Candidate gene association study for diabetic retinopathy in persons with type 2 diabetes: The candidate gene association resource (CARe)

Investigative Ophthalmology and Visual Science

Volumn 52, Issue 10, 2011, Pages 7593-7602

  Sobrin, Lucia ^a   Green, Todd ^b,c   Sim, Xueling ^d   Jensen, Richard A ^e   Shyong Tai, E ^d   Tay, Wan Ting ^f   Wang, Jie Jin ^g,h   Mitchell, Paul ^g   Sandholm, Niina ^i,j   Liu, Yiyuan ^k   Hietala, Kustaa ^j,l   Iyengar, Sudha K ^m   Brooks, Matthew ⁿ   Buraczynska, Monika ^o   van Zuydam, Natalie ^k   Smith, Albert V ^p,q   Gudnason, Vilmundur ^p,q   Doney, Alex S F ^r   Morris, Andrew D ^r   Leese, Graham P ^r   Palmer, Colin N A ^k   Swaroop, Anand ⁿ   Taylor Jr , Herman A ^s   Wilson, James G ^s   Penman, Alan ^s,t   Chen, Ching J ^s   Groop, Per Henrik ^i,j   Saw, Seang Mei ^d   Aung, Tin ^d,f   Klein, Barbara E ^u   Rotter, Jerome I ^v   Siscovick, David S ^e   Cotch, Mary Frances ^w   Klein, Ronald ^u   Daly, Mark J ^b,c   Wong, Tien Y ^d,f,h   more..

^a MASSACHUSETTS EYE AND EAR INFIRMARY   (United States)

^b BROAD INSTITUTE OF MIT AND HARVARD   (United States)

^c MASSACHUSETTS GENERAL HOSPITAL   (United States)

^d NATIONAL UNIVERSITY OF SINGAPORE   (Singapore)

^e UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^f SINGAPORE EYE RESEARCH INSTITUTE   (Singapore)

^g UNIVERSITY OF SYDNEY   (Australia)

^h UNIVERSITY OF MELBOURNE   (Australia)

ⁱ UNIVERSITY OF HELSINKI   (Finland)

^j FOLKHÄLSAN INSTITUTE OF GENETICS   (Finland)

^k UNIVERSITY OF DUNDEE   (United Kingdom)

^l HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

^m CASE WESTERN RESERVE UNIVERSITY   (United States)

ⁿ NATIONAL INSTITUTES OF HEALTH   (United States)

^o MEDICAL UNIVERSITY OF LUBLIN   (Poland)

^p ICELANDIC HEART ASSOCIATION   (Iceland)

^q UNIVERSITY OF ICELAND   (Iceland)

^r UNIVERSITY OF DUNDEE   (United Kingdom)

^s UNIVERSITY OF MISSISSIPPI SCHOOL OF MEDICINE   (United States)

^t UNIVERSITY OF MISSISSIPPI MEDICAL CENTER   (United States)

^u UNIVERSITY OF WISCONSIN SCHOOL OF MEDICINE AND PUBLIC HEALTH   (United States)

^v CEDARS SINAI MEDICAL CENTER   (United States)

^w NATIONAL EYE INSTITUTE   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

PADGEM PROTEIN; LEVO IDURONIDASE;

ARTICLE; CONTROLLED STUDY; DIABETIC NEPHROPATHY; DIABETIC RETINOPATHY; EUROPEAN AMERICAN; EYE FUNDUS; EYE PHOTOGRAPHY; GENE FREQUENCY; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENOTYPE; GENOTYPING TECHNIQUE; HUMAN; MAJOR CLINICAL STUDY; NON INSULIN DEPENDENT DIABETES MELLITUS; PREVALENCE; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; CARDIOVASCULAR DISEASE; GENETIC PREDISPOSITION; GENETICS; RISK; RISK FACTOR;

CARDIOVASCULAR DISEASES; DIABETES MELLITUS, TYPE 2; DIABETIC NEPHROPATHIES; DIABETIC RETINOPATHY; GENETIC PREDISPOSITION TO DISEASE; GENOME-WIDE ASSOCIATION STUDY; GENOTYPE; HUMANS; IDURONIDASE; ODDS RATIO; P-SELECTIN; POLYMORPHISM, SINGLE NUCLEOTIDE; RISK FACTORS;

