Current Insights into the Joint Genetic Basis of Type 2 Diabetes and Coronary Heart Disease

Current Cardiovascular Risk Reports

Volumn 8, Issue 1, 2014, Pages 1-12

  Dauriz, Marco ^a,b,c   Meigs, James B ^a,b  

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

^b HARVARD MEDICAL SCHOOL   (United States)

^c UNIVERSITY HOSPITAL OF VERONA   (Italy)

Author keywords

Cardiovascular disease; Genetic risk; Glucose homeostasis; Insulin resistance; Type 2 diabetes

Indexed keywords

CARDIOVASCULAR RISK; CHROMOSOME 9P; GENETIC ASSOCIATION; GENETIC RISK; HUMAN; INSULIN RESISTANCE; ISCHEMIC HEART DISEASE; META ANALYSIS (TOPIC); NON INSULIN DEPENDENT DIABETES MELLITUS; PHENOTYPE; PLEIOTROPY; REVIEW; SINGLE NUCLEOTIDE POLYMORPHISM;

EID: 84894041650     PISSN: 19329520     EISSN: 19329563     Source Type: Journal    
DOI: 10.1007/s12170-013-0368-z     Document Type: Review

References (49)

1. IDF. IDF Diabetes Atlas 5th ed. 2011; Available from: http://www. idf. org/diabetesatlas.
2. WHO, Global Atlas on Cardiovascular Disease Prevention and Control., ed. P. P. Mendis S, Norrving B editors, Geneva, Switzerland.
3. WHO, World Health Statistics, Geneva, Switzerland: World Health Organization.
4. Stranger BE, Stahl EA, Raj T. Progress and promise of genome-wide association studies for human complex trait genetics. Genetics. 2011;187(2): 367-83.
5. Broadbent HM et al. Susceptibility to coronary artery disease and diabetes is encoded by distinct, tightly linked SNPs in the ANRIL locus on chromosome 9p. Hum Mol Genet. 2008;17(6): 806-14.
6. Cheng X et al. The same chromosome 9p21. 3 locus is associated with type 2 diabetes and coronary artery disease in a Chinese Han population. Diabetes. 2011;60(2): 680-4.
7. Gori F et al. Common genetic variants on chromosome 9p21 are associated with myocardial infarction and type 2 diabetes in an Italian population. BMC Med Genet. 2010;11: 60.
8. Silander K et al. Worldwide patterns of haplotype diversity at 9p21. 3, a locus associated with type 2 diabetes and coronary heart disease. Genome Med. 2009;1(5): 51.
9. Zeggini E et al. Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes. Science. 2007;316(5829): 1336-41.
10. Bacci S et al. Joint effect of insulin signaling genes on cardiovascular events and on whole body and endothelial insulin resistance. Atherosclerosis. 2013;226(1): 140-5.
11. Samani NJ et al. Genomewide association analysis of coronary artery disease. N Engl J Med. 2007;357(5): 443-53.
12. Scott RA et al. Large-scale association analyses identify new loci influencing glycemic traits and provide insight into the underlying biological pathways. Nat Genet. 2012;44(9): 991-1005. Provides the most updated data on the genetic architecture of glycaemic traits.
13. Rung J et al. Genetic variant near IRS1 is associated with type 2 diabetes, insulin resistance and hyperinsulinemia. Nat Genet. 2009;41(10): 1110-5.
14. Morris AP et al. Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes. Nat Genet. 2012;44(9): 981-90. Provides the most updated data on the genetic architecture of T2D.
15. Consortium CAD et al. Large-scale association analysis identifies new risk loci for coronary artery disease. Nat Genet. 2013;45(1): 25-33. Provides the most updated data on the genetic architecture of CHD.
16. Cho YS et al. Meta-analysis of genome-wide association studies identifies eight new loci for type 2 diabetes in east Asians. Nat Genet. 2012;44(1): 67-72.
17. Zeggini E 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(5): 638-45.
18. Voight BF et al. The metabochip, a custom genotyping array for genetic studies of metabolic, cardiovascular, and anthropometric traits. PLoS Genet. 2012;8(8): e1002793.
19. Peden JF, Farrall M. Thirty-five common variants for coronary artery disease: the fruits of much collaborative labour. Hum Mol Genet. 2011;20(R2): R198-205.
20. Reich DE, Lander ES. On the allelic spectrum of human disease. Trends Genet. 2001;17(9): 502-10.
21. Manolio TA. Bringing genome-wide association findings into clinical use. Nat Rev Genet. 2013;14(8): 549-58.
22. Manning AK et al. A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance. Nat Genet. 2012;44(6): 659-69. Provides the most updated data on the genetic architecture of glycaemic traits.
23. Dupuis J et al. New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk. Nat Genet. 2010;42(2): 105-16.
