Associations between polymorphisms in genes involved in fatty acid metabolism and dietary fat intakes

Journal of Nutrigenetics and Nutrigenomics

Volumn 5, Issue 1, 2012, Pages 1-12

  Bouchard Mercier, Annie ^a,b   Paradis, Ann Marie ^a,b   Prusse, Louis ^a,b   Vohl, Marie Claude ^a,b  

^a LAVAL UNIVERSITY   (Canada)

^b UNIVERSITÉ LAVAL   (Canada)

Author keywords

Appetite regulation; Dietary fat intakes; FASN; Polymorphisms; PPAR ; PPAR ; PPAR ; PPARGC1 ; SREBF1

Indexed keywords

FATTY ACID SYNTHASE; MONOUNSATURATED FATTY ACID; PEROXISOME PROLIFERATOR ACTIVATED RECEPTOR ALPHA; PEROXISOME PROLIFERATOR ACTIVATED RECEPTOR DELTA; PEROXISOME PROLIFERATOR ACTIVATED RECEPTOR GAMMA; PEROXISOME PROLIFERATOR ACTIVATED RECEPTOR GAMMA COACTIVATOR 1ALPHA; POLYUNSATURATED FATTY ACID; SATURATED FATTY ACID; STEROL REGULATORY ELEMENT BINDING PROTEIN 1;

ADULT; ALLELE; ARTICLE; CORRELATION ANALYSIS; DIETARY INTAKE; FAT INTAKE; FATTY ACID METABOLISM; FEMALE; GENETIC POLYMORPHISM; GENETIC VARIABILITY; GENOTYPE; HERITABILITY; HETEROZYGOTE; HUMAN; MAJOR CLINICAL STUDY; MALE; OBESITY; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; QUESTIONNAIRE; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SINGLE NUCLEOTIDE POLYMORPHISM;

ADULT; DIETARY FATS; FATTY ACIDS; FEMALE; HUMANS; MALE; MIDDLE AGED; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; POLYMORPHISM, SINGLE NUCLEOTIDE; QUEBEC; QUESTIONNAIRES; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION;

EID: 84857935413     PISSN: 16616499     EISSN: 16616758     Source Type: Journal    
DOI: 10.1159/000336511     Document Type: Article

References (82)

