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Background  Nunavik Inuit (northern Quebec, Canada) reside along the arctic coastline where for generations their daily energy intake has mainly been derived from animal fat. Given this particular diet it has been hypothesized that natural selection would lead to population specific allele frequency differences and unique variants in genes related to fatty acid metabolism. A group of genes, namely  CPT1A ,  CPT1B ,  CPT1C ,  CPT2 ,  CRAT  and  CROT , encode for three carnitine acyltransferases that are important for the oxidation of fatty acids, a critical step in their metabolism.    Methods  Exome sequencing and SNP array genotyping were used to examine the genetic variations in the six genes encoding for the carnitine acyltransferases in 113 Nunavik Inuit individuals.    Results  Altogether ten missense variants were found in genes  CPT1A ,  CPT1B ,  CPT1C ,  CPT2  and  CRAT , including three novel variants and one Inuit specific variant  CPT1A  p.P479L (rs80356779). The latter has the highest frequency (0.955) compared to other Inuit populations. We found that by comparison to Asians or Europeans, the Nunavik Inuit have an increased mutation burden in  CPT1A ,  CPT2  and  CRAT ; there is also a high level of population differentiation based on carnitine acyltransferase gene variations between Nunavik Inuit and Asians.    Conclusion  The increased number and frequency of deleterious variants in these fatty acid metabolism genes in Nunavik Inuit may be the result of genetic adaptation to their diet and/or the extremely cold climate. In addition, the identification of these variants may help to understand some of the specific health risks of Nunavik Inuit.

Increased Missense Mutation Burden of Fatty Acid Metabolism Related Genes in Nunavik Inuit Population