24. Saxena R et al. Genetic variation in GIPR influences the glucose and insulin responses to an oral glucose challenge. Nat Genet. 2010;42(2): 142-8.
25. Kilpelainen TO et al. Genetic variation near IRS1 associates with reduced adiposity and an impaired metabolic profile. Nat Genet. 2011;43(8): 753-60.
26. Teslovich TM et al. Biological, clinical and population relevance of 95 loci for blood lipids. Nature. 2010;466(7307): 707-13.
27. Li G et al. Extensive promoter-centered chromatin interactions provide a topological basis for transcription regulation. Cell. 2012;148(1-2): 84-98.
28. DeFronzo RA. Insulin resistance, lipotoxicity, type 2 diabetes and atherosclerosis: the missing links. The Claude Bernard Lecture 2009. Diabetologia. 2010;53(7): 1270-87.
29. Lim S et al. Common variants in and near IRS1 and subclinical cardiovascular disease in the Framingham Heart Study. Atherosclerosis. 2013;229(1): 149-54.
30. Murabito JM et al. Association between chromosome 9p21 variants and the ankle-brachial index identified by a meta-analysis of 21 genome-wide association studies. Circ Cardiovasc Genet. 2012;5(1): 100-12.
31. Helgadottir A et al. A common variant on chromosome 9p21 affects the risk of myocardial infarction. Science. 2007;316(5830): 1491-3.
32. Fan M et al. Two chromosome 9p21 haplotype blocks distinguish between coronary artery disease and myocardial infarction risk. Circ Cardiovasc Genet. 2013;6(4): 372-80.
33. McPherson, R., Chromosome 9p21. 3 Locus for CAD: How little we know. J Am Coll Cardiol, 2013.
34. McPherson R, Davies RW. Inflammation and coronary artery disease: insights from genetic studies. Can J Cardiol. 2012;28(6): 662-6.
35. Harismendy O et al. 9p21 DNA variants associated with coronary artery disease impair interferon-gamma signalling response. Nature. 2011;470(7333): 264-8.
36. Almontashiri NA et al. Interferon-gamma activates expression of p15 and p16 regardless of 9p21. 3 coronary artery disease risk genotype. J Am Coll Cardiol. 2013;61(2): 143-7.
37. Solovieff N et al. Pleiotropy in complex traits: challenges and strategies. Nat Rev Genet. 2013;14(7): 483-95.
38. •Wray NR et al. Pitfalls of predicting complex traits from SNPs. Nat Rev Genet. 2013;14(7): 507-15. Provides a general sense in designing, interpretation and future projection of studies in the field of human complex traits genetics.
39. Qi Q et al. Diabetes genetic predisposition score and cardiovascular complications among patients with type 2 diabetes. Diabetes Care. 2013;36(3): 737-9.
40. Doria A et al. Interaction between poor glycemic control and 9p21 locus on risk of coronary artery disease in type 2 diabetes. JAMA. 2008;300(20): 2389-97.
41. Qi L et al. Association between a genetic variant related to glutamic acid metabolism and coronary heart disease in individuals with type 2 diabetes. JAMA. 2013;310(8): 821-8.
42. Zaitlen N et al. Using extended genealogy to estimate components of heritability for 23 quantitative and dichotomous traits. PLoS Genet. 2013;9(5): e1003520.
43. •Chatterjee N et al. Projecting the performance of risk prediction based on polygenic analyses of genome-wide association studies. Nat Genet. 2013;45(4): 400-5. Provides a general sense in designing, interpretation and future projection of studies in the field of human complex traits genetics. 405e1-3.
44. •Goldstein DB et al. Sequencing studies in human genetics: design and interpretation. Nat Rev Genet. 2013;14(7): 460-70. Provides a general sense in designing, interpretation and future projection of studies in the field of human complex traits genetics.
45. Morini E et al. IRS1 G972R polymorphism and type 2 diabetes: a paradigm for the difficult ascertainment of the contribution to disease susceptibility of 'low-frequency-low-risk' variants. Diabetologia. 2009;52(9): 1852-7.
46. Trombetta M et al. PPARG2 Pro12Ala and ADAMTS9 rs4607103 as "insulin resistance loci" and "insulin secretion loci" in Italian individuals. The GENFIEV study and the Verona Newly Diagnosed Type 2 Diabetes Study (VNDS) 4. Acta Diabetol. 2013;50(3): 401-8.
47. Frazer KA et al. Human genetic variation and its contribution to complex traits. Nat Rev Genet. 2009;10(4): 241-51.
48. Bush WS, Moore JH. Chapter 11: Genome-wide association studies. PLoS Comput Biol. 2012;8(12): e1002822.
49. Johnson AD et al. SNAP: a web-based tool for identification and annotation of proxy SNPs using HapMap. Bioinformatics. 2008;24(24): 2938-9.