Germline Mutations in CIDEB and Protection against Liver Disease

• Published in: The New England journal of medicine Vol. 387; no. 4; pp. 332 - 344
• Main Authors: Verweij, Niek, Haas, Mary E., Nielsen, Jonas B., Sosina, Olukayode A., Kim, Minhee, Akbari, Parsa, De, Tanima, Hindy, George, Bovijn, Jonas, Persaud, Trikaldarshi, Miloscio, Lawrence, Germino, Mary, Panagis, Lampros, 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, Walls, Johnathon R., Overton, John D., Reid, Jeffrey G., Economides, Aris, Cantor, Michael N., Zambrowicz, Brian, Murphy, Andrew J., Abecasis, Goncalo R., Ferreira, Manuel A.R., Smagris, Eriks, Gusarova, Viktoria, Sleeman, Mark, Yancopoulos, George D., Marchini, Jonathan, Kang, Hyun M., Karalis, Katia, Shuldiner, Alan R., Della Gatta, Giusy, Locke, Adam E., Baras, Aris, Lotta, Luca A.
• Format: Journal Article
• Language: English
• Published: United States Massachusetts Medical Society 28-07-2022
• Subjects: Alanine; Alanine transaminase; Algorithms; Alleles; Apoptosis Regulatory Proteins - genetics; Apoptosis Regulatory Proteins - metabolism; Association analysis; Basic Medicine; Biobanks; Cell lines; Cirrhosis; Electronic health records; Exome Sequencing; Fatty liver; Gastroenterology; Gastrointestinal surgery; Genes; Genetic analysis; Genetic diversity; Genetic Predisposition to Disease - genetics; Genetic Predisposition to Disease - prevention & control; Genetics; Genetics General; Genomes; Germ-Line Mutation; Hepatoma; Humans; Liver - metabolism; Liver cirrhosis; Liver Disease; Liver diseases; Liver Diseases - genetics; Liver Diseases - metabolism; Liver Diseases - prevention & control; Medical and Health Sciences; Medical Genetics; Medicin och hälsovetenskap; Medicinsk genetik; Medicinska och farmaceutiska grundvetenskaper; Mutation; Patients; Phenotypes; siRNA; Therapeutic targets; Transaminases - genetics; United Kingdom > UK
• ISSN: 0028-4793; 1533-4406
• DOI: 10.1056/NEJMoa2117872

Rare mutations in
CIDEB
protect against liver disease, making the gene a candidate target for treatment. Suppression of CIDEB interferes with the formation of fat droplets in cells.