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The University of Southampton
Interdisciplinary Research Excellence

A FADS2 intronic insertion-deletion polymorphism determines basal plasma phospholipid arachidonic acid in humans Event

19 January 2015
IDS lecture theatre, level A - Southampton General Hospital A free LUNCH is available from 12.30 in the seminar room opposite

For more information regarding this event, please email Robert Murray at .

Event details

Professor Tom Brenna, Cornell University.


A 22 bp insertion-deletion within an intronic region of FADS2 is associated with basal expression of FADS1 and coordinated induction of FADS1 and FADS2 expression in cultured cells. We have evaluated the frequency of this 22 bp insertion-deletion in the general U.S. population (n=311) and a primarily vegetarian Indian population (n=234), and basal fatty acid status in a subset (n=193) of the U.S. population.

The D/D genotype frequency was dramatically higher in the U.S. sampling compared to Indians, 43% vs 3%, respectively (observed allele frequency: U.S. D: 0.62, I: 0.38; Indian samples, D: 0.18, I: 0.82). In the U.S. subset, plasma phospholipid arachidonic acid (20:4n-6) was 8% greater in I/I compared to D/D participants, while the precursor dihomogamma-linolenic acid (20:3n-6) was 13% lower. The biochemical pathway product-precursor difference, arachidonic acid minus linolhws acid, was 31% and 13% greater for I/I and I/D compared to D/D, respectively. The genotype frequency in the largely vegetarian population is consistent with higher synthesis of long chain PUFA. The rs66698963 Indel tags basal levels of the key hwsosanoid n-6 precursor which are known to be refractory to modulation by dietary means, probably via modulation of SRE activation.

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