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

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