Positive Selection of an Indel Polymorphism in the FADS Gene Cluster May be Driving Long-Chain PUFA Biosynthetic Capacity in Specific Human Populations.
This article at a glance
- This study reports a 22-bp nucleotide insertion-deletion (indel) genetic polymorphism that may be causally related to the control of gene expression of the fatty acid desaturases, enzymes that control the biosynthesis of long-chain polyunsaturated fatty acids (LCPUFA) from 18-carbon PUFA.
- The population frequency of the indel (rs66698963) is remarkably different among human populations with the insertion being far more frequent in South Asians, Africans and some East Asian populations, and far less common in European and other East Asian populations.
- The polymorphism has a significant effect on baseline arachidonic acid levels, and on the product-precursor relationship for the omega-6 LCPUFA biosynthesis pathway. The effects on omega-3 LCPUFA homeostasis remain to be reported, but further exploration of indel frequency in populations may significantly augment our understanding of the link between diet and PUFA status in health and disease.