Genetics of metabolic syndrome

Reviews in Endocrine and Metabolic Disorders

Volumn 15, Issue 4, 2014, Pages 243-252

  Stančáková, Alena ^a   Laakso, Markku ^a  

^a UNIVERSITY OF EASTERN FINLAND   (Finland)

Author keywords

Genetics; Genome wide association study; Insulin resistance; Lipids; Metabolic syndrome; Obesity

Indexed keywords

MICRORNA;

EPIGENETICS; GENE STRUCTURE; GENETIC ASSOCIATION; GENETIC LINKAGE; GENETIC VARIABILITY; GENETICS; HUMAN; META ANALYSIS (TOPIC); METABOLIC SYNDROME X; NONHUMAN; PATHOGENESIS; PREVALENCE; REVIEW; GENETIC EPIGENESIS; INSULIN RESISTANCE; LIPID METABOLISM; METABOLISM; PHENOTYPE;

EPIGENESIS, GENETIC; HUMANS; INSULIN RESISTANCE; LIPID METABOLISM; METABOLIC SYNDROME X; PHENOTYPE;

EID: 84911969440     PISSN: 13899155     EISSN: 15732606     Source Type: Journal    
DOI: 10.1007/s11154-014-9293-9     Document Type: Review

References (82)

1. Alberti KG, Zimmet PZ. Definition, diagnosis and classification of diabetes mellitus and its complications. Part 1: diagnosis and classification of diabetes mellitus provisional report of a WHO consultation. Diabet Med. 1998;15:539–53.
2. Balkau B, Charles MA. Comment on the provisional report from the WHO consultation. European Group for the Study of Insulin Resistance (EGIR). Diabet Med. 1999;16:442–3.
3. Expert Panel on Detection, Evaluation, and Treatment of High Blood Cholesterol in Adults. Executive Summary of The Third Report of The National Cholesterol Education Program (NCEP) Expert Panel on Detection, Evaluation, And Treatment of High Blood Cholesterol In Adults (Adult Treatment Panel III). JAMA. 2001;285:2486–97
4. Grundy SM, Brewer HB, Cleeman JI, Smith SC, Lenfant D. for the Conference Participants. Definition of metabolic syndrome: report of the National, Heart, Lung, and Blood Institute/American Heart Association conference on scientific issues related to definition. Circulation. 2004;109:433–8.
5. Alberti KG, Zimmet P, Shaw J. IDF epidemiology task force consensus group. The metabolic syndrome–a new worldwide definition. Lancet. 2005;366:1059–62.
6. Alberti KG, Eckel RH, Grundy SM, Zimmet PZ, Cleeman JI, Donato KA, et al. International diabetes federation task force on epidemiology and prevention; hational heart, lung, and blood institute; american heart association; world heart federation; international atherosclerosis society; international association for the study of obesity. Harmonizing the metabolic syndrome: a joint interim statement of the international diabetes federation task force on epidemiology and prevention; national heart, lung, and blood institute; american heart association; world heart federation; international atherosclerosis society; and international association for the study of obesity. Circulation. 2009;120:1640–5.
7. Ilanne-Parikka P, Eriksson JG, Lindström J, Hämäläinen H, Keinänen-Kiukaanniemi S, Laakso M, et al. innish Diabetes Prevention Study Group. Prevalence of the metabolic syndrome and its components: findings from a Finnish general population sample and the Diabetes Prevention Study cohort. Diabetes Care. 2004;27:2135–40.
8. Athyros VG, Bouloukos VI, Pehlivanidis AN, Papageorgiou AA, Dionysopoulou SG, Symeonidis AN, et al. MetS-greece collaborative group. The prevalence of the metabolic syndrome in Greece: the MetS-greece multicentre study. Diabetes Obes Metab. 2005;7:397–405.
9. Ford ES. Prevalence of the metabolic syndrome in US populations. Endocrinol Metab Clin North Am. 2004;33:333–50.
10. Guallar-Castillón P, Pérez RF, López García E, León-Muñoz LM, Aguilera MT, Graciani A, Gutiérrez-Fisac JL, Banegas JR, Rodríguez-Artalejo F. Magnitude and Management of Metabolic Syndrome in Spain in 2008–2010: The ENRICA Study. Rev Esp Cardiol. 2014.
