ArticleJournal of clinical lipidology
Interrogation of selected genes influencing serum LDL-Cholesterol levels in patients with well characterized NAFLD.
Article in Journal of clinical lipidology. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed, 13 citations in OpenAlex.
- Evaluation of Pathogenic Variants Associated With Monogenic Disorders of Dyslipidemia in Patients With Well Characterised MASLD.Liver international : official journal of the International Association for the Study of the Liver · 2026Article
- Clinical Outcomes of an ApoE Genotype-Guided Lipid-Lowering Strategy in Acute Coronary Syndrome Patients Undergoing Percutaneous Coronary Intervention.Pharmacogenomics and personalized medicine · 2026Article
- Pathological features of non-alcoholic steatohepatitis in a pediatric patient with heterozygous familial hypobetalipoproteinemia: A case report.World journal of hepatology · 2025Article
- Current Diagnosis and Management of Familial Hypobetalipoproteinemia 1.Journal of atherosclerosis and thrombosis · 2024Review
- Low LDL Cholesterol Is Not an Independent Risk Factor for Hepatic Steatosis.Digestive diseases and sciences · 2023Article
- Non-alcoholic fatty liver disease in a pediatric patient with heterozygous familial hypobetalipoproteinemia due to a novelFrontiers in medicine · 2023Article
- Emerging Insights on the Diverse Roles of Proprotein Convertase Subtilisin/Kexin Type 9 (PCSK9) in Chronic Liver Diseases: Cholesterol Metabolism and Beyond.International journal of molecular sciences · 2022Review
- Pathophysiological Mechanisms in Non-Alcoholic Fatty Liver Disease: From Drivers to Targets.Biomedicines · 2021Review
- Target Deconvolution of Fenofibrate in Nonalcoholic Fatty Liver Disease Using Bioinformatics Analysis.BioMed research international · 2021Article
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Authors and funding
6 authors at 2 institutions in 2 countries.
Funding
Abstract
backgroundThe clinical significance of rare mutations in LDL metabolism genes on nonalcoholic fatty liver disease (NAFLD) severity is not well understood.
objectiveTo examine the significance of mutations in LDL metabolism genes including apolipoprotein B (APOB), proprotein convertase subtilisin kexin 9 (PCSK9) and LDL receptor (LDLR) in patients with NAFLD.
methodsPatients with biopsy-confirmed NAFLD from the NASH Clinical Research Network studies were stratified into 3 groups of LDL-C (≤50 mg/dL, 130-150 mg/dL, ≥ 190 mg/dL) and then 120 (40 per group) were randomly selected from the strata. We examined the presence of mutations on LDL genes and analyzed its association with selected NAFLD-related features. Multivariable analyses were adjusted for age, race, gender and use of statins.
resultsAmong 40 patients with LDL-C ≤ 50 mg/dL, 7 (18%) patients had heterozygous variants in APOB and 2 had heterozygous variants in PCSK9 (5%). We also found heterozygous mutations in 3 (8%) patients with LDL-C ≥ 190 mg/dL; 2 and 1 located in LDLR and APOE genes, respectively. Compared to wild-type controls with LDL-C ≤ 50, APOB carriers displayed higher levels of alanine aminotransferase (85.86 ± 35.14 U/L vs 45.61 ± 20.84 U/L, Adj. P = 0.002) and steatosis >66% (57% vs 24%, Adj. P = 0.050). These associations remained statistically significant after excluding statin users. Other histological features of NAFLD severity were not different between wild-type controls and APOB mutation carriers.
conclusionMutations in the APOB gene are common among NAFLD patients with very low LDL-C and may be associated with increased aminotransferase levels and steatosis severity.
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