Genetics of diabetic retinopathy

Current Diabetes Reports

Volumn 14, Issue 8, 2014, Pages

  Cho, Heeyoon ^a,b   Sobrin, Lucia ^a  

^a MASSACHUSETTS EYE AND EAR INFIRMARY   (United States)

^b Hanyang University College of Medicine   (South Korea)

Author keywords

Candidate gene association studies; Diabetic retinopathy; Genetics; Genome wide association studies; Heritability; Linkage studies; Proliferative diabetic retinopathy

Indexed keywords

ARTICLE; DIABETIC RETINOPATHY; GENE LOCUS; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC IDENTIFICATION; GENETIC LINKAGE; GENETICS; HERITABILITY; HUMAN; NEXT GENERATION SEQUENCING; PHARMACOGENETICS; TWINS; DNA SEQUENCE; INHERITANCE;

DIABETIC RETINOPATHY; GENETIC LINKAGE; GENOME-WIDE ASSOCIATION STUDY; HUMANS; INHERITANCE PATTERNS; PHARMACOGENETICS; SEQUENCE ANALYSIS, DNA;

EID: 84902702924     PISSN: 15344827     EISSN: 15390829     Source Type: Journal    
DOI: 10.1007/s11892-014-0515-z     Document Type: Article

References (52)

