ArticleThe Journal of nutrition2015
PNPLA3 I148M Variant Influences Circulating Retinol in Adults with Nonalcoholic Fatty Liver Disease or Obesity.
Article in The Journal of nutrition, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 63 papers, 1 of them a synthesis that pooled it.
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Who cites it
63 citing papers in PubMed, 1 synthesis or guideline pooled it, 114 citations in OpenAlex.
- Circulating retinol binding protein 4 levels in nonalcoholic fatty liver disease: a systematic review and meta-analysis.Lipids in health and disease · 2017Pooled it
- The PNPLA3 I148M variant is associated with transaminase elevations in type 2 diabetes patients treated with basal insulin peglispro.The pharmacogenomics journal · 2018Trial
- A Global Perspective on Metabolic Dysfunction-Associated Steatotic Liver Disease: From Molecular Mechanisms to Therapeutic Strategy Innovation.Nutrients · 2026Review
- Metabolic dysfunction associated steatotic liver disease: mechanisms, diagnosis, and management in adults.BMJ medicine · 2026Review
- Consuming your colors: carotenoid and retinol availability affects expression of color related genes in the mimic poison frog (Ranitomeya imitator).BMC genomics · 2025Article
- High-Risk PNPLA3 rs738409 Genotype Is Associated with Higher Concentrations of CCL2 in Liver Transplant Candidates with Alcoholic End-Stage Liver Disease.Medicina (Kaunas, Lithuania) · 2025Article
- Article
- Genetic Risk Factors for Metabolic Dysfunction-Associated Steatotic Liver Disease.Gut and liver · 2025Review
- Retinoic Acid Signaling in Fatty Liver Disease.Liver research (Beijing, China) · 2023Article
- MAFLD: a multisystem disease.Therapeutic advances in endocrinology and metabolism · 2023Review
- The I148MFrontiers in nutrition · 2023Article
- Review article: the role of HSD17B13 on global epidemiology, natural history, pathogenesis and treatment of NAFLD.Alimentary pharmacology & therapeutics · 2023Review
- PNPLA3 rs738409 and risk of fibrosis in NAFLD: Exploring mediation pathways through intermediate histological features.Hepatology (Baltimore, Md.) · 2022Article
- Genetic Aspects of Micronutrients Important for Inflammatory Bowel Disease.Life (Basel, Switzerland) · 2022Review
- Impact of a Loss-of-Function Variant inInternational journal of molecular sciences · 2022Article
- Quantitative modeling of human liver reveals dysregulation of glycosphingolipid pathways in nonalcoholic fatty liver disease.iScience · 2022Article
- PNPLA3 and TM6SF2 genetic variants and hepatic fibrosis and cirrhosis in Pakistani chronic hepatitis C patients: a genetic association study.BMC gastroenterology · 2022Article
- Genetic Factors Associated with Response to Vitamin E Treatment in NAFLD.Antioxidants (Basel, Switzerland) · 2022Review
- KIAA1363 affects retinyl ester turnover in cultured murine and human hepatic stellate cells.Journal of lipid research · 2022Article
- Genetic Variations of Vitamin A-Absorption and Storage-Related Genes, and Their Potential Contribution to Vitamin A Deficiency Risks Among Different Ethnic Groups.Frontiers in nutrition · 2022Review
3 more citing papers are in PubMed but not listed here.
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Authors and funding
9 authors at 5 institutions in 3 countries.
Funding
Abstract
backgroundRetinol is a lipid-soluble essential nutrient that is stored as retinyl esters in lipid droplets of hepatic stellate cells. Patatin-like phospholipase domain-containing 3 (PNPLA3), through its retinyl-palmitate lipase activity, releases retinol from lipid droplets in hepatic stellate cells in vitro and ex vivo. We have shown that the genetic variant I148M (rs738409) reduces the PNPLA3 retinyl-palmitate lipase activity.
objectiveThe aim of the present genetic association study was to test whether overweight/obese carriers of the PNPLA3 148M mutant allele had lower circulating concentrations of retinol than individuals who are homozygous for the 148I allele.
methodsPNPLA3 I148M (rs738409) was genotyped by Taqman assay in 76 overweight/obese individuals [BMI (kg/m(2)) ≥25; mean ± SD age: 59.7 ± 11.4 y; male gender: 70%] with a histologic diagnosis of nonalcoholic fatty liver disease (NAFLD; namely the Milan NAFLD cohort) and in 413 obese men (BMI ≥30; mean ± SD age: 57.1 ± 4.9 y) from the α-Tocopherol, β-Carotene Cancer Prevention (ATBC) Study. Serum concentrations of retinol and α-tocopherol were measured by HPLC in both cohorts. β-Carotene concentrations in the ATBC study were measured by using HPLC.
resultsThe PNPLA3 148M mutant allele was associated with lower fasting circulating concentrations of retinol (β = -0.289, P = 0.03) in adults with NAFLD (Milan NAFLD cohort). The PNPLA3 148M mutant allele was also associated with lower fasting circulating concentrations of retinol in adults with a BMI ≥30 (ATBC study; β = -0.043, P = 0.04).
conclusionWe showed for the first time, to our knowledge, that carriers of the PNPLA3 148M allele with either fatty liver plus obesity or obesity alone have lower fasting circulating retinol concentrations.
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