ArticleJournal of lipid research2009
Carnitine palmitoyltransferase IA polymorphism P479L is common in Greenland Inuit and is associated with elevated plasma apolipoprotein A-I.
Article in Journal of lipid research, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
33 citing papers in PubMed, 67 citations in OpenAlex.
- Increased missense mutation burden of Fatty Acid metabolism related genes in nunavik inuit population.PloS one · 2015Trial
- Impaired fasting tolerance among Alaska native children with a common carnitine palmitoyltransferase 1A sequence variant.Molecular genetics and metabolism · 2011Trial
- Inuit HLA variation and neuroimmune disease.Frontiers in neuroscience · 2026Review
- Long-Chain Fatty Acid Oxidation Disorder Genes: A Comprehensive Genetic Database of LC-FAOD Variants, Genotypes, and Phenotypes.Human mutation · 2026Article
- Hepatic Inactivation of Carnitine Palmitoyltransferase 1a Lowers ApoB-Containing Lipoproteins in Mice.Arteriosclerosis, thrombosis, and vascular biology · 2025Article
- Wogonin Attenuates Atherosclerosis via KLF11-Mediated Suppression of PPARα-YAP1-Driven Glycolysis and Enhancement of ABCA1/G1-Mediated Cholesterol Efflux.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2025Article
- Ethnic differences in CT derived abdominal body composition measures: a comparative retrospect pilot study between European and Inuit study population.International journal of circumpolar health · 2024Article
- The CPT1A Arctic variant: perspectives of community members and providers in two Alaska tribal health settings.Journal of community genetics · 2023Article
- Mitochondrial CPT1A: Insights into structure, function, and basis for drug development.Frontiers in pharmacology · 2023Review
- Neutrophil trafficking to the site of infection requires Cpt1a-dependent fatty acid β-oxidation.Communications biology · 2022Article
- Use of Molecular Genetic Analyses in Danish Routine Newborn Screening.International journal of neonatal screening · 2021Article
- Neonatal hypoglycemia and the CPT1A P479L variant in term newborns: A retrospective cohort study of Inuit newborns from Kivalliq Nunavut.Paediatrics & child health · 2021Article
- Association of theFrontiers in pediatrics · 2021Article
- Genetic variants for personalised management of very low carbohydrate ketogenic diets.BMJ nutrition, prevention & health · 2020Review
- Genetic study of the Arctic CPT1A variant suggests that its effect on fatty acid levels is modulated by traditional Inuit diet.European journal of human genetics : EJHG · 2020Article
- Dysregulation of metabolic pathways by carnitine palmitoyl-transferase 1 plays a key role in central nervous system disorders: experimental evidence based on animal models.Scientific reports · 2020Article
- Characterization of Exome Variants and Their Metabolic Impact in 6,716 American Indians from the Southwest US.American journal of human genetics · 2020Article
- CPT1A plays a key role in the development and treatment of multiple sclerosis and experimental autoimmune encephalomyelitis.Scientific reports · 2019Article
- The p.P479L variant in CPT1A is associated with infectious disease in a BC First Nation.Paediatrics & child health · 2019Article
- The Genetic Basis of Metabolic Disease.Cell · 2019Review
Corrections and comments
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Authors and funding
6 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Carnitine palmitoyltransferase IA, encoded by CPT1A, is a key regulator of fatty acid metabolism. Previously, a loss-of-function mutation, namely, c.1436 C-->T (p.P479L), was reported in CPT1A in the homozygous state in Canadian aboriginal male with presumed CPT1A deficiency. To determine the population frequency of this variant, we determined CPT1A p.P479L genotypes in 1111 Greenland Inuit. Associations between genotype and variation in plasma total cholesterol, triglycerides, LDL, HDL, apolipoprotein (apo) B, and apoA-I was also investigated. We found the L479 allele occurs at a high frequency in this sample (0.73), while it was completely absent in 285 nonaboriginal samples. This suggests that the original proband's symptoms were not likely due to the CPT1A p.P479L mutation because it is very common in Inuit and because symptoms suggesting CPT1A deficiency have not been reported in any carrier subsequently studied. However, CPT1A p.P479L was associated with elevated plasma HDL and apoA-I levels. The association with increased levels of HDL and apoA-I suggest that the polymorphism might protect against atherosclerosis.
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