1. Statistique Canada: L'obésité chez les adultes au Canada. 2008. http://www.statcan.gc.ca/pub/82-620-m/2005001/ article/adults-adultes/ 8060-fra.htm#1.
2. Wyatt SB, Winters KP, Dubbert PM: Overweight and obesity: prevalence, consequences, and causes of a growing public health problem. Am J Med Sci 2006; 331: 166-174.
3. Bell CG, Walley AJ, Froguel P: The genetics of human obesity. Nat Rev Genet 2005; 6: 221-234.
4. Melanson EL, Astrup A, Donahoo WT: The relationship between dietary fat and fatty acid intake and body weight, diabetes, and the metabolic syndrome. Ann Nutr Metab 2009; 55: 229-243.
5. Elmadfa I, Kornsteiner M: Fats and fatty acid requirements for adults. Ann Nutr Metab 2009; 55: 56-75.
6. Choquette AC, Lemieux S, Tremblay A, Chagnon YC, Bouchard C, Vohl MC, et al: Evidence of a quantitative trait locus for energy and macronutrient intakes on chromosome 3q27.3: the Quebec Family Study. Am J Clin Nutr 2008; 88: 1142-1148.
7. Hasselbalch AL, Heitmann BL, Kyvik KO, Sorensen TI: Studies of twins indicate that genetics influence dietary intake. J Nutr 2008; 138: 2406-2412.
8. Hur YM, Bouchard TJ Jr, Eckert E: Genetic and environmental influences on self-reported diet: a reared-apart twin study. Physiol Behav 1998; 64: 629-636.
9. van BM, van Nieuwenhoven FA: PPARs as therapeutic targets in cardiovascular disease. Expert Opin Ther Targets 2010; 14: 1029-1045.
10. Evans RM, Barish GD, Wang YX: PPARs and the complex journey to obesity. Nat Med 2004; 10: 355-361.
11. Hihi AK, Michalik L, Wahli W: PPARs: transcriptional effectors of fatty acids and their derivatives. Cell Mol Life Sci 2002; 59: 790-798.
12. Xu HE, Lambert MH, Montana VG, Parks DJ, Blanchard SG, Brown PJ, et al: Molecular recognition of fatty acids by peroxisome proliferator-activated receptors. Mol Cell 1999; 3: 397-403.
13. Fernandez-Alvarez A, Alvarez MS, Gonzalez R, Cucarella C, Muntane J, Casado M: Human SREBP1c expression in liver is directly regulated by peroxisome proliferator-activated receptor alpha (PPARalpha). J Biol Chem 2011; 286: 21466-21477.
14. Duval C, Muller M, Kersten S: PPARalpha and dyslipidemia. Biochim Biophys Acta 2007; 1771: 961-971.
15. Schwartz GJ, Fu J, Astarita G, Li X, Gaetani S, Campolongo P, et al: The lipid messenger OEA links dietary fat intake to satiety. Cell Metab 2008; 8: 281-288.
16. Fu J, DiPatrizio NV, Guijarro A, Schwartz GJ, Li X, Gaetani S, et al: Sympathetic activity controls fat-induced oleoylethanolamide signaling in small intestine. J Neurosci 2011; 31: 5730-5736.
17. Vohl MC, Lepage P, Gaudet D, Brewer CG, Betard C, Perron P, et al: Molecular scanning of the human PPAR gene: association of the L162v mutation with hyperapobetalipoproteinemia. J Lipid Res 2000; 41: 945-952.
18. Rudkowska I, Caron-Dorval D, Verreault M, Couture P, Deshaies Y, Barbier O, et al: PPARalpha L162V polymorphism alters the potential of n-3 fatty acids to increase lipoprotein lipase activity. Mol Nutr Food Res 2010; 54: 543-550.
19. Robitaille J, Brouillette C, Houde A, Lemieux S, Perusse L, Tchernof A, et al: Association between the PPARalpha- L162V polymorphism and components of the metabolic syndrome. J Hum Genet 2004; 49: 482-489.
20. Tontonoz P, Hu E, Graves RA, Budavari AI, Spiegelman BM: mPPAR gamma 2: tissue-specific regulator of an adipocyte enhancer. Genes Dev 1994; 8: 1224-1234.