11. Prasad DS, Kabir Z, Dash AK, Das BC. Prevalence and risk factors for metabolic syndrome in Asian Indians: A community study from urban Eastern India. J Cardiovasc Dis Res. 2012;3:204–11.
12. Ford ES, Giles WH, Dietz WH. Prevalence of the metabolic syndrome among US adults: findings from the third National Health and Nutrition Examination Survey. JAMA. 2002;287:356–9.
13. Ford ES, Li C, Zhao G, Pearson WS, Mokdad AH. Prevalence of the metabolic syndrome among U.S. adolescents using the definition from the International Diabetes Federation. Diabetes Care. 2008;31:587–9.
14. McNeill AM, Rosamond WD, Girman CJ, Golden SH, Schmidt MI, East HE, et al. The metabolic syndrome and 11-year risk of incident cardiovascular disease in the atherosclerosis risk in communities study. Diabetes Care. 2005;28:385–90.
15. Lakka HM, Laaksonen DE, Lakka TA, Niskanen LK, Kumpusalo E, Tuomilehto J, et al. The metabolic syndrome and total and cardiovascular disease mortality in middle-aged men. JAMA. 2002;288:2709–16.
16. Hunt KJ, Resendez RG, Williams K, Haffner SM, Stern MP. San Antonio heart study. National cholesterol education program versus world health organization metabolic syndrome in relation to all-cause and cardiovascular mortality in the San Antonio heart study. Circulation. 2004;110:1251–7.
17. Ford ES, Schulze MB, Pischon T, Bergmann MM, Joost HG, Boeing H. Metabolic syndrome and risk of incident diabetes: findings from the european prospective investigation into cancer and nutrition-Potsdam study. Cardiovasc Diabetol. 2008;7:35.
18. Ford ES. Risks for all-cause mortality, cardiovascular disease, and diabetes associated with the metabolic syndrome: a summary of the evidence. Diabetes Care. 2005;28:1769–78.
19. Gallagher EJ, Leroith D, Karnieli E. Insulin resistance in obesity as the underlying cause for the metabolic syndrome. Mt Sinai J Med. 2010;77:511–23.
20. Meigs JB, Rutter MK, Sullivan LM, Fox CS, D'Agostino Sr RB, Wilson PW. Impact of insulin resistance on risk of type 2 diabetes and cardiovascular disease in people with metabolic syndrome. Diabetes Care. 2007;30:1219–25.
21. Cheal KL, Abbasi F, Lamendola C, McLaughlin T, Reaven GM, Ford ES. Relationship to insulin resistance of the Adult Treatment Panel III diagnostic criteria for identification of the metabolic syndrome. Diabetes. 2004;53:1195–200.
22. Meigs JB, Wilson PW, Fox CS, Vasan RS, Nathan DM, Sullivan LM, et al. Body mass index, metabolic syndrome, and risk of type 2 diabetes or cardiovascular disease. J Clin Endocrinol Metab. 2006;91:2906–12.
23. Lin HF, Boden-Albala B, Juo SH, Park N, Rundek T, Sacco RL. Heritabilities of the metabolic syndrome and its components in the Northern Manhattan Family Study. Diabetologia. 2005;48:2006–12.
24. Bellia A, Giardina E, Lauro D, Tesauro M, Di Fede G, Cusumano G, et al. “The Linosa Study”: epidemiological and heritability data of the metabolic syndrome in a Caucasian genetic isolate. Nutr Metab Cardiovasc Dis. 2009;19:455–61.
25. Carmelli D, Cardon LR, Fabsitz R. Clustering of hypertension, diabetes, and obesity in adult male twins: same genes or same environments? Am J Hum Genet. 1994;55:566–73.
26. Edwards KL, Newman B, Mayer E, Selby JV, Krauss RM, Austin MA. Heritability of factors of the insulin resistance syndrome in women twins. Genet Epidemiol. 1997;14:241–53.
27. Kissebah AH, Sonnenberg GE, Myklebust J, Goldstein M, Broman K, James RG, et al. Quantitative trait loci on chromosomes 3 and 17 influence phenotypes of the metabolic syndrome. Proc Natl Acad Sci U S A. 2000;97:14478–83.
