Carnitine Palmitoyltransferase IA Polymorphism P479L Is Common in Greenland Inuit and Is Associated with Elevated Plasma Apolipoprotein A-I
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 pop...
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Online Access: | https://ir.lib.uwo.ca/vascularpub/15 https://doi.org/10.1194/jlr.P900001-JLR200 http://www.jlr.org/cgi/content/abstract/50/6/1223 |
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ftunivwestonta:oai:ir.lib.uwo.ca:vascularpub-1015 2023-10-01T03:56:18+02:00 Carnitine Palmitoyltransferase IA Polymorphism P479L Is Common in Greenland Inuit and Is Associated with Elevated Plasma Apolipoprotein A-I Rajakumar, Chandheeb Ban, Matthew R. Cao, Henian Young, T Kue Bjerregaard, Peter Hegele, Robert A. 2009-06-01T07:00:00Z https://ir.lib.uwo.ca/vascularpub/15 https://doi.org/10.1194/jlr.P900001-JLR200 http://www.jlr.org/cgi/content/abstract/50/6/1223 unknown Scholarship@Western https://ir.lib.uwo.ca/vascularpub/15 doi:10.1194/jlr.P900001-JLR200 http://www.jlr.org/cgi/content/abstract/50/6/1223 Robarts Vascular Research Publications Adult Alleles Amino Acid Substitution Apolipoprotein A-I Atherosclerosis Base Sequence Carnitine O-Palmitoyltransferase Cholesterol HDL DNA Primers Female Gene Frequency Genotype Greenland Humans Inuits Lipoproteins Male Middle Aged Mutation Missense Epidemiology article 2009 ftunivwestonta https://doi.org/10.1194/jlr.P900001-JLR200 2023-09-03T06:50:21Z 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. Article in Journal/Newspaper Greenland inuit inuits The University of Western Ontario: Scholarship@Western Greenland Journal of Lipid Research 50 6 1223 1228 |
institution |
Open Polar |
collection |
The University of Western Ontario: Scholarship@Western |
op_collection_id |
ftunivwestonta |
language |
unknown |
topic |
Adult Alleles Amino Acid Substitution Apolipoprotein A-I Atherosclerosis Base Sequence Carnitine O-Palmitoyltransferase Cholesterol HDL DNA Primers Female Gene Frequency Genotype Greenland Humans Inuits Lipoproteins Male Middle Aged Mutation Missense Epidemiology |
spellingShingle |
Adult Alleles Amino Acid Substitution Apolipoprotein A-I Atherosclerosis Base Sequence Carnitine O-Palmitoyltransferase Cholesterol HDL DNA Primers Female Gene Frequency Genotype Greenland Humans Inuits Lipoproteins Male Middle Aged Mutation Missense Epidemiology Rajakumar, Chandheeb Ban, Matthew R. Cao, Henian Young, T Kue Bjerregaard, Peter Hegele, Robert A. Carnitine Palmitoyltransferase IA Polymorphism P479L Is Common in Greenland Inuit and Is Associated with Elevated Plasma Apolipoprotein A-I |
topic_facet |
Adult Alleles Amino Acid Substitution Apolipoprotein A-I Atherosclerosis Base Sequence Carnitine O-Palmitoyltransferase Cholesterol HDL DNA Primers Female Gene Frequency Genotype Greenland Humans Inuits Lipoproteins Male Middle Aged Mutation Missense Epidemiology |
description |
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. |
format |
Article in Journal/Newspaper |
author |
Rajakumar, Chandheeb Ban, Matthew R. Cao, Henian Young, T Kue Bjerregaard, Peter Hegele, Robert A. |
author_facet |
Rajakumar, Chandheeb Ban, Matthew R. Cao, Henian Young, T Kue Bjerregaard, Peter Hegele, Robert A. |
author_sort |
Rajakumar, Chandheeb |
title |
Carnitine Palmitoyltransferase IA Polymorphism P479L Is Common in Greenland Inuit and Is Associated with Elevated Plasma Apolipoprotein A-I |
title_short |
Carnitine Palmitoyltransferase IA Polymorphism P479L Is Common in Greenland Inuit and Is Associated with Elevated Plasma Apolipoprotein A-I |
title_full |
Carnitine Palmitoyltransferase IA Polymorphism P479L Is Common in Greenland Inuit and Is Associated with Elevated Plasma Apolipoprotein A-I |
title_fullStr |
Carnitine Palmitoyltransferase IA Polymorphism P479L Is Common in Greenland Inuit and Is Associated with Elevated Plasma Apolipoprotein A-I |
title_full_unstemmed |
Carnitine Palmitoyltransferase IA Polymorphism P479L Is Common in Greenland Inuit and Is Associated with Elevated Plasma Apolipoprotein A-I |
title_sort |
carnitine palmitoyltransferase ia polymorphism p479l is common in greenland inuit and is associated with elevated plasma apolipoprotein a-i |
publisher |
Scholarship@Western |
publishDate |
2009 |
url |
https://ir.lib.uwo.ca/vascularpub/15 https://doi.org/10.1194/jlr.P900001-JLR200 http://www.jlr.org/cgi/content/abstract/50/6/1223 |
geographic |
Greenland |
geographic_facet |
Greenland |
genre |
Greenland inuit inuits |
genre_facet |
Greenland inuit inuits |
op_source |
Robarts Vascular Research Publications |
op_relation |
https://ir.lib.uwo.ca/vascularpub/15 doi:10.1194/jlr.P900001-JLR200 http://www.jlr.org/cgi/content/abstract/50/6/1223 |
op_doi |
https://doi.org/10.1194/jlr.P900001-JLR200 |
container_title |
Journal of Lipid Research |
container_volume |
50 |
container_issue |
6 |
container_start_page |
1223 |
op_container_end_page |
1228 |
_version_ |
1778525709847756800 |