ArticleArteriosclerosis, thrombosis, and vascular biology2013
A novel APOB mutation identified by exome sequencing cosegregates with steatosis, liver cancer, and hypocholesterolemia.
Article in Arteriosclerosis, thrombosis, and vascular biology, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 48 papers.
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Who cites it
48 citing papers in PubMed, 78 citations in OpenAlex.
- Hypocholesterolemia in liver and cardiovascular disease: Friend or foe?Journal of internal medicine · 2026Review
- Dyslipidaemia and hepatic steatosis: mechanisms and implications for lipid-lowering therapy.Nature reviews. Cardiology · 2026Review
- Genetic variants underlying precancerous conditions of hepatocellular carcinoma.International journal of cancer · 2026Review
- Current and Emerging Issues in Familial Hypobetalipoproteinemia-related Steatotic Liver Diseases.Journal of clinical and translational hepatology · 2025Review
- Impaired ApoB secretion triggers enhanced secretion of ApoE to maintain triglyceride homeostasis in hepatoma cells.Journal of lipid research · 2025Article
- Trans-ancestral rare variant association study with machine learning-based phenotyping for metabolic dysfunction-associated steatotic liver disease.Genome biology · 2025Article
- Unraveling Metabolic Dysfunction-Associated Steatotic Liver Disease Through the Use of Omics Technologies.International journal of molecular sciences · 2025Review
- Exploring the Role of Bempedoic Acid in Metabolic Dysfunction Associated Steatotic Liver Disease: Actual Evidence and Future Perspectives.International journal of molecular sciences · 2024Review
- Impaired Hepatic Very Low-Density Lipoprotein Secretion Promotes Tumorigenesis and Is Accelerated with Fabp1 Deletion.The American journal of pathology · 2024Article
- Cardiometabolic risk factors in MASLD patients with HCC: the other side of the coin.Frontiers in endocrinology · 2024Review
- Gene Variants Implicated in Steatotic Liver Disease: Opportunities for Diagnostics and Therapeutics.Biomedicines · 2023Review
- Effects of Early Life Oral Arsenic Exposure on Intestinal Tract Development and Lipid Homeostasis in Neonatal Mice: Implications for NAFLD Development.Environmental health perspectives · 2023Article
- Low LDL Cholesterol Is Not an Independent Risk Factor for Hepatic Steatosis.Digestive diseases and sciences · 2023Article
- Genomic analysis of lean individuals with NAFLD identifies monogenic disorders in a prospective cohort study.JHEP reports : innovation in hepatology · 2023Article
- Non-alcoholic fatty liver disease in a pediatric patient with heterozygous familial hypobetalipoproteinemia due to a novelFrontiers in medicine · 2023Article
- Potential biomarkers and immune characteristics of small bowel adenocarcinoma.Scientific reports · 2022Article
- NAFLD: Mechanisms, Treatments, and Biomarkers.Biomolecules · 2022Review
- Liver Steatosis: A Marker of Metabolic Risk in Children.International journal of molecular sciences · 2022Review
- Role of Cholesterol-Associated Steatohepatitis in the Development of NASH.Hepatology communications · 2022Review
- Machine learning enables new insights into genetic contributions to liver fat accumulation.Cell genomics · 2021Article
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Authors and funding
10 authors at 3 institutions in 2 countries.
Funding
Abstract
objectiveIn familial hypobetalipoproteinemia, fatty liver is a characteristic feature, and there are several reports of associated cirrhosis and hepatocarcinoma. We investigated a large kindred in which low-density lipoprotein cholesterol, fatty liver, and hepatocarcinoma displayed an autosomal dominant pattern of inheritance. APPROACH AND
resultsThe proband was a 25-year-old female with low plasma cholesterol and hepatic steatosis. Low plasma levels of total cholesterol and fatty liver were observed in 10 more family members; 1 member was affected by liver cirrhosis, and 4 more subjects died of either hepatocarcinoma or carcinoma on cirrhosis. To identify the causal mutation in this family, we performed exome sequencing in 2 participants with hypocholesterolemia and fatty liver. Approximately 22 400 single nucleotide variants were identified in each sample. After variant filtering, 300 novel shared variants remained. A nonsense variant, p.K2240X, attributable to an A>T mutation in exon 26 of APOB (c.6718A>T) was identified, and this variant was confirmed by Sanger sequencing. The gentotypic analysis of 16 family members in total showed that this mutation segregated with the low cholesterol trait. In addition, genotyping of the PNPLA3 p.I148M did not show significant frequency differences between carriers and noncarriers of the c.6718A>T APOB gene mutation.
conclusionsWe used exome sequencing to discover a novel nonsense mutation in exon 26 of APOB (p.K2240X) responsible for low cholesterol and fatty liver in a large kindred. This mutation may also be responsible for cirrhosis and liver cancer in this family.
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