Genetics of type 2 diabetes in European populations

Journal of Diabetes

Volumn 4, Issue 3, 2012, Pages 203-212

  Qi, Qibin ^a   Hu, Frank B ^a,b  

^a HARVARD SCHOOL OF PUBLIC HEALTH   (United States)

^b BRIGHAM AND WOMEN S HOSPITAL   (United States)

Author keywords

Europeans; Genetics; Genome wide association studies; Type 2 diabetes

Indexed keywords

ALANINE; GLUTAMIC ACID; HEPATOCYTE NUCLEAR FACTOR 1BETA; INWARDLY RECTIFYING POTASSIUM CHANNEL SUBUNIT KIR6.2; LYSINE; METHYL CPG BINDING PROTEIN 2; PEROXISOME PROLIFERATOR ACTIVATED RECEPTOR GAMMA; PROLINE; TRANSCRIPTION FACTOR 7 LIKE 2;

CELL FUNCTION; DNA METHYLATION; DNA POLYMORPHISM; ENVIRONMENTAL FACTOR; EPIGENETICS; ETHNIC GROUP; EUROPE; GENE LOCUS; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC PREDISPOSITION; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; GENETICS; GENOTYPE ENVIRONMENT INTERACTION; HEREDITY; HUMAN; META ANALYSIS (TOPIC); NATIONAL HEALTH SERVICE; NON INSULIN DEPENDENT DIABETES MELLITUS; NONHUMAN; OBESITY; PANCREAS ISLET BETA CELL; PATHOPHYSIOLOGY; PRIORITY JOURNAL; RECEIVER OPERATING CHARACTERISTIC; REVIEW; SINGLE NUCLEOTIDE POLYMORPHISM;

ASIAN CONTINENTAL ANCESTRY GROUP; CHINA; DIABETES MELLITUS, TYPE 2; EUROPEAN CONTINENTAL ANCESTRY GROUP; GENE-ENVIRONMENT INTERACTION; GENETIC PREDISPOSITION TO DISEASE; GENOME-WIDE ASSOCIATION STUDY; HUMANS; PROGNOSIS;

EID: 84865344371     PISSN: 17530393     EISSN: 17530407     Source Type: Journal    
DOI: 10.1111/j.1753-0407.2012.00224.x     Document Type: Review

References (87)

