Germline Mutations in CIDEB and Protection against Liver Disease

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.·2022·New England Journal of Medicine
DOI 10.1056/nejmoa2117872

Cited by (127)

Items 101–127 of 127

  1. Healthy lifestyle? or just the right genetic mutations
    Alessio Butera, Ivano Amelio · 2023 · Cell Cycle
  2. Damaging mutations in LXRα uncouple lipogenesis from hepatotoxicity and implicate hepatic cholesterol sensing in human liver health
    Sam M. Lockhart, Milan Mušo, Ilona Zvetkova, Brian Lam, Alessandra Ferrari, Erik Schoenmakers, Katie Duckett, Jack Leslie, Beatriz Romartínez-Alonso, John A. Tadross et al. · 2024 · bioRxiv (Cold Spring Harbor Laboratory)
  3. Convergent evolution of somatic escape variants in SERPINA1 in the liver in alpha-1 anti-trypsin deficiency
    Natalia Brzozowska, Lily Wu, Vera Khodzhaeva, William James Griffiths, Adam Duckworth, Hyunchul Jung, Tim H. H. Coorens, Yvette E. Hooks, Joseph E. Chambers, Peter J Campbell et al. · 2024 · bioRxiv (Cold Spring Harbor Laboratory)
  4. Identification of genes conferring individual-level variation responsible for metabolic dysfunction-associated steatohepatitis using single-cell eQTL analysis
    Sung Eun Hong, Seon Ju Mun, Young Ju Lee, Taekyeong Yoo, Kyung‐Suk Suh, Keon Wook Kang, Myung Jin Son, Won Shik Kim, Murim Choi · 2024 · bioRxiv (Cold Spring Harbor Laboratory)
  5. Genome-wide association study of thyroid-stimulating hormone highlights new genes, pathways and associations with thyroid disease susceptibility and age-of-onset
    Alexander T. Williams, Jing Chen, Kayesha Coley, Chiara Batini, Abril G. Izquierdo, Richard J. Packer, Erik Abner, David J. Shepherd, Robert C. Free, Edward J. Hollox et al. · 2022 · medRxiv
  6. CIDEB Gene Mutation and Non Alcoholic Fatty Liver Disease: The Potential Role of Oleic Acid
    2022 · International Journal of Clinical and Medical Education Research
  7. Transforming Genes to Protect Against Liver Disease: Will siRNA-based Therapeutics Reduce the Need for Liver Transplantation?
    Karen M. J. Waller, David Geoffrey Bowen, Simone Irene Strasser · 2023 · Transplantation
  8. Towards omics-based risk assessment in NAFLD
    Veeral H. Ajmera · 2023 · Nature Metabolism
  9. Prioritization of potential drug targets in ovarian-related diseases: Mendelian randomization and colocalization analyses
    Yanggang Hong · 2025 · F&S Science
  10. CIDEC is most closely associated with fat storage in human adipose tissue among CIDE family isoforms in severely obese subjects: a cross-sectional study
    Yasuyuki Iwahashi, Seiji Nishikage, Yusei Hosokawa, Tomoko Yamada, Yasushi Nakagawa, Yushi Hirota, Kazuhiko Sakaguchi, Yuki Nishimoto, Shinsuke Nakajima, Seiichi Kitahama et al. · 2025 · Diabetology International
  11. Hepatocyte-specific CLSTN3B ablation impairs lipid droplet maturation and alleviates diet-induced steatohepatitis in mice
    Chuanhai Zhang, Dengbao Yang, Hiroyuki Suzuki, Jingxuan Chen, Jingjing Wang, Mengchen Ye, Jin Zhou, Qiyu Zeng, Meijuan Bai, Mei-Jung Lin et al. · 2025 · bioRxiv (Cold Spring Harbor Laboratory)
  12. A dominant CIDEC variant segregates with familial obesity by increasing lipid droplet size in adipocytes
    Franziska Paul, Hui Wang, Jianqin Wang, Liang Juin Tan, Crystal Y. Chia, Li Sun, Hui Jen Goh, Mark Kelly, Suresh Anand Sadananthan, Gunaseelan Narayanan et al. · 2025 · medRxiv
  13. Genome‐wide association analysis identifies fucosyltransferase 2 variants associated with pancreatic intraductal papillary mucinous neoplasms