EID: 84863495420     PISSN: 01460404     EISSN: 15525783     Source Type: Journal    
DOI: 10.1167/iovs.11-7510     Document Type: Article

References (68)

1. National Institute of Diabetes and Digestive and Kidney Diseases. National diabetes statistics fact sheet: general information and national estimates on diabetes in the United States. 2000. Bethesda, MD: U.S. Department of Health and Human Services, National Institute of Health, Publication No. 02-3892.
2. Klein R, Klein BE, Moss SE, Cruickshanks KJ. The Wisconsin Epidemiologic Study of Diabetic Retinopathy, XVII: The 14-year incidence and progression of diabetic retinopathy and associated risk factors in type 1 diabetes. Ophthalmology. 1998;105:1801-1815.
3. Klein BE. Overview of epidemiologic studies of diabetic retinopathy. Ophthalmic Epidemiol. 2007;14:179-183.
4. Cheung N, Mitchell P, Wong TY. Diabetic retinopathy. Lancet. 2010;376:124-136.
5. Zhang X, Saaddine JB, Chou CF, et al. Prevalence of diabetic retinopathy in the United States, 2005-2008. JAMA. 2010;304: 649-656.
6. Nathan DM. Long-term complications of diabetes mellitus. N Engl J Med. 1993;328:1676-1685.
7. Klein R, Klein BE, Moss SE, Cruickshanks KJ. Relationship of hyperglycemia to the long-term incidence and progression of diabetic retinopathy. Arch Intern Med. 1994;154:2169-2178.
8. Looker HC, Nelson RG, Chew E, et al. Genome-wide linkage analyses to identify loci for diabetic retinopathy. Diabetes. 2007;56:1160-1166.
9. Hietala K, Forsblom C, Summanen P, Groop PH. Heritability of proliferative diabetic retinopathy. Diabetes. 2008;57:2176-2180.
10. Arar NH, Freedman BI, Adler SG, et al. Heritability of the severity of diabetic retinopathy: the FIND-Eye study. Invest Ophthalmol Vis Sci. 2008;49:3839-3845.
11. Abhary S, Hewitt AW, Burdon KP, Craig JE. A systematic metaanalysis of genetic association studies for diabetic retinopathy. Diabetes. 2009;58:2137-2147.
12. Liew G, Klein R, Wong TY. The role of genetics in susceptibility to diabetic retinopathy. Int Ophthalmol Clin. 2009;49:35-52.
13. Lohmueller KE, Pearce CL, Pike M, Lander ES, Hirschhorn JN. Meta-analysis of genetic association studies supports a contribution of common variants to susceptibility to common disease. Nat Genet. 2003;33:177-182.
14. Hirschhorn JN, Lohmueller K, Byrne E, Hirschhorn K. A comprehensive review of genetic association studies. Genet Med. 2002;4: 45-61.
15. Kottgen A, Hwang SJ, Rampersaud E, et al. TCF7L2 variants associate with CKD progression and renal function in populationbased cohorts. J Am Soc Nephrol. 2008;19:1989-1999.
16. Krentz AJ, Clough G, Byrne CD. Interactions between microvascular and macrovascular disease in diabetes: pathophysiology and therapeutic implications. Diabetes Obes Metab. 2007;9:781-791.
17. Ohno T, Kinoshita O, Fujita H, et al. Detecting occult coronary artery disease followed by early coronary artery bypass surgery in patients with diabetic retinopathy: report from a diabetic retinocoronary clinic. J Thorac Cardiovasc Surg. 2010;139:92-97.
18. Kofler B, Mueller EE, Eder W, et al. Mitochondrial DNA haplogroup T is associated with coronary artery disease and diabetic retinopathy: a case control study. BMC Med Genet. 2009;10:35.
19. Holman RR, Paul SK, Bethel MA, Matthews DR, Neil HA. 10-year follow-up of intensive glucose control in type 2 diabetes. N Engl J Med. 2008;359:1577-1589.
20. Cheung N, Wong TY. Diabetic retinopathy and systemic vascular complications. Prog Retin Eye Res. 2008;27:161-176.
21. Kawasaki R, Cheung N, Islam FM, et al. Is diabetic retinopathy related to subclinical cardiovascular disease? Ophthalmology. 2011;118:860-865.