1. International Diabetes Federation. Diabetes Atlas, 5th edn. Available from: http://www.idf.org/ (accessed 1 May 2012).
2. Elbein SC. The genetics of human noninsulin-dependent (type 2) diabetes mellitus. J Nutr 1997; 127 (Suppl.):1891S-6S.
3. Gloyn AL, McCarthy MI. The genetics of type 2 diabetes. Best Pract Res Clin Endocrinol Metab. 2001; 15: 293-308.
4. Serjeantson SW, Owerbach D, Zimmet P, Nerup J, Thoma K. Genetics of diabetes in Nauru: Effects of foreign admixture, HLA antigens and the insulin-gene-linked polymorphism. Diabetologia. 1983; 25: 13-7.
5. Das SK, Elbein SC. The genetic basis of type 2 diabetes. Cellscience. 2006; 2: 100-31.
6. Altshuler D, Hirschhorn JN, Klannemark M et al. The common PPAR[gamma] Pro12Ala polymorphism is associated with decreased risk of type 2 diabetes. Nat Genet. 2000; 26: 76-80.
7. ATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) confirm that the KCNJ11 E23K variant is associated with type 2 diabetes. Diabetes. 2003; 52: 568-72.
8. Grant SFA, Thorleifsson G, Reynisdottir I et al. Variant of transcription factor 7-like 2 (TCF7L2) gene confers risk of type 2 diabetes. Nat Genet. 2006; 38: 320-3.
9. Yu W, Hu C, Jia W. Genetic advances of type 2 diabetes in Chinese populations. J Diabetes. 2012; 4: 212-19.
10. Sandhu MS, Weedon MN, Fawcett KA et al. Common variants in WFS1 confer risk of type 2 diabetes. Nat Genet. 2007; 39: 951-3.
11. Gudmundsson J, Sulem P, Steinthorsdottir V et al. Two variants on chromosome 17 confer prostate cancer risk, and the one in TCF2 protects against type 2 diabetes. Nat Genet. 2007; 39: 977-83.
12. Deeb SS, Fajas L, Nemoto M et al. A Pro12Ala substitution in PPAR[gamma]2 associated with decreased receptor activity, lower body mass index and improved insulin sensitivity. Nat Genet. 1998; 20: 284-7.
13. Saxena R, Voight BF, Lyssenko V et al. Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels. Science. 2007; 316: 1331-6.
14. Scott LJ, Mohlke KL, Bonnycastle LL et al. A genome-wide association study of type 2 diabetes in Finns detects multiple susceptibility variants. Science. 2007; 316: 1341-5.
15. Zeggini E, Weedon MN, Lindgren CM et al. Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes. Science. 2007; 316: 1336-41.
16. + channel gene (KIR6.2/BIR): A meta-analysis suggests a role in the polygenic basis of Type II diabetes mellitus in Caucasians. Diabetologia. 1998; 41: 1511-5.
17. Inoue H, Tanizawa Y, Wasson J et al. A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome). Nat Genet. 1998; 20: 143-8.
18. Franks P, Rolandsson O, Debenham S et al. Replication of the association between variants in "WFS1" and risk of type 2 diabetes in European populations. Diabetologia. 2008; 51: 458-63.
19. Fajans SS, Bell GI, Polonsky KS. Molecular mechanisms and clinical pathophysiology of maturity-onset diabetes of the young. N Engl J Med. 2001; 345: 971-80.
20. Winckler W, Weedon MN, Graham RR et al. Evaluation of common variants in the six known maturity-onset diabetes of the young (MODY) genes for association with type 2 diabetes. Diabetes. 2007; 56: 685-93.
21. Lyssenko V, Lupi R, Marchetti P et al. Mechanisms by which common variants in the TCF7L2 gene increase risk of type 2 diabetes. J Clin Invest. 2007; 117: 2155-63.
22. Schäfer S, Tschritter O, Machicao F et al. Impaired glucagon-like peptide-1-induced insulin secretion in carriers of transcription factor 7-like 2 ("TCF7L2") gene polymorphisms. Diabetologia. 2007; 50: 2443-50.
23. Saxena R, Elbers CC, Guo Y et al. Large-scale gene-centric meta-analysis across 39 studies identifies type 2 diabetes loci. Am J Hum Genet. 2012; 90: 410.25.
24. Kathiresan S, Willer CJ, Peloso GM et al. Common variants at 30 loci contribute to polygenic dyslipidemia. Nat Genet. 2009; 41: 56-65.