21. Masugi J, Tamori Y, Mori H, Koike T, Kasuga M: Inhibitory effect of a proline-to-alanine substitution at codon 12 of peroxisome proliferator-activated receptor-gamma 2 on thiazolidinedione-induced adipogenesis. Biochem Biophys Res Commun 2000; 268: 178-182.
22. Deeb SS, Fajas L, Nemoto M, Pihlajamaki J, Mykkanen L, Kuusisto J, et al: A Pro12Ala substitution in PPARgamma2 associated with decreased receptor activity, lower body mass index and improved insulin sensitivity. Nat Genet 1998; 20: 284-287.
23. Lu M, Sarruf DA, Talukdar S, Sharma S, Li P, Bandyopadhyay G, et al: Brain PPAR-gamma promotes obesity and is required for the insulin-sensitizing effect of thiazolidinediones. Nat Med 2011; 17: 618-622.
24. Perreault M, Will S, Panza D, Gareski T, Harding K, Kubasiak D, et al: Modulation of nutrient sensing nuclear hormone receptors promotes weight loss through appetite suppression in mice. Diabetes Obes Metab 2010; 12: 234-245.
25. Barish GD, Narkar VA, Evans RM: PPAR delta: a dagger in the heart of the metabolic syndrome. J Clin Invest 2006; 116: 590-597.
26. Harrington WW, Britt S, Wilson G, Milliken O, Binz G, Lobe C, et al: The Effect of PPARalpha, PPARdelta, PPARgamma, and PPARpan Agonists on Body Weight, Body Mass, and Serum Lipid Profiles in Diet-Induced Obese AKR/J Mice. PPAR Res 2007; 2007: 97125.
27. Skogsberg J, Kannisto K, Cassel TN, Hamsten A, Eriksson P, Ehrenborg E: Evidence that peroxisome proliferatoractivated receptor delta influences cholesterol metabolism in men. Arterioscler Thromb Vasc Biol 2003; 23: 637-643.
28. Puigserver P, Spiegelman BM: Peroxisome proliferator-activated receptor-gamma coactivator 1 alpha (PGC-1 alpha): transcriptional coactivator and metabolic regulator. Endocr Rev 2003; 24: 78-90.
29. Esterbauer H, Oberkofler H, Krempler F, Patsch W: Human peroxisome proliferator activated receptor gamma coactivator 1 (PPARGC1) gene: cDNA sequence, genomic organization, chromosomal localization, and tissue expression. Genomics 1999; 62: 98-102.
30. Miura S, Kai Y, Kamei Y, Ezaki O: Isoform-specific increases in murine skeletal muscle peroxisome proliferator-activated receptor-gamma coactivator-1alpha (PGC-1alpha) mRNA in response to beta2-adrenergic receptor activation and exercise. Endocrinology 2008; 149: 4527-4533.
31. Ma D, Li S, Lucas EK, Cowell RM, Lin JD: Neuronal inactivation of peroxisome proliferator-activated receptor gamma coactivator 1alpha (PGC-1alpha) protects mice from diet-induced obesity and leads to degenerative lesions. J Biol Chem 2010; 285: 39087-39095.
32. Yang Y, Mo X, Chen S, Lu X, Gu D: Association of peroxisome proliferator-activated receptor gamma coactivator 1 alpha (PPARGC1A) gene polymorphisms and type 2 diabetes mellitus: a meta-analysis. Diabetes Metab Res Rev 2011; 27: 177-184.
33. Esterbauer H, Oberkofler H, Linnemayr V, Iglseder B, Hedegger M, Wolfsgruber P, et al: Peroxisome proliferatoractivated receptor-gamma coactivator-1 gene locus: associations with obesity indices in middle-aged women. Diabetes 2002; 51: 1281-1286.
34. Ridderstrale M, Johansson LE, Rastam L, Lindblad U: Increased risk of obesity associated with the variant allele of the PPARGC1A Gly482Ser polymorphism in physically inactive elderly men. Diabetologia 2006; 49: 496-500.
35. Barroso I, Luan J, Sandhu MS, Franks PW, Crowley V, Schafer AJ, et al: Meta-analysis of the Gly482Ser variant in PPARGC1A in type 2 diabetes and related phenotypes. Diabetologia 2006; 49: 501-505.
