Genetic study of the Arctic CPT1A variant suggests that its effect on fatty acid levels is modulated by traditional Inuit diet. ...

• Main Authors: Senftleber, Ninna, Jørgensen, Marit Eika, Jørsboe, Emil, Imamura, Fumiaki, Forouhi, Nita Gandhi, Larsen, Christina Lytken, Bjerregaard, Peter, Hansen, Torben, Albrechtsen, Anders
• Format: Article in Journal/Newspaper
• Language: English
• Published: Springer Science and Business Media LLC 2020
• Subjects: Acclimatization; Adult; Blood Cells; Carnitine O-Palmitoyltransferase; Diet; Fatty Acids; Female; Humans; Inuit; Male; Middle Aged; Polymorphism, Single Nucleotide; Selection, Genetic; Arctic; Greenland; inuit
• Online Access: https://dx.doi.org/10.17863/cam.54263; https://www.repository.cam.ac.uk/handle/1810/307168

Several recent studies have found signs of recent selection on the carnitine palmitoyl-transferase 1A (CPT1A) gene in the ancestors of Arctic populations likely as a result of their traditional diet. CPT1A is involved in fatty acid transportation and is known to affect circulating fatty acid profiles in Inuit as does the unique traditional diet rich in marine animals. We aimed to assess which fatty acids may have driven the selection of rs80356779, a c.1436C>T (p.(Pro479Leu)) variant in CPT1A, by analyzing a potential interaction between the variant and traditional Inuit diet. We included 3005 genome-wide genotyped individuals living in Greenland, who had blood cell membrane fatty acid levels measured. Consumption of 25 traditional food items was expressed as percentage of total energy intake. We tested for CPT1A × traditional diet interaction while taking relatedness and admixture into account. Increasing intakes of traditional diet was estimated to attenuate the effect of 479L on 20:3 omega-6 levels (p ...