Research Article| Volume 85, ISSUE 6, P329-333, December 2011

A case-control study between the gene polymorphisms of polyunsaturated fatty acids metabolic rate-limiting enzymes and coronary artery disease in a Chinese Han population

Published:September 14, 2011DOI:


      To investigate the association between the polymorphisms of fatty acid desaturase 1 (FADS1), fatty acid desaturase 2 (FADS2) and elongation of very long chain fatty acids like 2 (ELOVL2) gene and coronary artery disease (CAD) in a Chinese Han population. Three single nucleotide polymorphisms (SNPs) from these genes were genotyped using PCR-based restriction fragment length polymorphism analysis in 199 CAD cases and 192 controls of Han Chinese origin. rs174556 in the FADS1 gene showed allelic (P=0.002) and genotypic (P=0.030) association with the disease, while there was no disease association for the other two SNPs. The frequency of rs174556 minor allele (T) was significantly higher in the case group than the control group. The trans phase gene–gene interaction analysis showed that the combined genotype of rs174556 (T/T) and rs3756963 (T/T) was weakly associated with the disease (P=0.043). rs174556 in the FADS1 gene is very likely to be associated with CAD in the Chinese Han population.

      List of abbreviations:

      CAD (coronary artery disease), FADS1 (fatty acid desaturase 1), FADS2 (fatty acid desaturase 2), ELOVL2 (elongation of very long chain fatty acids (fen1/elo2, sur4/elo3, yeast)-like 2), PUFA (polyunsaturated fatty acids), D5D (Δ5 desaturase), D6D (Δ6 desaturase), ALA (α-linolenic acid), ARA (arachidonic acid), DHA (docosahexaenoic acid), EPA (eicosapentaenoic acid), DPA (docosapentaenoic acid), LA (linoleic acid), SNP (single nucleotide polymorphism)


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        • Rosamond W.
        • Flegal K.
        • Furie K.
        • et al.
        Heart disease and stroke statistics—2008 update—A report from the American Heart Association Statistics Committee and Stroke Statistics Subcommittee.
        Circulation. 2008; 117: E25-E146
        • Ma D.W.
        Lipid mediators in membrane rafts are important determinants of human health and disease.
        Applied Physiology, Nutrition and Metabolism. 2007; 32: 341-350
        • Albert C.M.
        • Oh K.
        • Whang W.
        • et al.
        Dietary alpha-linolenic acid intake and risk of sudden cardiac death and coronary heart disease.
        Circulation. 2005; 112: 3232-3238
        • Sun Q.
        • Ma J.
        • Campos H.
        • et al.
        A prospective study of Trans fatty acids in erythrocytes and risk of coronary heart disease.
        Circulation. 2007; 115: 1858-1865
        • Wijendran V.
        • Hayes K.C.
        Dietary n-6 and n-3 fatty acid balance and cardiovascular health.
        Annual Review of Nutrition. 2004; 24: 597-615
        • Sepulveda J.L.
        • Tanhehco Y.C.
        • Frey M.
        • et al.
        Variation in human erythrocyte membrane unsaturated fatty acids correlation with cardiovascular disease.
        Archives of Pathology and Laboratory Medicine. 2010; 134: 73-80
        • Okuyama H.
        • Fujii Y.
        • Ikemoto A.
        n-6/n-3 ratio of dietary fatty acids rather than hypercholesterolemia as the major risk factor for atherosclerosis and coronary heart disease.
        Journal of Health Science. 2000; 46: 157-177
        • Calder P.C.
        Polyunsaturated fatty acids and inflammation.
        Biochemical Society Transactions. 2005; 33: 423-427
        • Cho H.P.
        • Nakamura M.
        • Clarke S.D.
        Cloning, expression, and fatty acid regulation of the human Delta-5 desaturase.
        Journal of Biological Chemistry. 1999; 274: 37335-37339
        • Cho H.P.
        • Nakamura M.T.
        • Clarke S.D.
        Cloning, expression, and nutritional regulation of the mammalian Delta-6 desaturase.
        Journal of Biological Chemistry. 1999; 274: 471-477
        • Nakamura M.T.
        • Nara T.Y.
        Structure, function, and dietary regulation of Delta 6, Delta 5, and Delta 9 desaturases.
        Annual Review of Nutrition. 2004; 24: 345-376
        • Marquardt A.
        • Stohr H.
        • White K.
        • Weber B.H.
        CDNA cloning, genomic structure, and chromosomal localization of three members of the human fatty acid desaturase family.
        Genomics. 2000; 66: 175-183
        • Lattka E.
        • Eggers S.
        • Moeller G.
        • et al.
        A common FADS2 promoter polymorphism increases promoter activity and facilitates binding of transcription factor ELK1.
        Journal of Lipid Research. 2010; 51: 182-191
        • Moon Y.A.
        • Shah N.A.
        • Mohapatra S.
        • Warrington J.A.
        • Horton J.D.
        Identification of a mammalian long chain fatty acyl elongase regulated by sterol regulatory element-binding proteins.
        Journal of Biological Chemistry. 2001; 276: 45358-45366
        • Glaser C.
        • Heinrich J.
        • Koletzko B.
        Role of FADS1 and FADS2 polymorphisms in polyunsaturated fatty acid metabolism.
        Clinical and Experimental. 2010; 59: 993-999
        • Emken E.A.
        • Adlof R.O.
        • Gulley R.M.
        Dietary linoleic acid influences desaturation and acylation of deuterium-labeled linoleic and linolenic acids in young adult males.
        Biochimica et Biophysica Acta. 1994; 1213: 277-288
        • Di Stasi D.
        • Bernasconi R.
        • Marchioli R.
        • et al.
        Early modifications of fatty acid composition in plasma phospholipids, platelets and mononucleates of healthy volunteers after low doses of n-3 polyunsaturated fatty acids.
        European Journal of Clinical Pharmacology. 2004; 60: 183-190
        • Tanaka T.
        • Shen J.
        • Abecasis G.R.
        • et al.
        Genome-wide association study of plasma polyunsaturated fatty acids in the InCHIANTI Study.
        PLoS Genetics. 2009; 5: e1000338
        • Illig T.
        • Gieger C.
        • Zhai G.J.
        • et al.
        A genome-wide perspective of genetic variation in human metabolism.
        Nature Genetics. 2010; 42: 137-141
        • Kwak J.H.
        • Paik J.K.
        • Kim O.Y.
        • et al.
        FADS gene polymorphisms in Koreans: association with omega 6 polyunsaturated fatty acids in serum phospholipids, lipid peroxides, and coronary artery disease.
        Atherosclerosis. 2011; 214: 94-100
        • Martinelli N.
        • Girelli D.
        • Malerba G.
        • et al.
        FADS genotypes and desaturase activity estimated by the ratio of arachidonic acid to linoleic acid are associated with inflammation and coronary artery disease.
        The American Journal of Clinical Nutrition. 2008; 88: 941-949
      1. Nomenclature and criteria for diagnosis of ischemic heart disease. Report of the Joint International Society and Federation of Cardiology/World Health Organization task force on standardization of clinical nomenclature. Circulation 59 (1979) 607-609.