36. Stumvoll M, Fritsche A, t'Hart LM, Machann J, Thamer C, Tschritter O, et al: The Gly482Ser variant in the peroxisome proliferator-activated receptor gamma coactivator-1 is not associated with diabetes-related traits in non-diabetic German and Dutch populations. Exp Clin Endocrinol Diabetes 2004; 112: 253-257.
37. Chen S, Yan W, Huang J, Yang W, Gu D: Peroxisome proliferator-activated receptor-gamma coactivator-1alpha polymorphism is not associated with essential hypertension and type 2 diabetes mellitus in Chinese population. Hypertens Res 2004; 27: 813-820.
38. Nitz I, Ewert A, Klapper M, Doring F: Analysis of PGC-1alpha variants Gly482Ser and Thr612Met concerning their PPARgamma2-coactivation function. Biochem Biophys Res Commun 2007; 353: 481-486.
39. Choi YS, Hong JM, Lim S, Ko KS, Pak YK: Impaired coactivator activity of the Gly482 variant of peroxisome proliferator- activated receptor gamma coactivator-1alpha (PGC-1alpha) on mitochondrial transcription factor A (Tfam) promoter. Biochem Biophys Res Commun 2006; 344: 708-712.
40. Wu Z, Puigserver P, Andersson U, Zhang C, Adelmant G, Mootha V, et al: Mechanisms controlling mitochondrial biogenesis and respiration through the thermogenic coactivator PGC-1. Cell 1999; 98: 115-124.
41. Semenkovich CF: Regulation of fatty acid synthase (FAS). Prog Lipid Res 1997; 36: 43-53.
42. Franck N, Gummesson A, Jernas M, Glad C, Svensson PA, Guillot G, et al: Identification of adipocyte genes regulated by caloric intake. J Clin Endocrinol Metab 2011; 96:E413-E418.
43. Berndt J, Kovacs P, Ruschke K, Kloting N, Fasshauer M, Schon MR, et al: Fatty acid synthase gene expression in human adipose tissue: association with obesity and type 2 diabetes. Diabetologia 2007; 50: 1472-1480.
44. Loftus TM, Jaworsky DE, Frehywot GL, Townsend CA, Ronnett GV, Lane MD, et al: Reduced food intake and body weight in mice treated with fatty acid synthase inhibitors. Science 2000; 288: 2379-2381.
45. Tu Y, Thupari JN, Kim EK, Pinn ML, Moran TH, Ronnett GV, et al: C75 alters central and peripheral gene expression to reduce food intake and increase energy expenditure. Endocrinology 2005; 146: 486-493.
46. Kovacs P, Harper I, Hanson RL, Infante AM, Bogardus C, Tataranni PA, et al: A novel missense substitution (Val- 1483Ile) in the fatty acid synthase gene (FAS) is associated with percentage of body fat and substrate oxidation rates in nondiabetic Pima Indians. Diabetes 2004; 53: 1915-1919.
47. Schleinitz D, Kloting N, Korner A, Berndt J, Reichenbacher M, Tonjes A, et al: Effect of genetic variation in the human fatty acid synthase gene (FASN) on obesity and fat depot-specific mRNA expression. Obesity (Silver Spring) 2010; 18: 1218-1225.
48. Moreno-Navarrete JM, Botas P, Valdes S, Ortega FJ, Delgado E, Vazquez-Martin A, et al: Val1483Ile in FASN gene is linked to central obesity and insulin sensitivity in adult white men. Obesity (Silver Spring) 2009; 17: 1755-1761.
49. Horton JD, Goldstein JL, Brown MS: SREBPs: activators of the complete program of cholesterol and fatty acid synthesis in the liver. J Clin Invest 2002; 109: 1125-1131.
50. Shimomura I, Shimano H, Horton JD, Goldstein JL, Brown MS: Differential expression of exons 1a and 1c in mRNAs for sterol regulatory element binding protein-1 in human and mouse organs and cultured cells. J Clin Invest 1997; 99: 838-845.
51. Shimano H: SREBPs: physiology and pathophysiology of the SREBP family. FEBS J 2009; 276: 616-621.
52. Shimano H: Sterol regulatory element-binding protein family as global regulators of lipid synthetic genes in energy metabolism. Vitam Horm 2002; 65: 167-194.
