Common genetic variants of the FADS1 FADS2 gene cluster and their reconstructed haplotypes are associated with the fatty acid composition in phospholipids
Abstract
Fatty acid composition in membranes plays an important role in cellular processes and has shown to be associated with the aetiology of several complex diseases in humans. We report strong associations between variants in the human delta-5 and delta-6 desaturase genes FADS1 FADS2 and fatty acid composition in serum phospholipids. Eighteen polymorphisms located in this gene cluster were genotyped in 727 adults from Erfurt, a German centre of the European Community Respiratory Health Survey. The cluster is located at chromosome 11q12-11q13.1, a region repeatedly found to be linked with atopy and other complex diseases. Polymorphisms and statistically reconstructed haplotypes of FADS1 and the upstream region of FADS2 showed strongest associations with the level of the direct precursor of inflammatory eicosanoids, the n-6 fatty acid arachidonic acid (C20:4n-6), also strong associations with levels of the n-6 fatty acids C18:2n-6, C18:3n-6, C20:2n-6, C20:3n-6, C22:4n-6 and of the n-3 fatty acids C18:3n-3, C20:5n-3 and C22:5n-3 (P-values < 1.0 x 10(-13)). Carriers of the rare alleles of several SNPs and their respective haplotypes had a lower prevalence of allergic rhinitis and atopic eczema. No association was found for total and specific IgE levels.
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The ability to convert ALA into n-3 LCPUFA and the levels of n-3 LCPUFA in plasma phospholipids and red blood cells are individually related to polymorphisms in the human Δ-5 and Δ-6 desaturase genes FADS1 and FADS2.
“The ability to convert ALA into n-3 LCPUFA and the levels of n-3 LCPUFA in plasma phospholipids and red blood cells are, moreover, individually related to polymorphisms in the human Δ-5 and Δ-6 desaturase genes fatty acid desaturase 1 and 2 (FADS1 and FADS2, respectively) [12].”
From Role of n-3 long-chain polyunsaturated fatty acids in human nutrition and health: Review of recent studies and recommendations (2021) · cites this paper as [12]
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- Authors
- Schaeffer, L., Gohlke, H., Müller, M., Heid, I. M., Palmer, L. J., Kompauer, I., Demmelmair, H., Illig, T., Koletzko, B., & Heinrich, J.
- Affiliations
- Helmholtz Munich (DE)
- Institut für Medizinische Informationsverarbeitung, Biometrie und Epidemiologie (DE)
- The University of Western Australia (AU)
- Corresponding author
- Schaeffer, Linda
- Venue
- Human Molecular Genetics
- Publisher
- Oxford University Press (OUP)
- Published
- 2006-05-02
- Volume
- 15
- Issue
- 11
- Pages
- 1745-1756
- ISSN
- 0964-6906 (ISSN-L)
- 1460-2083
- OpenAlex
- W2170504439
- Cited by
- 561
- References
- 58
- Citations by year
- 2026: 10 · 2025: 15 · 2024: 11 · 2023: 16 · 2022: 26 · 2021: 32 · 2020: 24 · 2019: 36 · 2018: 25 · 2017: 21 · 2016: 27 · 2015: 24 · 2014: 40 · 2013: 41 · 2012: 33
- FWCI
- 21.11
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Human Molecular Genetics (publishedVersion)
- PubMed (publishedVersion)
- UWA Profiles and Research Repository (UWA) (submittedVersion)
- Site cant be reached (submittedVersion)
- Funders
- Boehringer Ingelheim Fonds
- Deutsche Forschungsgemeinschaft
- Bundesministerium für Bildung und Forschung
- Topics
- Health Sciences › Nursing › Nutrition and Dietetics › Fatty Acid Research and Health
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Biochemistry › Lipid metabolism and biosynthesis
- Keywords
- FADS1, FADS2, delta-5 desaturase, delta-6 desaturase, fatty acid composition, serum phospholipids, genetic polymorphism, haplotype reconstruction, arachidonic acid, omega-6 fatty acids, omega-3 fatty acids, allergic rhinitis, atopic dermatitis, IgE
- MeSH terms
- Delta-5 Fatty Acid Desaturase, Adult, Chromosomes, Human, Pair 11, Dermatitis, Atopic, Fatty Acids, Female, Multigene Family, Haplotypes, Humans, Hypersensitivity, Immunoglobulin E, Male, Middle Aged, Phospholipids, Polymorphism, Genetic, Rhinitis, Stearoyl-CoA Desaturase, Linkage Disequilibrium, Fatty Acid Desaturases
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