25. The Wellcome Trust Case Control Consortium. Genome-wide association study of 14000 cases of seven common diseases and 3000 shared controls. Nature. 2007; 447: 661-78.
26. Sladek R, Rocheleau G, Rung J et al. A genome-wide association study identifies novel risk loci for type 2 diabetes. Nature. 2007; 445: 881-5.
27. 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.
28. Staiger H, Machicao F, Stefan N et al. Polymorphisms within novel risk loci for type 2 diabetes determine β-cell function. PLoS ONE. 2007; 2: e832.
29. Boesgaard TW, Žilinskaitė J, Vänttinen M et al. The common SLC30A8 Arg325Trp variant is associated with reduced first-phase insulin release in 846 non-diabetic offspring of type 2 diabetes patients: The EUGENE2 study. Diabetologia. 2008; 51: 816-20.
30. Grarup N, Rose CS, Andersson EA et al. Studies of association of variants near the HHEX, CDKN2A/B, and IGF2BP2 genes with type 2 diabetes and impaired insulin release in 10705 Danish subjects: Validation and extension of genome-wide association studies. Diabetes. 2007; 56: 3105-11.
31. Pascoe L, Tura A, Patel SK et al. Common variants of the novel type 2 diabetes genes CDKAL1 and HHEX/IDE are associated with decreased pancreatic β-cell function. Diabetes. 2007; 56: 3101-4.
32. Dina C, Meyre D, Gallina S et al. Variation in FTO contributes to childhood obesity and severe adult obesity. Nat Genet. 2007; 39: 724-6.
33. Frayling TM, Timpson NJ, Weedon MN 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.
34. 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.
35. Simonis-Bik AM, Nijpels G, van Haeften TW et al. Gene variants in the novel type 2 diabetes loci CDC123/CAMK1D, THADA, ADAMTS9, BCL11A, and MTNR1B affect different aspects of pancreatic β-cell function. Diabetes. 2011; 59: 293-301.
36. Grarup N, Andersen G, Krarup NT et al. Association testing of novel type 2 diabetes risk alleles in the JAZF1, CDC123/CAMK1D, TSPAN8, THADA, ADAMTS9, and NOTCH2 loci with insulin release, insulin sensitivity, and obesity in a population-based sample of 4516 glucose-tolerant middle-aged Danes. Diabetes. 2008; 57: 2534-40.
37. Rung J, Cauchi S, Albrechtsen A et al. Genetic variant near IRS1 is associated with type 2 diabetes, insulin resistance and hyperinsulinemia. Nat Genet. 2009; 41: 1110-5.
38. Bouatia-Naji N, Bonnefond A, Cavalcanti-Proenca C et al. A variant near MTNR1B is associated with increased fasting plasma glucose levels and type 2 diabetes risk. Nat Genet. 2009; 41: 89-94.
39. Lyssenko V, Nagorny CLF, Erdos MR et al. Common variant in MTNR1B associated with increased risk of type 2 diabetes and impaired early insulin secretion. Nat Genet. 2009; 41: 82-8.
40. Prokopenko I, Langenberg C, Florez JC et al. Variants in MTNR1B influence fasting glucose levels. Nat Genet. 2009; 41: 77-81.
41. Boden G, Ruiz J, Urbain JL, Chen X. Evidence for a circadian rhythm of insulin secretion. Am J Physiol. 1996; 271: E246-52.
42. Van Cauter E. Putative roles of melatonin in glucose regulation. Therapie. 1998; 53: 467-72.
43. Peschke E, Frese T, Chankiewitz E et al. Diabetic Goto Kakizaki rats as well as type 2 diabetic patients show a decreased diurnal serum melatonin level and an increased pancreatic melatonin-receptor status. J Pineal Res. 2006; 40: 135-43.
44. 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.
45. Qi L, Cornelis MC, Kraft P et al. Genetic variants at 2q24 are associated with susceptibility to type 2 diabetes. Hum Mol Genet. 2010; 19: 2706-15.
46. Voight BF, Scott LJ, Steinthorsdottir V et al. Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis. Nat Genet. 2010; 42: 579-89.
47. Unoki H, Takahashi A, Kawaguchi T et al. SNPs in KCNQ1 are associated with susceptibility to type 2 diabetes in East Asian and European populations. Nat Genet. 2008; 40: 1098-102.
