Genome-Wide Association Study of Retinopathy in Individuals without Diabetes

PLoS ONE

Volumn 8, Issue 2, 2013, Pages

  Jensen, Richard A ^a,b   Sim, Xueling ^c   Li, Xiaohui ^d   Cotch, Mary Frances ^e   Ikram, M Kamran ^f,g   Holliday, Elizabeth G ^h   Eiriksdottir, Gudny ⁱ   Harris, Tamara B ^j   Jonasson, Fridbert ^k,l   Klein, Barbara E K ^m   Launer, Lenore J ^j   Smith, Albert Vernon ^i,k   Boerwinkle, Eric ⁿ   Cheung, Ning ^o   Hewitt, Alex W ^o   Liew, Gerald ^o,p   Mitchell, Paul ^p   Wang, Jie Jin ^o,p   Attia, John ^h,q   Scott, Rodney ^r   Glazer, Nicole L ^s   Lumley, Thomas ^a,t   McKnight, Barbara ^a,b   Psaty, Bruce M ^a,b,u   Taylor, Kent ^d   Hofman, Albert ^g   de Jong, Paulus T V M ^v,w   Rivadeneira, Fernando ^g   Uitterlinden, Andre G ^g   Tay, Wan Ting ^f   Teo, Yik Ying ^c,x   Seielstad, Mark ^y   Liu, Jianjun ^x   Cheng, Ching Yu ^c,f   Saw, Seang Mei ^c,f   Aung, Tin ^c,f   Ganesh, Santhi K ^z   O'Donnell, Christopher J ^aa,ab,ac   Nalls, Mike A ^j   Wiggins, Kerri L ^a,b   Kuo, Jane Z ^d   van Duijn, Cornelia M ^g   Gudnason, Vilmundur ^i,k   Klein, Ronald ^m   Siscovick, David S ^a,b   Rotter, Jerome I ^d   Tai, E Shong ^c,ad   Vingerling, Johannes ^g   Wong, Tien Y ^c,f,o   more..

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

^b UNIVERSITY OF WASHINGTON   (United States)

^c NATIONAL UNIVERSITY OF SINGAPORE   (Singapore)

^d CEDARS SINAI MEDICAL CENTER   (United States)

^e NATIONAL EYE INSTITUTE   (United States)

^f SINGAPORE EYE RESEARCH INSTITUTE   (Singapore)

^g ERASMUS MEDICAL CENTER   (Netherlands)

^h UNIVERSITY OF NEWCASTLE   (Australia)

ⁱ ICELANDIC HEART ASSOCIATION   (Iceland)

^j NATIONAL INSTITUTE ON AGING   (United States)

^k UNIVERSITY OF ICELAND   (Iceland)

^l LANDSPITALI UNIVERSITY HOSPITAL   (Iceland)

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

ⁿ UNIVERSITY OF TEXAS MEDICAL SCHOOL   (United States)

^o UNIVERSITY OF MELBOURNE   (Australia)

^p UNIVERSITY OF SYDNEY   (Australia)

^q HUNTER MEDICAL RESEARCH INSTITUTE   (Australia)

^r UNIVERSITY OF NEWCASTLE   (Australia)

^s BOSTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^t UNIVERSITY OF AUCKLAND   (New Zealand)

^u CENTER FOR HEALTH STUDIES   (United States)

^v NETHERLANDS INSTITUTE FOR NEUROSCIENCE   (Netherlands)

^w ACADEMIC MEDICAL CENTER   (Netherlands)

^x GENOME INSTITUTE OF SINGAPORE   (Singapore)

^y UNIVERSITY OF CALIFORNIA   (United States)

^z UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

^aa FRAMINGHAM HEART STUDY   (United States)

^ab NATIONAL HEART LUNG AND BLOOD INSTITUTE   (United States)

^ac MASSACHUSETTS GENERAL HOSPITAL   (United States)

^ad DUKE NUS MEDICAL SCHOOL   (Singapore)

more..

