AIMS

This study aims to use mass spectrometry (MS) to identify differences in metabolites between individuals who are homozygous for either the major or minor allele of FADS2. Using MS to identify metabolites will enable a snapshot of the physiological state to be captured and compared between genotypes.

HYPOTHESES

The FADS genotypes have been implicated in a range of outcomes including cardiovascular and metaboloic disease risk, neurological conditions and IQ. FADS2 is a delta 6 fatty acid desaturase involved in the synthesis of omega-6 and omega-3 fatty acids. It is thought that the enzyme from the FADS2 minor allele is less effective at producing derivatives of the fatty acid pathway and thereby there is an increase in precursors left un-metabolised. This infers that the metabolic profile will differ between FADS2 genotypes. PLS regression will be used to examine the metabolites most associated with variation in the outcome (the phenotype or genotype).

EXPOSURE VARIABLE

rs174575 FADS2 polymorphism either individuals homozygous for the major allele (CC) or homozygous for the minor allele (GG)

OUTCOME VARIABLE

Mass spectra from QStar XL QqTOF Mass spectrometer

CONFOUNDING VARIABLES

Age, gender, lean mass, fat mass. The main purpose of the project is to pilot MS methodology, additional variables may be added at a later date.