Journal Article

SNPs of the FADS Gene Cluster are Associated with Polyunsaturated Fatty Acids in a Cohort of Patients with Cardiovascular Disease

Schaeffer, Linda, Martinelli, Nicola, Xumerle, Luciano, Biscuola, Michele, Pignatti, Pier Franco, Olivieri, Oliviero, Trabetti, Elisabetta, Cavallari, Ugo, Illig, Thomas, Guarini, Patrizia, Corrocher, Roberto, Girelli, Domenico, Heinrich, Joachim, Galavotti, Roberta, Malerba, Giovanni, Klopp, Norman

2008

Overview

Polymorphisms of the human Δ-5 ( FADS1 ) and Δ-6 ( FADS2 ) desaturase genes have been recently described to be associated with the level of several long-chain n-3 and n-6 polyunsaturated fatty acids (PUFAs) in serum phospholipids. We have genotyped 13 single nucleotide polymorphisms (SNPs) located on the FADS1 – FADS2 – FADS3 gene cluster (chromosome 11q12–13.1) in 658 Italian adults (78% males; mean age 59.7 ± 11.1 years) participating in the Verona Heart Project. Polymorphisms and statistically inferred haplotypes showed a strong association with arachidonic acid (C20:4n-6) levels in serum phospholipids and in erythrocyte cell membranes (rs174545 adjusted P value for multiple tests, P  < 0.0001 and P  < 0.0001, respectively). Other significant associations were observed for linoleic (C18:2n-6), alpha-linolenic (C18:3n-3) and eicosadienoic (C20:2n-6) acids. Minor allele homozygotes and heterozygotes were associated to higher levels of linoleic, alpha-linolenic, eicosadienoic and lower levels of arachidonic acid. No significant association was observed for stearidonic (C18:4n-3), eicosapentaenoic (C20:5n-3) and docosahexaenoic (C22:6n-3) acids levels. The observed strong association of FADS gene polymorphisms with the levels of arachidonic acid, which is a precursor of molecules involved in inflammation and immunity processes, suggests that SNPs of the FADS 1 and FADS 2 gene region are worth studying in diseases related to inflammatory conditions or alterations in the concentration of PUFAs.

• Publisher: Springer-Verlag,Springer‐Verlag,John Wiley & Sons, Inc
• Subject: Aged / Arachidonic Acid / Arachidonic Acid - blood / Biomedical and Life Sciences / blood / Cardiovascular diseases / Cardiovascular Diseases - genetics / Cell Membrane / Cell Membrane - metabolism / Cohort Studies / fatty acid composition / Fatty Acid Desaturases / Fatty Acid Desaturases - genetics / Fatty acid metabolism / Fatty acids / Fatty Acids, Unsaturated / Fatty Acids, Unsaturated - blood / Female / Genetics / Haplotypes / human health / Humans / Italy / Life Sciences / Linoleoyl-CoA Desaturase / Linoleoyl-CoA Desaturase - genetics / lipid content / lipid metabolism / Lipidology / long chain fatty acids / Male / Medical Biochemistry / Medicinal Chemistry / Metabolism / Microbial Genetics and Genomics / Middle Aged / Miscellaneous desaturases / Multigene Family / Neurochemistry / Nutrition / n‐6/n‐3 fatty acids / omega-3 fatty acids / omega-6 fatty acids / Original Article / Polymorphism, Single Nucleotide / Polyunsaturated fatty acids / single nucleotide polymorphism / Specific lipids / stearoyl-CoA desaturase