28. Loos RJ, Katzmarzyk PT, Rao DC, Rice T, Leon AS, Skinner JS, et al. HERITAGE Family Study. Genome-wide linkage scan for the metabolic syndrome in the HERITAGE Family Study. J Clin Endocrinol Metab. 2003;88:5935–43.
29. Tang W, Miller MB, Rich SS, North KE, Pankow JS, Borecki IB, et al. National Heart, Lung, and Blood Institute Family Heart Study. Linkage analysis of a composite factor for the multiple metabolic syndrome: the National Heart, Lung, and Blood Institute Family Heart Study. Diabetes. 2003;52:2840–7.
30. Edwards KL, Hutter CM, Wan JY, Kim H, Monks SA. Genome-wide linkage scan for the metabolic syndrome: the GENNID study. Obesity (Silver Spring). 2008;16:1596–601.
31. Zabaneh D, Balding DJ. A genome-wide association study of the metabolic syndrome in Indian Asian men. PLoS One. 2010;5:e11961.
32. Kraja AT, Vaidya D, Pankow JS, Goodarzi MO, Assimes TL, Kullo IJ, et al. A bivariate genome-wide approach to metabolic syndrome: STAMPEED consortium. Diabetes. 2011;60:1329–39.
33. Kristiansson K, Perola M, Tikkanen E, Kettunen J, Surakka I, Havulinna AS, et al. Genome-wide screen for metabolic syndrome susceptibility Loci reveals strong lipid gene contribution but no evidence for common genetic basis for clustering of metabolic syndrome traits. Circ Cardiovasc Genet. 2012;5:242–9.
34. Avery CL, He Q, North KE, Ambite JL, Boerwinkle E, Fornage M, et al. A phenomics-based strategy identifies loci on APOC1, BRAP, and PLCG1 associated with metabolic syndrome phenotype domains. PLoS Genet. 2011;7:e1002322.
35. Fall T, Ingelsson E. Genome-wide association studies of obesity and metabolic syndrome. Mol Cell Endocrinol. 2014;382:740–57.
36. Global Lipids Genetics Consortium, Willer CJ, Schmidt EM, Sengupta S, et al. Discovery and refinement of loci associated with lipid levels. Nat Genet. 2013;45:1274–83.
37. Kilpeläinen TO, Zillikens MC, Stančáková A, et al. Genetic variation near IRS1 associates with reduced adiposity and an impaired metabolic profile. Nat Genet. 2011;43:753–60.
38. Dupuis J, Langenberg C, Prokopenko I, et al. New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk. Nat Genet. 2010;42:105–16.
39. Saxena R, Hivert MF, Langenberg C, et al. Genetic variation in GIPR influences the glucose and insulin responses to an oral glucose challenge. Nat Genet. 2010;42:142–8.
40. Diabetes Genetics Initiative of Broad Institute of Harvard and MIT, Lund University, andartis Institutes of BioMedical Research, Saxena R, et al. Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels. Science. 2007;316:1331–6.
41. Willer CJ, Sanna S, Jackson AU, et al. Newly identified loci that influence lipid concentrations and risk of coronary artery disease. Nat Genet. 2008;40:161–9.
42. Stančáková A, Paananen J, Soininen P, Kangas AJ, Bonnycastle LL, Morken MA, et al. Effects of 34 risk loci for type 2 diabetes or hyperglycemia on lipoprotein subclasses and their composition in 6,580 nondiabetic Finnish men. Diabetes. 2011;60:1608–16.
43. Speliotes EK, Yerges-Armstrong LM, Wu J, et al. Genome-wide association analysis identifies variants associated with nonalcoholic fatty liver disease that have distinct effects on metabolic traits. PLoS Genet. 2011;7:e1001324.
44. Frayling TM, Timpson NJ, Weedon MN, Zeggini E, Freathy RM, Lindgren CM, et al. A common variant in the FTO gene is associated with body mass index and predisposes to childhood and adult obesity. Science. 2007;316:889–94.
45. Chambers JC, Elliott P, Zabaneh D, Zhang W, Li Y, Froguel P, et al. Common genetic variation near MC4R is associated with waist circumference and insulin resistance. Nat Genet. 2008;40:716–8.