22. Musunuru K, Lettre G, Young T, et al. Candidate gene association resource (CARe): design, methods, and proof of concept. Circ Cardiovasc Genet. 2010;3:267-275.
23. Keating BJ, Tischfield S, Murray SS, et al. Concept, design and implementation of a cardiovascular gene-centric 50 k SNP array for large-scale genomic association studies. PLoS One. 2008;3:e3583.
24. Uhlmann K, Kovacs P, Boettcher Y, Hammes HP, Paschke R. Genetics of diabetic retinopathy. Exp Clin Endocrinol Diabetes. 2006;114:275-294.
25. Tong Z, Yang Z, Patel S, et al. Promoter polymorphism of the erythropoietin gene in severe diabetic eye and kidney complications. Proc Natl Acad Sci U S A. 2008;105:6998-7003.
26. Ng DP, Tai BC, Lim XL. Is the presence of retinopathy of practical value in defining cases of diabetic nephropathy in genetic association studies?-the experience with the ACE insertion/deletion polymorphism in 53 studies comprising 17,791 subjects. Diabetes. 2008;57:2541-2546.
27. Freedman BI, Bostrom M, Daeihagh P, Bowden DW. Genetic factors in diabetic nephropathy. Clin J Am Soc Nephrol. 2007;2: 1306-1316.
28. Frayling TM. Genome-wide association studies provide new insights into type 2 diabetes aetiology. Nat Rev Genet. 2007;8:657-662.
29. Sladek R, Rocheleau G, Rung J, et al. A genome-wide association study identifies novel risk loci for type 2 diabetes. Nature. 2007;445:881-885.
30. Saxena R, Voight BF, Lyssenko V, et al. Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels. Science. 2007;316:1331-1336.
31. 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;316:889-894.
32. 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;40:638-645.
33. Sandhu MS, Weedon MN, Fawcett KA, et al. Common variants in WFS1 confer risk of type 2 diabetes. Nat Genet. 2007;39:951-953.
34. 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;56:685-693.
35. Bild DE, Bluemke DA, Burke GL, et al. Multi-ethnic study of atherosclerosis: objectives and design. Am J Epidemiol. 2002;156: 871-881.
36. The Atherosclerosis Risk in Communities (ARIC) Study: design and objectives. The ARIC investigators. Am J Epidemiol. 1989;129: 687-702.
37. Fried LP, Borhani NO, Enright P, et al. The Cardiovascular Health Study: design and rationale. Ann Epidemiol. 1991;1:263-276.
38. Wilson JG, Rotimi CN, Ekunwe L, et al. Study design for genetic analysis in the Jackson Heart Study. Ethn Dis. 2005;15:S6-30-37.
39. Report of the expert committee on the diagnosis and classification of diabetes mellitus. Diabetes Care 2003;26(suppl 1):S5-S20.
40. Wong TY, Klein R, Islam FM, et al. Diabetic retinopathy in a multi-ethnic cohort in the United States. Am J Ophthalmol. 2006;141:446-455.
41. Cheung N, Wang JJ, Rogers SL, et al. Diabetic retinopathy and risk of heart failure. J Am Coll Cardiol. 2008;51:1573-1578.
42. Klein R, Marino EK, Kuller LH, et al. The relation of atherosclerotic cardiovascular disease to retinopathy in people with diabetes in the Cardiovascular Health Study. Br J Ophthalmol. 2002;86:84-90.
43. Diabetic retinopathy study. Report Number 6. Design, methods, and baseline results. Report Number 7. A modification of the Airlie House classification of diabetic retinopathy. Prepared by the Diabetic Retinopathy. Invest Ophthalmol Vis Sci 1981;21:1-226.
44. Ojaimi E, Nguyen TT, Klein R, et al. Retinopathy signs in people without diabetes the multi-ethnic study of atherosclerosis. Ophthalmology. 2011;118:656-662.
45. Colagiuri S, Lee CM, Wong TY, Balkau B, Shaw JE, Borch-Johnsen K. Glycemic thresholds for diabetes-specific retinopathy: implications for diagnostic criteria for diabetes. Diabetes Care. 2011;34: 145-150.
46. Wong TY, Liew G, Tapp RJ, et al. Relation between fasting glucose and retinopathy for diagnosis of diabetes: three population-based cross-sectional studies. Lancet. 2008;371:736-743.