48. Yasuda K, Miyake K, Horikawa Y et al. Variants in KCNQ1 are associated with susceptibility to type 2 diabetes mellitus. Nat Genet. 2008; 40: 1092-7.
49. Vaxillaire M, Veslot J, Dina C et al. Impact of common type 2 diabetes risk polymorphisms in the DESIR prospective study. Diabetes. 2008; 57: 244-54.
50. Sparsø T, Andersen G, Nielsen T et al. The GCKR rs780094 polymorphism is associated with elevated fasting serum triacylglycerol, reduced fasting and OGTT-related insulinaemia, and reduced risk of type 2 diabetes. Diabetologia. 2008; 51: 70-5.
51. Qi Q, Wu Y, Li H et al. Association of GCKR rs780094, alone or in combination with GCK rs1799884, with type 2 diabetes and related traits in a Han Chinese population. Diabetologia. 2009; 52: 834-43.
52. Xu H, Dembski M, Yang Q et al. Dual specificity mitogen-activated protein (MAP) kinase phosphatase-4 plays a potential role in insulin resistance. J Biol Chem. 2003; 278: 30187.192.
53. Boesgaard TW, Grarup N, Jorgensen T, Borch-Johnsen K, Hansen T, Pedersen O. Variants at DGKB/TMEM195, ADRA2A, GLIS3 and C2CD4B loci are associated with reduced glucose-stimulated beta cell function in middle-aged Danish people. Diabetologia. 2010; 53: 1647-55.
54. Ingelsson E, Langenberg C, Hivert MF et al. Detailed physiologic characterization reveals diverse mechanisms for novel genetic Loci regulating glucose and insulin metabolism in humans. Diabetes. 2010; 59: 1266-75.
55. Nielsen EM, Hansen L, Carstensen B et al. The E23K variant of Kir6.2 associates with impaired post-OGTT serum insulin response and increased risk of type 2 diabetes. Diabetes. 2003; 52: 573-7.
56. Sparso T, Andersen G, Albrechtsen A et al. Impact of polymorphisms in WFS1 on prediabetic phenotypes in a population-based sample of middle-aged people with normal and abnormal glucose regulation. Diabetologia. 2008; 51: 1646-52.
57. Wu Y, Li H, Loos RJ et al. Common variants in CDKAL1, CDKN2A/B, IGF2BP2, SLC30A8, and HHEX/IDE genes are associated with type 2 diabetes and impaired fasting glucose in a Chinese Han population. Diabetes. 2008; 57: 2834-42.
58. Qi Q, Li H, Loos RJF et al. Common variants in KCNQ1 are associated with type 2 diabetes and impaired fasting glucose in a Chinese Han population. Hum Mol Genet. 2009; 18: 3508-15.
59. Orho-Melander M, Melander O, Guiducci C et al. Common missense variant in the glucokinase regulatory protein gene is associated with increased plasma triglyceride and C-reactive protein but lower fasting glucose concentrations. Diabetes. 2008; 57: 3112-21.
60. Boesgaard TW, Gjesing AP, Grarup N et al. Variant near ADAMTS9 known to associate with type 2 diabetes is related to insulin resistance in offspring of type 2 diabetes patients: EUGENE2 study. PLoS ONE. 2009; 4: e7236.
61. Schleinitz D, Tonjes A, Bottcher Y et al. Lack of significant effects of the type 2 diabetes susceptibility loci JAZF1, CDC123/CAMK1D, NOTCH2, ADAMTS9, THADA, and TSPAN8/LGR5 on diabetes and quantitative metabolic traits. Horm Metab Res. 2010; 42: 14-22.
62. Hertel JK, Johansson S, Sonestedt E et al. FTO, type 2 diabetes, and weight gain throughout adult life. Diabetes. 2011; 60: 1637-44.
63. Li H, Kilpeläinen T, Liu C et al. Association of genetic variation in FTO with risk of obesity and type 2 diabetes with data from 96551 East and South Asians. Diabetologia. 2012; 55: 981-95.
64. Chimienti F, Favier A, Seve M. ZnT-8, a pancreatic beta-cell-specific zinc transporter. Biometals. 2005; 18: 313-7.
65. Andersson E, Pilgaard K, Pisinger C et al. Type 2 diabetes risk alleles near ADCY5, CDKAL1, and HHEX-IDE are associated with reduced birthweight. Diabetologia. 2010; 53: 1908-16.
66. Freathy RM, Mook-Kanamori DO, Sovio U et al. Variants in ADCY5 and near CCNL1 are associated with fetal growth and birth weight. Nat Genet. 2010; 42: 430-5.