46. Do R, Bailey SD, Desbiens K, Belisle A, Montpetit A, Bouchard C, et al. Genetic variants of FTO influence adiposity, insulin sensitivity, leptin levels, and resting metabolic rate in the Quebec Family Study. Diabetes. 2008;57:1147–50.
47. Morris AP, Voight BF, Teslovich TM, et al. Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes. Nat Genet. 2012;44:981–90.
48. Heid IM, Jackson AU, Randall JC, et al. Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution. Nat Genet. 2010;42:949–60.
49. Kooner JS, Saleheen D, Sim X, et al. Genome-wide association study in individuals of South Asian ancestry identifies six new type 2 diabetes susceptibility loci. Nat Genet. 2011;43:984–9.
50. Scott RA, Lagou V, Welch RP, et al. Large-scale association analyses identify new loci influencing glycemic traits and provide insight into the underlying biological pathways. Nat Genet. 2012;44:991–1005.
51. Zeggini E, Scott LJ, Saxena R, et al. Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes. Nat Genet. 2008;40:638–45.
52. Steinthorsdottir V, Thorleifsson G, Reynisdottir I, et al. A variant in CDKAL1 influences insulin response and risk of type 2 diabetes. Nat Genet. 2007;39:770–5.
53. Wen W, Cho YS, Zheng W, et al. Meta-analysis identifies common variants associated with body mass index in east Asians. Nat Genet. 2012;44:307–11.
54. Speliotes EK, Willer CJ, Berndt SI, et al. Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index. Nat Genet. 2010;42:937–48.
55. Bi M, Kao WH, Boerwinkle E, Hoogeveen RC, Rasmussen-Torvik LJ, Astor BC, et al. Association of rs780094 in GCKR with metabolic traits and incident diabetes and cardiovascular disease: the ARIC Study. PLoS One. 2010;5:e11690.
56. Povel CM, Boer JM, Onland-Moret NC, Dollé ME, Feskens EJ, van der Schouw YT. Single nucleotide polymorphisms (SNPs) involved in insulin resistance, weight regulation, lipid metabolism and inflammation in relation to metabolic syndrome: an epidemiological study. Cardiovasc Diabetol. 2012;11:133.
57. Dušátková L, Zamrazilová H, Sedláčková B, Včelák J, Hlavatý P, Aldhoon Hainerová I, et al. Association of obesity susceptibility gene variants with metabolic syndrome and related traits in 1,443 czech adolescents. Folia Biol (Praha). 2013;59:123–33.
58. Yang CW, Li CI, Liu CS, Bau DT, Lin CH, Lin WY, et al. The joint effect of cigarette smoking and polymorphisms on LRP5, LEPR, near MC4R and SH2B1 genes on metabolic syndrome susceptibility in Taiwan. Mol Biol Rep. 2013;40:525–33.
59. Heid IM, Vollmert C, Kronenberg F, Huth C, Ankerst DP, Luchner A, et al. Association of the MC4R V103I polymorphism with the metabolic syndrome: the KORA Study. Obesity (Silver Spring). 2008;16:369–76.
60. Kawajiri T, Osaki Y, Kishimoto T. Association of gene polymorphism of the fat mass and obesity associated gene with metabolic syndrome: a retrospective cohort study in Japanese workers. Yonago Acta Med. 2012;55:29–40.
61. Hotta K, Kitamoto T, Kitamoto A, Mizusawa S, Matsuo T, Nakata Y, et al. Association of variations in the FTO, SCG3 and MTMR9 genes with metabolic syndrome in a Japanese population. J Hum Genet. 2011;56:647–51.
62. Wang T, Huang Y, Xiao XH, Wang DM, Diao CM, Zhang F, et al. The association between common genetic variation in the FTO gene and metabolic syndrome in Han Chinese. Chin Med J (Engl). 2010;123:1852–8.
63. Attaoua R. Ait El Mkadem S, Lautier C, Kaouache S, Renard E, Brun JF, Fedou C, Gris JC, Bringer J, Grigorescu F. Association of the FTO gene with obesity and the metabolic syndrome is independent of the IRS-2 gene in the female population of Southern France. Diabetes Metab. 2009;35:476–83.
64. Al-Attar SA, Pollex RL, Ban MR, Young TK, Bjerregaard P, Anand SS, et al. Association between the FTO rs9939609 polymorphism and the metabolic syndrome in a non-Caucasian multi-ethnic sample. Cardiovasc Diabetol. 2008;7:5.