47. Guillausseau PJ, Massin P, Charles MA, et al. Glycaemic control and development of retinopathy in type 2 diabetes mellitus: a longitudinal study. Diabet Med. 1998;15:151-155.
48. Stratton IM, Kohner EM, Aldington SJ, et al. UKPDS 50: risk factors for incidence and progression of retinopathy in type II diabetes over 6 years from diagnosis. Diabetologia. 2001;44:156-163.
49. Tight blood pressure control and risk of macrovascular and microvascular complications in type 2 diabetes: UKPDS 38. UK Prospective Diabetes Study Group. BMJ. 1998;317:703-713.
50. Ferris FL 3rd, Chew EY, Hoogwerf BJ. Serum lipids and diabetic retinopathy. Early Treatment Diabetic Retinopathy Study Research Group. Diabetes Care. 1996;19:1291-1293.
51. Cochran WG. Some methods for strengthening the common X2 tests. Biometrics. 1954;10:417-451.
52. Mantel N, Haenszel W. Statistical aspects of the analysis of data from retrospective studies of disease. J Natl Cancer Inst. 1959;22: 719-748.
53. Tobin MD, Sheehan NA, Scurrah KJ, Burton PR. Adjusting for treatment effects in studies of quantitative traits: antihypertensive therapy and systolic blood pressure. Stat Med. 2005;24:2911-2935.
54. Purcell S, Neale B, Todd-Brown K, et al. PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet. 2007;81:559-575.
55. Qiu C, Cotch MF, Sigurdsson S, et al. Retinal and cerebral microvascular signs and diabetes: the age, gene/environment susceptibility-Reykjavik study. Diabetes. 2008;57:1645-1650.
56. Mitchell P, Smith W, Wang JJ, Attebo K. Prevalence of diabetic retinopathy in an older community. The Blue Mountains Eye Study. Ophthalmology. 1998;105:406-411.
57. Doney AS, Leese GP, Olson J, Morris AD, Palmer CN. The Y402H variant of complement factor H is associated with age-related macular degeneration but not with diabetic retinal disease in the Go-DARTS study. Diabet Med. 2009;26:460-465.
58. Wong TY, Cheung N, Tay WT, et al. Prevalence and risk factors for diabetic retinopathy: the Singapore Malay Eye Study. Ophthalmology. 2008;115:1869-1875.
59. Yim-Lui Cheung C, Wong TY, Lamoureux EL, et al. C-reactive protein and retinal microvascular caliber in a multiethnic Asian population. Am J Epidemiol. 2010;171:206-213.
60. Buraczynska M, Baranowicz-Gaszczyk I, Tarach J, Ksiazek A. Tolllike receptor 4 gene polymorphism and early onset of diabetic retinopathy in patients with type 2 diabetes. Hum Immunol. 2009;70:121-124.
61. Cochran WG. Problems arising in the analysis of a series of similar experiments. J R Stat Soc. 1937;4:102-118.
62. Cochran WG. The combination of estimates from different experiments. Biometrics. 1954;10:101-129.
63. Pe'er I, Yelensky R, Altshuler D, Daly MJ. Estimation of the multiple testing burden for genomewide association studies of nearly all common variants. Genet Epidemiol. 2008;32:381-385.
64. Liu Y, Burdon KP, Langefeld CD, et al. P-selectin gene haplotype associations with albuminuria in the Diabetes Heart Study. Kidney Int. 2005;68:741-746.
65. Tedder TF, Steeber DA, Chen A, Engel P. The selectins: vascular adhesion molecules. FASEB J. 1995;9:866-873.
66. Freathy RM, Timpson NJ, Lawlor DA, et al. Common variation in the FTO gene alters diabetes-related metabolic traits to the extent expected given its effect on BMI. Diabetes. 2008;57:1419-1426.
67. Abhary S, Burdon KP, Casson RJ, Goggin M, Petrovsky NP, Craig JE. Association between erythropoietin gene polymorphisms and diabetic retinopathy. Arch Ophthalmol. 2010;128:102-106.
68. Kraft P. Curses-winner's and otherwise-in genetic epidemiology. Epidemiology. 19:649-651, 2008; discussion 57-58.