Author keywords

[No Author keywords available]

Indexed keywords

HISTONE DEACETYLASE; HDAC9 PROTEIN, HUMAN; REPRESSOR PROTEIN;

ADULT; AGED; ARTICLE; BODY MASS; CAUCASIAN; CHROMOSOME 7; DIASTOLIC BLOOD PRESSURE; FEMALE; GENE FREQUENCY; GENE MAPPING; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENOTYPE ENVIRONMENT INTERACTION; HISTONE DEACETYLASE 9 GENE; HUMAN; HYPERTENSION; MAJOR CLINICAL STUDY; MALE; OUTCOME ASSESSMENT; PHENOTYPE; RETINOPATHY; SINGLE NUCLEOTIDE POLYMORPHISM; SYSTOLIC BLOOD PRESSURE; GENETICS; GENOTYPE; PROCEDURES; RETINA DISEASE; VERY ELDERLY;

AGED; AGED, 80 AND OVER; FEMALE; GENOME-WIDE ASSOCIATION STUDY; GENOTYPE; HISTONE DEACETYLASES; HUMANS; HYPERTENSION; MALE; POLYMORPHISM, SINGLE NUCLEOTIDE; REPRESSOR PROTEINS; RETINAL DISEASES;

EID: 84873503356     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0054232     Document Type: Article

References (52)