    Apostolos Gaitanidis, Carlos F. Fernandez-del Castillo, Shravya Srinivas Rao, Avinash R. Kambadakone, Mari A. Mino-Kenudson, Brenna W. Casey, Andrew Louis Warshaw, Alison P. Klein, William Robert Brugge, Keith D. Lillemoe et al. · 2025 · Cancer
  14. The association of race with time to severe liver disease diagnoses
    Andrew D. Schreiner, Jingwen Zhang, Mulugeta Gebregziabher, Justin E. Marsden, Patrick D. Mauldin, Don C. Rockey · 2025 · PLoS ONE
  15. Multi-ancestry genome-wide association meta-analysis of hepatocellular carcinoma identifies eight novel risk genes including MYC , MAP3K9 , DHRS1 , and MTTP
    Ifechukwuamaka Chinaka, Annabelle Schofield, Christopher Amos, R Lewis, Vincent Lingzhi Chen, Younghun Han, Manal Ewaiss Hassan, S Shetty, Jake Peter Mann · 2025 · medRxiv
  16. Interorganelle competition for linoleic acid underlies steatotic liver pathology
    Chuanhai Zhang, Dengbao Yang, Hiroyuki Suzuki, Goncalo DiasdoVale, Jingxuan Chen, Amogh Vaidya, Kamran Melikov, Alexandra E. Swisher, Jingjing Wang, Mengchen Ye et al. · 2026 · bioRxiv (Cold Spring Harbor Laboratory)
  17. Macrophage-specific N-terminal truncation of Plin2 limits the size of lipid droplets
    Yaru Tian, Xiaolong Huang, Yuanyuan Wei · 2026 · Biochemical Journal
  18. Genetic modulators of metabolic dysfunction-associated steatotic liver disease (MASLD) and their epistatic interactions: from in vitro and animal models to clinical outcomes
    Fernanda Guadalupe Arriaga-González, Felipe de Jesús Castañeda-Córdova, Mauricio Díaz‐Muñoz, Matthew Hoare, D. Adams, Carla Daniela Robles‐Espinoza, Christian Molina‐Aguilar · 2026 · BMC Medical Genomics
  19. Genome sequencing and Big Data analysis
    David J. Carey, Diane T. Smelser · 2026 · Elsevier eBooks
  20. Colocalization and discordance between plasma and brain protein quantitative trait loci
    Yanzhen Cheng, Wenmin Zhang, Tianyuan Lu · 2026 · bioRxiv (Cold Spring Harbor Laboratory)
  21. Genetic testing in liver diseases: Clinical applications
    Verena Keitel, Anne Mentzinger, Carola Dröge, Sílvia Vilarinho · 2026 · JHEP Reports
  22. Multi-ancestry genome-wide association meta-analysis of hepatocellular carcinoma identifies 15 risk loci including MAP3K9, DHRS1, MTTP, and 8q24.21
    Ifechukwuamaka Chinaka, Annabelle Schofield, Christopher I. Amos, Lewis Rowland Roberts, Vincent Lingzhi Chen, Younghun Han, Manal Hassan, Shishir Shetty, Jake Peter Mann · 2026 · Human Genetics and Genomics Advances
  23. Loss of Ambp ameliorates steatosis progression by activating PPARα signaling in zebrafish
    Lei Zhou, Jie Cheng, Mei Wu, Miaozhen Tu, Yuying Zheng, Guozhu Ning, Jiaxing Li, Liang Zhang, Jingjing Zhang · 2026 · FEBS Journal
  24. Functional splice site variants in AVPR1A protect against idiopathic hyperaldosteronism
    Jinbo Hu, Zhipeng Wu, Wenjin Luo, Hang Shen, Tracy Ann Williams, Qinglian Zeng, Linqiang Ma, Xiangjun Chen, Chuan Peng, Zhihao Chen et al. · 2026 · Genes & Diseases
  25. Beyond Fat: Reframing MASLD Through Genetics, Clonal Biology, and Precision Hepatology
    Javier Crespo, Marta Alonso‐Peña, Carolina Jiménez-González, Lorena Cayon, Paula Iruzubieta · 2026 · Pharmaceuticals
  26. Causal relationship between liver fat reduction and clinical outcomes in human genetic studies and randomized clinical trials of metabolic-dysfunction associated steatohepatitis
    Niek Verweij, George Hindy, Quang Nguyen, Olukayode Ayodeji Sosina, Kusha A Mohammadi, Tejasv Bedi, Joseph Herman, Karl Landheer, Benjamin J. Geraghty, Selin Somersan-Karakaya et al. · 2026 · medRxiv
  27. BindingDB Entry 50023824: Discovery of Highly Potent, Selective, and Liver-Targeting HSD17B13 Inhibitor with Robust In Vivo Anti-MASH Activity.
    BindingDB · 2026 · UC San Diego