NDLI: Carnitine palmitoyltransferase IA polymorphism P479L is common in Greenland Inuit and is associated with elevated plasma apolipoprotein A-I.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Rajakumar, Chandheeb Ban, Matthew R. Cao, Henian Young, T. Kue Bjerregaard, Peter Hegele, Robert A.
Spatial Coverage	Greenland
Description	Country affiliation: Canada Author Affiliation: Rajakumar C ( Vascular Biology Research Group, Robarts Research Institute, University of Western Ontario, London, Ontario, Canada.)
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.
File Format	HTM / HTML
ISSN	00222275
e-ISSN	15397262
DOI	10.1194/jlr.P900001-JLR200
Journal	The Journal of Lipid Research
Issue Number	6
Volume Number	50
Language	English
Publisher	American Society for Biochemistry and Molecular Biology
Publisher Date	2009-06-01
Publisher Place	United States
Access Restriction	Open
Subject Keyword	Discipline Biochemistry Apolipoprotein A-i Blood Carnitine O-palmitoyltransferase Genetics Inuits Mutation, Missense Alleles Amino Acid Substitution Atherosclerosis Enzymology Prevention & Control Deficiency Cholesterol, Hdl Dna Primers Gene Frequency Genotype Greenland Lipoproteins Research Support, Non-u.s. Gov't
Content Type	Text
Resource Type	Article
Subject	Cell Biology Biochemistry Endocrinology

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Carnitine palmitoyltransferase IA polymorphism P479L is common in Greenland Inuit and is associated with elevated plasma apolipoprotein A-I

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Carnitine palmitoyltransferase IA polymorphism P479L is common in Greenland Inuit and is associated with elevated plasma apolipoprotein A-I

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Carnitine palmitoyltransferase IA polymorphism P479L is common in Greenland Inuit and is associated with elevated plasma apolipoprotein A-I.