J., M.L., S.B., J.D.O., J.G.R., A.E., M.N.C., G.R.A., M.A.R.F., J. Marchini, H.M.K., K.K., A.R.S., G.D.G., A.E.L., A.B., L.A.L.), Regeneron Pharmaceuticals (M.G., L.P., P.P., J.R.W., B.Z., A.J.M., E.S., V.G., M.S., G.D.Y.), Tarrytown, NY; Indiana University School of Medicine, Indianapolis (C.L.); the Department of Clinical Sciences Malmö, Lund University, and the Department of Emergency and Internal Medicine, Skåne University Hospital — both in Malmö, Sweden (S.E., O.M.); and the Department of Molecular and Functional Genomics, Geisinger Health System, Danville (D.J.C., C.D.S., T.M.), and the Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia (D.J.R.) — both in Pennsylvania.
- ORCID
- Verweij, Niek
- Haas, Mary E.
- Nielsen, Jonas B.
- Sosina, Olukayode A.
- Kim, Minhee
- Akbari, Parsa
- De, Tanima
- Hindy, George
- Bovijn, Jonas
- Persaud, Trikaldarshi
- Germino, Mary
- Watanabe, Kyoko
- Mbatchou, Joelle
- Jones, Marcus
- LeBlanc, Michelle
- Balasubramanian, Suganthi
- Lammert, Craig
- Enhörning, Sofia
- Melander, Olle
- Carey, David J.
- Still, Christopher D.
- Mirshahi, Tooraj
- Rader, Daniel J.
- Parasoglou, Prodromos
- Overton, John D.
- Reid, Jeffrey G.
- Economides, Aris
- Cantor, Michael N.
- Zambrowicz, Brian
- Murphy, Andrew J.
- Ferreira, Manuel A.R.
- Gusarova, Viktoria
- Sleeman, Mark
- Marchini, Jonathan
- Kang, Hyun M.
- Karalis, Katia
- Shuldiner, Alan R.
- Locke, Adam E.
- Baras, Aris
- Lotta, Luca A.
- Venue
- New England Journal of Medicine
- Publisher
- Massachusetts Medical Society
- Published
- 2022-07-28
- Volume
- 387
- Issue
- 4
- Pages
- 332-344
- ISSN
- 0028-4793 (ISSN-L)
- 1533-4406
- OpenAlex
- W4288050262
- Cited by
- 127
- References
- 50
- Citations by year
- 2026: 27 · 2025: 35 · 2024: 31 · 2023: 24 · 2022: 10
- FWCI
- 18.05
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Licence
- Locations
- New England Journal of Medicine (publishedVersion, other-oa)
- PubMed (publishedVersion)
- Lund University Publications (Lund University) (submittedVersion)
- Funders
- Regeneron Pharmaceuticals
- Topics
- Health Sciences › Medicine › Epidemiology › Liver Disease Diagnosis and Treatment
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Keywords
- CIDEB, liver disease, liver cirrhosis, rare coding variants, germline mutations, loss-of-function mutations, alanine aminotransferase, aminotransferase levels, non-alcoholic fatty liver disease, hepatic lipid droplets, bariatric surgery, apolipoprotein B, ABCB4, SLC30A10, TM6SF2, genetic protection
- MeSH terms
- Exome Sequencing, Transaminases, Humans, Liver, Liver Diseases, Germ-Line Mutation, Genetic Predisposition to Disease, Apoptosis Regulatory Proteins
About these checks
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.
Statistics and arithmetic are recomputed, not judged.
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What counts as a claim ›How we measure confidence ›How we check this ›
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