67. Harder T, Rodekamp E, Schellong K, Dudenhausen JW, Plagemann A. Birth weight and subsequent risk of type 2 diabetes: A meta-analysis. Am J Epidemiol. 2007; 165: 849-57.
68. Lyssenko V, Jonsson A, Almgren P et al. Clinical risk factors, DNA variants, and the development of type 2 diabetes. N Engl J Med. 2008; 359: 2220-32.
69. Meigs JB, Shrader P, Sullivan LM et al. Genotype score in addition to common risk factors for prediction of type 2 diabetes. N Engl J Med. 2008; 359: 2208-19.
70. Cauchi SP, Meyre D, Durand E et al. Post Genome-wide association studies of novel genes associated with type 2 diabetes show gene-gene interaction and high predictive value. PLoS ONE. 2008; 3: e2031.
71. Lango H, Palmer CNA, Morris AD et al. Assessing the combined impact of 18 common genetic variants of modest effect sizes on type 2 diabetes risk. Diabetes. 2008; 57: 3129-35.
72. van Hoek M, Dehghan A, Witteman JCM et al. Predicting type 2 diabetes based on polymorphisms from genome-wide association studies. Diabetes. 2008; 57: 3122-8.
73. Cornelis MC, Qi L, Zhang C et al. Joint effects of common genetic variants on the risk for type 2 diabetes in U.S. men and women of European ancestry. Ann Intern Med. 2009; 150: 541-50.
74. Sparsø T, Grarup N, Andreasen C et al. Combined analysis of 19 common validated type 2 diabetes susceptibility gene variants shows moderate discriminative value and no evidence of gene-gene interaction. Diabetologia. 2009; 52: 1308-14.
75. Qi Q, Li H, Wu Y et al. Combined effects of 17 common genetic variants on type 2 diabetes risk in a Han Chinese population. Diabetologia. 2010; 53: 2163-6.
76. Janipalli CS, Kumar MVK, Vinay DG et al. Analysis of 32 common susceptibility genetic variants and their combined effect in predicting risk of Type 2 diabetes and related traits in Indians. Diabet Med. 2012; 29: 121-7.
77. Xu M, Bi Y, Xu Y et al. Combined effects of 19 common variations on type 2 diabetes in Chinese: Results from two community-based studies. PLoS ONE. 2010; 5: e14022.
78. Qi L, Cornelis MC, Zhang C, van Dam RM, Hu FB. Genetic predisposition, Western dietary pattern, and the risk of type 2 diabetes in men. Am J Clin Nutr. 2009; 89: 1453-8.
79. Cornelis MC, Qi L, Kraft P, Hu FB. TCF7L2, dietary carbohydrate, and risk of type 2 diabetes in US women. Am J Clin Nutr. 2009; 89: 1256-62.
80. Kanoni S, Nettleton JA, Hivert M-F et al. Total zinc intake may modify the glucose-raising effect of a zinc transporter (SLC30A8) variant. Diabetes. 2011; 60: 2407-16.
81. Nettleton JA, McKeown NM, Kanoni S et al. Interactions of dietary whole-grain intake with fasting glucose- and insulin-related genetic loci in individuals of European descent. Diabetes Care. 2011; 33: 2684-91.
82. Lamri A, Abi Khalil C, Jaziri R et al. Dietary fat intake and polymorphisms at the PPARG locus modulate BMI and type 2 diabetes risk in the D.E.S.I.R. prospective study. Int J Obes. 2012; 36: 218-24.
83. de Rooij SR, Painter RC, Phillips DIW et al. The effects of the Pro12Ala polymorphism of the peroxisome proliferator-activated receptor gamma 2 gene on glucose/insulin metabolism interact with prenatal exposure to famine. Diabetes Care. 2006; 29: 1052-7.
84. Pulizzi N, Lyssenko V, Jonsson A et al. Interaction between prenatal growth and high-risk genotypes in the development of type 2 diabetes. Diabetologia. 2009; 52: 825-9.
85. van Hoek M, Langendonk JG, de Rooij SR, Sijbrands EJG, Roseboom TJ. Genetic variant in the IGF2BP2 gene may interact with fetal malnutrition to affect glucose metabolism. Diabetes. 2009; 58: 1440-4.
86. Hales CN, Barker DJP. The thrifty phenotype hypothesis. Br Med Bull. 2001; 60: 5-20.
87. Cornelis MC, Hu FB. Gene-environment interactions in the development of type 2 diabetes: Recent progress and continuing challenges. Annu Rev Nutr. 2012; 32: 17.