65. Zhou D, Liu H, Zhou M, Wang S, Zhang J, Liao L, et al. Common variant (rs9939609) in the FTO gene is associated with metabolic syndrome. Mol Biol Rep. 2012;39:6555–61.
66. Wang H, Dong S, Xu H, Qian J, Yang J. Genetic variants in FTO associated with metabolic syndrome: a meta- and gene-based analysis. Mol Biol Rep. 2012;39:5691–8.
67. 1(c) levels and the prevalence of metabolic syndrome in Japanese men: interaction with dietary energy intake. Am J Epidemiol. 2010;172:985–91.
68. Gerken T, Girard CA, Tung YC, Webby CJ, Saudek V, Hewitson KS, et al. The obesity-associated FTO gene encodes a 2-oxoglutarate-dependent nucleic acid demethylase. Science. 2007;318:1469–72.
69. Fischer J, Koch L, Emmerling C, Vierkotten J, Peters T, Brüning JC, et al. Inactivation of the Fto gene protects from obesity. Nature. 2009;458:894–8.
70. Church C, Moir L, McMurray F, Girard C, Banks GT, Teboul L, et al. Overexpression of Fto leads to increased food intake and results in obesity. Nat Genet. 2010;42:1086–92.
71. Tschritter O, Preissl H, Yokoyama Y, Machicao F, Häring HU, Fritsche A. Variation in the FTO gene locus is associated with cerebrocortical insulin resistance in humans. Diabetologia. 2007;50:2602–3.
72. Butler AA, Cone RD. The melanocortin receptors: lessons from knockout models. Neuropeptides. 2002;36:77–84.
73. Tamemoto H, Kadowaki T, Tobe K, Yagi T, Sakura H, Hayakawa T, et al. Insulin resistance and growth retardation in mice lacking insulin receptor substrate-1. Nature. 1994;372:182–6.
74. Wolffe AP, Guschin D. Review: chromatin structural features and targets that regulate transcription. J Struct Biol. 2000;129:102–22.
75. Dabelea D, Hanson RL, Lindsay RS, Pettitt DJ, Imperatore G, Gabir MM, et al. Intrauterine exposure to diabetes conveys risks for type 2 diabetes and obesity: a study of discordant sibships. Diabetes. 2000;49:2208–11.
76. Nilsson E,sson PA, Perfilyev A, Volkov P, Pedersen M, Svensson MK, Poulsen P, Ribel-Madsen R, Pedersen NL, Almgren P, Fadista J, Rönn T, Klarlund-Pedersen B, Scheele C, Vaag A, Ling C. Altered DNA methylation and differential expression of genes influencing metabolism and inflammation in adipose tissue from subjects with type 2 diabetes. Diabetes. 2014; doi:10.2337/db13-1459.
77. Dayeh T, Volkov P, Salö S, Hall E, Nilsson E, Olsson AH, et al. Genome-wide DNA methylation analysis of human pancreatic islets from type 2 diabetic and non-diabetic donors identifies candidate genes that influence insulin secretion. PLoS Genet. 2014;10:e1004160.
78. Toperoff G, Aran D, Kark JD, Rosenberg M, Dubnikov T, Nissan B, et al. Genome-wide survey reveals predisposing diabetes type 2-related DNA methylation variations in human peripheral blood. Hum Mol Genet. 2012;21:371–83.
79. Zhang Y, Kent 2nd JW, Lee A, Cerjak D, Ali O, Diasio R, et al. Fatty acid binding protein 3 (fabp3) is associated with insulin, lipids and cardiovascular phenotypes of the metabolic syndrome through epigenetic modifications in a Northern European family population. BMC Med Genomics. 2013;6:9.
80. Milagro FI, Gómez-Abellán P, Campión J. tínez JA, Ordovás JM, Garaulet M. CLOCK, PER2 and BMAL1 DNA methylation: association with obesity and metabolic syndrome characteristics and monounsaturated fat intake. Chronobiol Int. 2012;29:1180–94.
81. Rottiers V, Näär AM. MicroRNAs in metabolism and metabolic disorders. Nat Rev Mol Cell Biol. 2012;13:239–50.
82. Ge Q, Brichard S, Yi X, Li Q. microRNAs as a new mechanism regulating adipose tissue inflammation in obesity and as a novel therapeutic strategy in the metabolic syndrome. J Immunol Res. 2014;2014:987285