53. Grarup N, Stender-Petersen KL, Andersson EA, Jorgensen T, Borch-Johnsen K, Sandbaek A, et al: Association of variants in the sterol regulatory element-binding factor 1 (SREBF1) gene with type 2 diabetes, glycemia, and insulin resistance: a study of 15,734 Danish subjects. Diabetes 2008; 57: 1136-1142.
54. Paradis AM, Godin G, Perusse L, Vohl MC: Associations between dietary patterns and obesity phenotypes. Int J Obes (Lond) 2009; 33: 1419-1426.
55. Goulet J, Nadeau G, Lapointe A, Lamarche B, Lemieux S: Validity and reproducibility of an interviewer-administered food frequency questionnaire for healthy French-Canadian men and women. Nutr J 2004; 3: 13.
56. Yen CJ, Beamer BA, Negri C, Silver K, Brown KA, Yarnall DP, et al: Molecular scanning of the human peroxisome proliferator activated receptor gamma (hPPAR gamma) gene in diabetic Caucasians: identification of a Pro12Ala PPAR gamma 2 missense mutation. Biochem Biophys Res Commun 1997; 241: 270-274.
57. Livak KJ: Allelic discrimination using fluorogenic probes and the 5 nuclease assay. Genet Anal 1999; 14: 143-149.
58. Robitaille J, Despres JP, Perusse L, Vohl MC: The PPAR-gamma P12A polymorphism modulates the relationship between dietary fat intake and components of the metabolic syndrome: results from the Quebec Family Study. Clin Genet 2003; 63: 109-116.
59. Robitaille J, Gaudet D, Perusse L, Vohl MC: Features of the metabolic syndrome are modulated by an interaction between the peroxisome proliferator-activated receptor-delta -87T 1 C polymorphism and dietary fat in French-Canadians. Int J Obes (Lond) 2007; 31: 411-417.
60. Felder TK, Oberkofler H, Weitgasser R, Mackevics V, Krempler F, Paulweber B, et al: The SREBF-1 locus is associated with type 2 diabetes and plasma adiponectin levels in a middle-aged Austrian population. Int J Obes (Lond) 2007; 31: 1099-1103.
61. Bouchard-Mercier A, Godin G, Lamarche B, Perusse L, Vohl MC: Effects of peroxisome proliferator-activated receptors, dietary fat intakes and gene-diet interactions on peak particle diameters of low-density lipoproteins. J Nutrigenet Nutrigenomics 2011; 4: 36-48.
62. Kallen CB, Lazar MA: Antidiabetic thiazolidinediones inhibit leptin (ob) gene expression in 3T3-L1 adipocytes. Proc Natl Acad Sci USA 1996; 93: 5793-5796.
63. Ahima RS, Prabakaran D, Mantzoros C, Qu D, Lowell B, Maratos-Flier E, et al: Role of leptin in the neuroendocrine response to fasting. Nature 1996; 382: 250-252.
64. Ryan KK, Li B, Grayson BE, Matter EK, Woods SC, Seeley RJ: A role for central nervous system PPAR-gamma in the regulation of energy balance. Nat Med 2011; 17: 623-626.
65. Chen K, Li F, Li J, Cai H, Strom S, Bisello A, et al: Induction of leptin resistance through direct interaction of C-reactive protein with leptin. Nat Med 2006; 12: 425-432.
66. Evans D, Mann WA, de HJ, Michel U, Wendt D, Kortner B, et al: Variation in the gene for human peroxisome proliferator activated receptor gamma (PPARgamma) does not play a major role in the development of morbid obesity. Int J Obes Relat Metab Disord 2000; 24: 647-651.
67. Ereqat S, Nasereddin A, Azmi K, Abdeen Z, Amin R: Impact of the Pro12Ala Polymorphism of the PPAR-Gamma 2 Gene on Metabolic and Clinical Characteristics in the Palestinian Type 2 Diabetic Patients. PPAR Res 2009; 2009: 874126.