1. Klein R, Klein BE, Moss SE, Wong TY, (2006) The relationship of retinopathy in persons without diabetes to the 15-year incidence of diabetes and hypertension: Beaver Dam Eye Study. Trans Am Ophthalmol Soc 104: 98-107.
2. Klein R, Myers CE, Lee KE, Klein BE, (2010) 15-year cumulative incidence and associated risk factors for retinopathy in nondiabetic persons. Arch Ophthalmol 128: 1568-1575.
3. Wong TY, Klein R, Klein BE, Tielsch JM, Hubbard L, et al. (2001) Retinal microvascular abnormalities and their relationship with hypertension, cardiovascular disease, and mortality. Surv Ophthalmol 46: 59-80.
4. Grosso A, Cheung N, Veglio F, Wong TY, (2011) Similarities and differences in early retinal phenotypes in hypertension and diabetes. J Hypertens 29: 1667-1675.
5. Singleton JR, Smith AG, Russell JW, Feldman EL, (2003) Microvascular complications of impaired glucose tolerance. Diabetes 52: 2867-2873.
6. van Hecke MV, Dekker JM, Nijpels G, Moll AC, Heine RJ, et al. (2005) Inflammation and endothelial dysfunction are associated with retinopathy: the Hoorn Study. Diabetologia 48: 1300-1306.
7. van Leiden HA, Dekker JM, Moll AC, Nijpels G, Heine RJ, et al. (2002) Blood pressure, lipids, and obesity are associated with retinopathy: the hoorn study. Diabetes Care 25: 1320-1325.
8. Wong TY, Barr EL, Tapp RJ, Harper CA, Taylor HR, et al. (2005) Retinopathy in persons with impaired glucose metabolism: the Australian Diabetes Obesity and Lifestyle (AusDiab) study. Am J Ophthalmol 140: 1157-1159.
9. Wong TY, Duncan BB, Golden SH, Klein R, Couper DJ, et al. (2004) Associations between the metabolic syndrome and retinal microvascular signs: the Atherosclerosis Risk In Communities study. Invest Ophthalmol Vis Sci 45: 2949-2954.
10. Edwards MS, Wilson DB, Craven TE, Stafford J, Fried LF, et al. (2005) Associations between retinal microvascular abnormalities and declining renal function in the elderly population: the Cardiovascular Health Study. Am J Kidney Dis 46: 214-224.
11. Wong TY, Coresh J, Klein R, Muntner P, Couper DJ, et al. (2004) Retinal microvascular abnormalities and renal dysfunction: the atherosclerosis risk in communities study. J Am Soc Nephrol 15: 2469-2476.
12. Gunnlaugsdottir E, Halldorsdottir S, Klein R, Eiriksdottir G, Klein BE, et al. (2011) Retinopathy in old persons with and without diabetes mellitus: the Age, Gene/Environment Susceptibility-Reykjavik Study (AGES-R). Diabetologia.
13. Cooper LS, Wong TY, Klein R, Sharrett AR, Bryan RN, et al. (2006) Retinal microvascular abnormalities and MRI-defined subclinical cerebral infarction: the Atherosclerosis Risk in Communities Study. Stroke 37: 82-86.
14. Longstreth W Jr, Larsen EK, Klein R, Wong TY, Sharrett AR, et al. (2007) Associations between findings on cranial magnetic resonance imaging and retinal photography in the elderly: the Cardiovascular Health Study. Am J Epidemiol 165: 78-84.
15. Mitchell P, Wang JJ, Wong TY, Smith W, Klein R, et al. (2005) Retinal microvascular signs and risk of stroke and stroke mortality. Neurology 65: 1005-1009.
16. Wong TY, Klein R, Couper DJ, Cooper LS, Shahar E, et al. (2001) Retinal microvascular abnormalities and incident stroke: the Atherosclerosis Risk in Communities Study. Lancet 358: 1134-1140.
17. Wong TY, Klein R, Sharrett AR, Couper DJ, Klein BE, et al. (2002) Cerebral white matter lesions, retinopathy, and incident clinical stroke. Jama 288: 67-74.
18. Wong TY, Rosamond W, Chang PP, Couper DJ, Sharrett AR, et al. (2005) Retinopathy and risk of congestive heart failure. Jama 293: 63-69.
19. Van Hecke MV, Dekker JM, Nijpels G, Moll AC, Van Leiden HA, et al. (2003) Retinopathy is associated with cardiovascular and all-cause mortality in both diabetic and nondiabetic subjects: the hoorn study. Diabetes Care 26: 2958.
20. Wong TY, Klein R, Nieto FJ, Klein BE, Sharrett AR, et al. (2003) Retinal microvascular abnormalities and 10-year cardiovascular mortality: a population-based case-control study. Ophthalmology 110: 933-940.
21. Wong TY, Mohamed Q, Klein R, Couper DJ, (2006) Do retinopathy signs in non-diabetic individuals predict the subsequent risk of diabetes? Br J Ophthalmol 90: 301-303.
22. Klein R, Klein BE, Moss SE, Davis MD, DeMets DL, (1984) The Wisconsin epidemiologic study of diabetic retinopathy. III. Prevalence and risk of diabetic retinopathy when age at diagnosis is 30 or more years. Arch Ophthalmol 102: 527-532.
23. Wong TY, Mitchell P, (2007) The eye in hypertension. Lancet 369: 425-435.
24. Psaty BM, O'Donnell CJ, Gudnason V, Lunetta KL, Folsom AR, et al. (2009) Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium: Design of prospective meta-analyses of genome-wide association studies from 5 cohorts. Circ Cardiovasc Genet 2: 73-80.