        • Dudbridge F.
        Likelihood-based association analysis for nuclear families and unrelated subjects with missing genotype data.
        Human Heredity. 2008; 66: 87-98
        • Malerba G.
        • Schaeffer L.
        • Xumerle L.
        • et al.
        SNPs of the FADS gene cluster are associated with polyunsaturated fatty acids in a cohort of patients with cardiovascular disease.
        Lipids. 2008; 43: 289-299
        • Schaeffer L.
        • Gohlke H.
        • Muller M.
        • et al.
        Common genetic variants of the FADS1 FADS2 gene cluster and their reconstructed haplotypes are associated with the fatty acid composition in phospholipids.
        Human Molecular Genetics. 2006; 15: 1745-1756
        • Nakayama K.
        • Bayasgalan T.
        • Tazoe F.
        • et al.
        A single nucleotide polymorphism in the FADS1/FADS2 gene is associated with plasma lipid profiles in two genetically similar Asian ethnic groups with distinctive differences in lifestyle.
        Human Genetics. 2010; 127: 685-690
        • Merino D.M.
        • Johnston H.
        • Clarke S.
        • et al.
        Polymorphisms in FADS1 and FADS2 alter desaturase activity in young Caucasian and Asian adults.
        Molecular Genetics and Metabolism. 2011; 103: 171-178
        • Mathias R.A.
        • Vergara C.
        • Gao L.
        • et al.
        FADS genetic variants and omega-6 polyunsaturated fatty acid metabolism in a homogeneous island population.
        Journal of Lipid Research. 2010; 51: 2766-2774
        • Das U.N.
        A defect in the activity of Delta(6) and Delta(5) desaturases may be a factor in the initiation and progression of atherosclerosis.
        Prostaglandins, Leukotrienes and Essential Fatty Acids. 2007; 76: 251-268
        • Simopoulos A.P.
        Genetic variants in the metabolism of omega-6 and omega-3 fatty acids: their role in the determination of nutritional requirements and chronic disease risk.
        Experimental Biology and Medicine (Maywood). 2010; 235: 785-795
        • Tvrdik P.
        • Westerberg R.
        • Silve S.
        • et al.
        Role of a new mammalian gene family in the biosynthesis of very long chain fatty acids and sphingolipids.
        Journal of Cell Biology. 2000; 149: 707-717
        • Sprecher H.
        • Luthria D.L.
        • Mohammed B.S.
        • Baykousheva S.P.
        Reevaluation of the pathways for the biosynthesis of polyunsaturated fatty acids.
        Journal of Lipid Research. 1995; 36: 2471-2477
        • Leonard A.E.
        • Pereira S.L.
        • Sprecher H.
        • Huang Y.S.
        Elongation of long-chain fatty acids.
        Progress in Lipid Research. 2004; 43: 36-54