68. Ahluwalia M, Evans M, Morris K, Currie C, Davies S, Rees A, et al: The influence of the Pro12Ala mutation of the PPAR-gamma receptor gene on metabolic and clinical characteristics in treatment-naive patients with type 2 diabetes. Diabetes Obes Metab 2002; 4: 376-378.
69. Anderson AL, Harris TB, Houston DK, Tylavsky FA, Lee JS, Sellmeyer DE, et al: Relationships of dietary patterns with body composition in older adults differ by gender and PPAR-gamma Pro12Ala genotype. Eur J Nutr 2010; 49: 385-394.
70. Adamo KB, Dent R, Langefeld CD, Cox M, Williams K, Carrick KM, et al: Peroxisome proliferator-activated receptor gamma 2 and acyl-CoA synthetase 5 polymorphisms influence diet response. Obesity (Silver Spring) 2007; 15: 1068-1075.
71. Memisoglu A, Hu FB, Hankinson SE, Manson JE, De V, I, Willett WC, et al: Interaction between a peroxisome proliferator- activated receptor gamma gene polymorphism and dietary fat intake in relation to body mass. Hum Mol Genet 2003; 12: 2923-2929.
72. Luan J, Browne PO, Harding AH, Halsall DJ, O'Rahilly S, Chatterjee VK, et al: Evidence for gene-nutrient interaction at the PPARgamma locus. Diabetes 2001; 50: 686-689.
73. Franks PW, Jablonski KA, Delahanty L, Hanson RL, Kahn SE, Altshuler D, et al: The Pro12Ala variant at the peroxisome proliferator-activated receptor gamma gene and change in obesity-related traits in the Diabetes Prevention Program. Diabetologia 2007; 50: 2451-2460.
74. Vaccaro O, Lapice E, Monticelli A, Giacchetti M, Castaldo I, Galasso R, et al: Pro12Ala polymorphism of the PPARgamma2 locus modulates the relationship between energy intake and body weight in type 2 diabetic patients. Diabetes Care 2007; 30: 1156-1161.
75. Lagou V, Scott RA, Manios Y, Chen TL, Wang G, Grammatikaki E, et al: Impact of peroxisome proliferator-activated receptors gamma and delta on adiposity in toddlers and preschoolers in the GENESIS Study. Obesity (Silver Spring) 2008; 16: 913-918.
76. Dedoussis GV, Manios Y, Kourlaba G, Kanoni S, Lagou V, Butler J, et al: An age-dependent diet-modified effect of the PPARgamma Pro12Ala polymorphism in children. Metabolism 2011; 60: 467-473.
77. Kim EK, Miller I, Landree LE, Borisy-Rudin FF, Brown P, Tihan T, et al: Expression of FAS within hypothalamic neurons: a model for decreased food intake after C75 treatment. Am J Physiol Endocrinol Metab 2002; 283:E867-E879.
78. Arsenijevic D, de BF, Plamondon J, Paradis E, Vallet P, Richard D, et al: Increased infarct size and lack of hyperphagic response after focal cerebral ischemia in peroxisome proliferator-activated receptor beta-deficient mice. J Cereb Blood Flow Metab 2006; 26: 433-445.
79. Jguirim-Souissi I, Jelassi A, Hrira Y, Najah M, Slimani A, Addad F, et al.+294T/C polymorphism in the PPAR-delta gene is associated with risk of coronary artery disease in normolipidemic Tunisians. Genet Mol Res 2010; 9: 1326-1333.
80. Aberle J, Hopfer I, Beil FU, Seedorf U: Association of the T+294C polymorphism in PPAR delta with low HDL cholesterol and coronary heart disease risk in women. Int J Med Sci 2006; 3: 108-111.
81. Eberle D, Clement K, Meyre D, Sahbatou M, Vaxillaire M, Le GA, et al: SREBF-1 gene polymorphisms are associated with obesity and type 2 diabetes in French obese and diabetic cohorts. Diabetes 2004; 53: 2153-2157.
82. Black AE, Goldberg GR, Jebb SA, Livingstone MB, Cole TJ, Prentice AM: Critical evaluation of energy intake data using fundamental principles of energy physiology: 2. Evaluating the results of published surveys. Eur J Clin Nutr 1991; 45: 583-599.