25. Harris TB, Launer LJ, Eiriksdottir G, Kjartansson O, Jonsson PV, et al. (2007) Age, Gene/Environment Susceptibility-Reykjavik Study: multidisciplinary applied phenomics. Am J Epidemiol 165: 1076-1087.
26. The ARIC investigators, (1989) The Atherosclerosis Risk in Communities (ARIC) Study: design and objectives. Am J Epidemiol 129: 687-702.
27. Fried LP, Borhani NO, Enright P, Furberg CD, Gardin JM, et al. (1991) The Cardiovascular Health Study: design and rationale. Ann Epidemiol 1: 263-276.
28. Hofman A, Breteler MM, van Duijn CM, Krestin GP, Pols HA, et al. (2007) The Rotterdam Study: objectives and design update. Eur J Epidemiol 22: 819-829.
29. Mitchell P, Smith W, Attebo K, Wang JJ, (1995) Prevalence of age-related maculopathy in Australia. The Blue Mountains Eye Study. Ophthalmology 102: 1450-1460.
30. Bild DE, Bluemke DA, Burke GL, Detrano R, Diez Roux AV, et al. (2002) Multi-ethnic study of atherosclerosis: objectives and design. Am J Epidemiol 156: 871-881.
31. International HapMap Consortium, (2003) The International HapMap Project. Nature 426: 789-796.
32. Levy D, Ehret GB, Rice K, Verwoert GC, Launer LJ, et al. (2009) Genome-wide association study of blood pressure and hypertension. Nat Genet 41: 677-687.
33. Aulchenko YS, Struchalin MV, van Duijn CM, (2010) ProbABEL package for genome-wide association analysis of imputed data. BMC Bioinformatics 11: 134.
34. Marchini J, Howie B, (2010) Genotype imputation for genome-wide association studies. Nat Rev Genet 11: 499-511.
35. Marchini J, Howie B, Myers S, McVean G, Donnelly P, (2007) A new multipoint method for genome-wide association studies by imputation of genotypes. Nat Genet 39: 906-913.
36. Devlin B, Roeder K, (1999) Genomic control for association studies. Biometrics 55: 997-1004.
37. Lavanya R, Jeganathan VS, Zheng Y, Raju P, Cheung N, et al. (2009) Methodology of the Singapore Indian Chinese Cohort (SICC) eye study: quantifying ethnic variations in the epidemiology of eye diseases in Asians. Ophthalmic Epidemiol 16: 325-336.
38. Kottgen A, Pattaro C, Boger CA, Fuchsberger C, Olden M, et al. (2010) New loci associated with kidney function and chronic kidney disease. Nat Genet 42: 376-384.
39. Wellcome Trust Case Control Consortium, (2007) Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. Nature 447: 661-678.
40. Klungel OH, Heckbert SR, Longstreth WT Jr, Furberg CD, Kaplan RC, et al. (2001) Antihypertensive drug therapies and the risk of ischemic stroke. Arch Intern Med 161: 37-43.
41. Psaty BM, Heckbert SR, Koepsell TD, Siscovick DS, Raghunathan TE, et al. (1995) The risk of myocardial infarction associated with antihypertensive drug therapies. Jama 274: 620-625.
42. Franceschini N, Reiner AP, Heiss G, (2011) Recent findings in the genetics of blood pressure and hypertension traits. Am J Hypertens 24: 392-400.
43. Vassy JL, Meigs JB, (2012) Is genetic testing useful to predict type 2 diabetes? Best Pract Res Clin Endocrinol Metab 26: 189-201.
44. Sobrin L, Green T, Sim X, Jensen RA, Tai ES, et al. (2011) Candidate gene association study for diabetic retinopathy in persons with type 2 diabetes: the Candidate gene Association Resource (CARe). Invest Ophthalmol Vis Sci 52: 7593-7602.
45. Johnson AD, Handsaker RE, Pulit SL, Nizzari MM, O'Donnell CJ, et al. (2008) SNAP: a web-based tool for identification and annotation of proxy SNPs using HapMap. Bioinformatics 24: 2938-2939.
46. Higgins JP, Thompson SG, (2004) Controlling the risk of spurious findings from meta-regression. Stat Med 23: 1663-1682.
47. Higgins JP, Thompson SG, Deeks JJ, Altman DG, (2003) Measuring inconsistency in meta-analyses. BMJ 327: 557-560.
48. Izzedine H, Bodaghi B, Launay-Vacher V, Deray G, (2003) Eye and kidney: from clinical findings to genetic explanations. J Am Soc Nephrol 14: 516-529.
49. Azadi S, Molday LL, Molday RS, (2010) RD3, the protein associated with Leber congenital amaurosis type 12, is required for guanylate cyclase trafficking in photoreceptor cells. Proc Natl Acad Sci U S A 107: 21158-21163.
50. Fossdal R, Jonasson F, Kristjansdottir GT, Kong A, Stefansson H, et al. (2004) A novel TEAD1 mutation is the causative allele in Sveinsson's chorioretinal atrophy (helicoid peripapillary chorioretinal degeneration). Hum Mol Genet 13: 975-981.
51. Perronnet C, Vaillend C, (2010) Dystrophins, utrophins, and associated scaffolding complexes: role in mammalian brain and implications for therapeutic strategies. J Biomed Biotechnol 2010: 849426.
52. Bellenguez C, Bevan S, Gschwendtner A, Spencer CC, Burgess AI, et al. (2012) Genome-wide association study identifies a variant in HDAC9 associated with large vessel ischemic stroke. Nat Genet 44: 328-333.