British Journal of Nutrition

Full Papers

Nutritional Genomics

Evidence for an association between genetic variants of the fatty acid desaturase 1 fatty acid desaturase 2 (FADS1 FADS2) gene cluster and the fatty acid composition of erythrocyte membranes

Peter Rzehaka1a2 c1, Joachim Heinricha1, Norman Kloppa1, Linda Schaeffera1, Sebastian Hoffa3, Günther Wolframa4, Thomas Illiga1 and Jakob Linseisena3a5

a1 Institute of Epidemiology, Helmholtz Zentrum München, German Research Centre for Environmental Health, Neuherberg 85764, Germany

a2 Ludwig-Maximilian University Munich, IBE Chair of Epidemiology, Oberschleißheim 85758, Germany

a3 Human Nutrition and Cancer Prevention, Technical University of Munich, Freising 85350, Germany

a4 Department of Food and Nutrition, Technical University of Munich, Freising 85350, Germany

a5 Division of Cancer Epidemiology, German Cancer Research Centre, Heidelberg 69120, Germany


The present study gives further evidence for the recently found association between variants of the fatty acid desaturase 1 fatty acid desaturase 2 (FADS1 FADS2) gene cluster and PUFA in blood phospholipids and explores this association for cellular fatty acids in erythrocyte membranes. In a subgroup of adults participating in the Bavarian Nutrition Survey II, a cross-sectional population-based study conducted in Bavaria, Germany, allelic variation in three selected loci of the FADS1 FADS2 gene cluster was analysed and used for haplotype construction. Associations with plasma phospholipid PUFA (n 163) and PUFA in erythrocyte membranes (n 535) were investigated by regression analysis. All haplotypes of the original five-loci haplotypes of our previous study could be replicated. In addition, associations with serum phospholipid PUFA were confirmed in the present data set. Although less pronounced, associations between FADS1 FADS2 haplotypes and PUFA in erythrocyte membranes, particularly arachidonic and dihomo-γ-linolenic acid, could be established. We provide the first replication of the association of the FADS1 FADS2 gene cluster with PUFA in blood phospholipids. For the first time, such associations were also shown for PUFA in cell membranes.

(Received August 17 2007)

(Revised March 18 2008)

(Accepted March 19 2008)

(Online publication May 15 2008)


c1 Corresponding author: Dr Peter Rzehak, fax +49 89 3187 3380, email


Abbreviations: BVS-II, Bavarian Nutrition Survey II; ECRHS, European Community Respiratory Health Survey; FADS1, fatty acid desaturase 1; FADS2, fatty acid desaturase 2; LD, linkage disequilibrium; SNP, single nucleotide polymorphism