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. Nathan DM. Long-term complications of diabetes mellitus. N Engl J Med. 1993;328:1676-85. (Pubitemid 23157351)
3. 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;105:1801-15. (Pubitemid 28509717)
4. 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;154:2169-78. (Pubitemid 24317263)
5. Klein R, Klein BE, Moss SE, Linton KL. The Beaver Dam Eye Study. Retinopathy in adults with newly discovered and previously diagnosed diabetes mellitus. Ophthalmology. 1992;99:58-62.
6. • Kuo JZ, Wong TY, Rotter JI. Challenges in elucidating the genetics of diabetic retinopathy. JAMA Ophthalmol. 2014;132:96-107. Comprehensive review article of the challenges facing the field of diabetic retinopathy genetics.
7. •• Abhary S, Hewitt AW, Burdon KP, Craig JE. A systematic meta-analysis of genetic association studies for diabetic retinopathy. Diabetes. 2009;58:2137-47. Thorough meta-analysis of many of the candidate gene studies performed for diabetic retinopathy.
8. Omar AF, Silva PS, Sun JK. Genetics of diabetic retinopathy. Semin Ophthalmol. 2013;28:337-46.
9. Liew G, Klein R, Wong TY. The role of genetics in susceptibility to diabetic retinopathy. Int Ophthalmol Clin. 2009;49:35-52.
10. Schwartz SG, Brantley Jr MA, Flynn Jr HW. Genetics and diabetic retinopathy. Curr Diabetes Rev. 2013;9:86-92.
11. Leslie RD, Pyke DA. Diabetic retinopathy in identical twins. Diabetes. 1982;31:19-21. (Pubitemid 12254626)
12. Clustering of long-term complications in families with diabetes in the diabetes control and complications trial. The Diabetes. Control and Complications Trial Research Group. Diabetes. 1997;46:1829-39.
13. Hietala K, Forsblom C, Summanen P, Groop PH. Heritability of proliferative diabetic retinopathy. Diabetes. 2008;57:2176-80.
14. Looker HC, Nelson RG, Chew E, et al. Genome-wide linkage analyses to identify Loci for diabetic retinopathy. Diabetes. 2007;56:1160-6. (Pubitemid 46525074)
15. Rema M, Saravanan G, Deepa R, Mohan V. Familial clustering of diabetic retinopathy in South Indian Type 2 diabetic patients. Diabetes Med. 2002;19:910-6. (Pubitemid 35356916)
16. Zhang X, Gao Y, Zhou Z, et al. Familial clustering of diabetic retinopathy in Chongqing, China, type 2 diabetic patients. Eur J Ophthalmol. 2010;20:911-8.
17. Hallman DM, Huber Jr JC, Gonzalez VH, et al. Familial aggregation of severity of diabetic retinopathy in Mexican Americans from Starr County. Texas Diabetes Care. 2005;28:1163-8. (Pubitemid 40616629)
18. Arar NH, Freedman BI, Adler SG, et al. Heritability of the severity of diabetic retinopathy: the FIND-Eye study. Invest Ophthalmol Vis Sci. 2008;49:3839-45.
19. Imperatore G, Hanson RL, Pettitt DJ, et al. Sib-pair linkage analysis for susceptibility genes for microvascular complications among Pima Indians with type 2 diabetes. Pima Diabetes Genes Group Diabetes. 1998;47:821-30. (Pubitemid 28201814)
20. Hallman DM, Boerwinkle E, Gonzalez VH, et al. A genome-wide linkage scan for diabetic retinopathy susceptibility genes in Mexican Americans with type 2 diabetes from Starr County. Texas Diabetes. 2007;56:1167-73. (Pubitemid 46525075)
21. McCarthy MI, Abecasis GR, Cardon LR, et al. Genome-wide association studies for complex traits: consensus, uncertainty and challenges. Nat Rev Genet. 2008;9:356-69. (Pubitemid 351556063)
22. 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. (Pubitemid 351754519)
23. Abhary S, Burdon KP, Casson RJ, et al. Association between erythropoietin gene polymorphisms and diabetic retinopathy. Arch Ophthalmol. 2010;128:102-6.
24. • Luo J, Zhao L, Chen AY, et al. TCF7L2 Variation and proliferative diabetic retinopathy. Diabetes. 2013;62:2613-7. Well-designed candidate gene study for diabetic retinopathy with independent replication.
25. Ciccacci C, Di Fusco D, Cacciotti L, et al. TCF7L2 gene polymorphisms and type 2 diabetes: association with diabetic retinopathy and cardiovascular autonomic neuropathy. Acta Diabetol. 2013;50:789-99.
26. Buraczynska M, Swatowski A, Markowska-Gosik D, Kuczmaszewska A, Ksiazek A. Transcription factor 7-like 2 (TCF7L2) gene polymorphism and complication/comorbidity profile in type 2 diabetes patients. Diabetes Res Clin Pract. 2011;93:390-5.
27. Sobrin L, Green T, Sim X, et al. Candidate gene association study for diabetic retinopathy in persons with type 2 diabetes: the Candidate gene Association Resource (CARe). Invest Ophthalmol Vis Sci. 2011;52:7593-602.
28. Visscher PM, Brown MA, McCarthy MI, Yang J. Five years of GWAS discovery. Am J Hum Genet. 2012;90:7-24.
29. Fritsche LG, Chen W, Schu M, et al. Seven newloci associated with age-related macular degeneration. Nat Genet. 2013;45:433-9. 9e1-2.
30. Neale BM, Fagerness J, Reynolds R, et al. Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC). Proc Natl Acad Sci U S A. 2010;107:7395-400.
31. Yu Y, Bhangale TR, Fagerness J, et al. Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration. Hum Mol Genet. 2011;20:3699-709.
32. 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.
33. Chen W, Stambolian D, Edwards AO, et al. Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration. Proc Natl Acad Sci U S A. 2010;107:7401-6.
34. Sandholm N, Salem RM, McKnight AJ, et al. New susceptibility loci associated with kidney disease in type 1 diabetes. PLoS Genet. 2012;8:e1002921.
35. Fu YP, Hallman DM, Gonzalez VH, et al. Identification of diabetic retinopathy genes through a genome-wide association study among Mexican-Americans from Starr County, Texas. J Ophthalmol. 2010;2010. doi:10.1155/2010/861291.
36. •• Grassi MA, Tikhomirov A, Ramalingam S, et al. Genome-wide meta-analysis for severe diabetic retinopathy. Hum Mol Genet. 2011;20:2472-81. Largest genome-wide association carried out to date for diabetic retinopathy.
37. Grassi MA, Tikhomirov A, Ramalingam S, et al. Replication analysis for severe diabetic retinopathy. Invest Ophthalmol Vis Sci. 2012;53:2377-81.
38. Huang YC, Lin JM, Lin HJ, et al. Genome-wide association study of diabetic retinopathy in a Taiwanese Population. Ophthalmology. 2011;118:642-8.
39. •• Sheu WH, Kuo JZ, Lee IT, et al. Genome-wide association study in a Chinese population with diabetic retinopathy. Hum Mol Genet. 2013;22:3165-73. Genome-wide association study that accounted well for nongenetic risk factors (glycemic control and duration of diabetes).
40. Silva PS, Cavallerano JD, Sun JK, et al. Nonmydriatic ultrawide field retinal imaging compared with dilated standard 7-field 35-mm photography and retinal specialist examination for evaluation of diabetic retinopathy. Am J Ophthalmol. 2012;154:549-59.e2.
41. Aiello LP, Cahill MT, Wong JS. Systemic considerations in the management of diabetic retinopathy. Am J Ophthalmol. 2001;132:760-76. (Pubitemid 33031293)
42. Yadav S, Cotlarciuc I, Munroe PB, et al. Genome-wide analysis of blood pressure variability and ischemic stroke. Stroke. 2013;44:2703-9.
43. Dichgans M, Malik R, Konig IR, et al. Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants. Stroke. 2014;45:24-36.
44. Andreassen OA, McEvoy LK, Thompson WK, et al. Identifying common genetic variants in blood pressure due to polygenic pleiotropy with associated phenotypes.Hypertension. 2014;63:819-26.
45. Tang H, Wei P, Duell EJ, et al. Genes-environment interactions in obesity- and diabetes-associated pancreatic cancer: a GWAS data analysis. Cancer Epidemiol Biomarkers Prev. 2014;23:98-106.
46. Wang Z, Liu X, Yang BZ, Gelernter J. The role and challenges of exome sequencing in studies of human diseases. Front Genet. 2013;4:160.
47. Seddon JM, Yu Y, Miller EC, et al. Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration. Nat Genet. 2013;45:1366-70.
48. Schmidt-Erfurth U, Lang GE, Holz FG, et al. Three-year outcomes of individualized ranibizumab treatment in patients with diabetic macular edema: the RESTORE Extension study. Ophthalmology. 2014;121:1045-53.
49. Brown DM, Nguyen QD, Marcus DM, et al. Long-term outcomes of ranibizumab therapy for diabetic macular edema: the 36-month results from two phase III trials: RISE and RIDE. Ophthalmology. 2013;120:2013-22.
50. Nicholson BP, Schachat AP. A review of clinical trials of anti-VEGF agents for diabetic retinopathy. Graefes Arch Clin Exp Ophthalmol. 2010;248:915-30.
51. Qi HP, Bi S, Wei SQ, Cui H, Zhao JB. Intravitreal vs subtenon triamcinolone acetonide injection for diabetic macular edema: a systematic review and meta-analysis. Curr Eye Res. 2012;37:1136-47.
52. El-Shazly SF, El-Bradey MH. Tameesh MK. Vascular endothelial growth factor gene polymorphism prevalence in patients with diabetic macular edema and its correlation with anti-VEGF treatment outcomes. Clin Exp Ophthalmol. 2014;42:369-78.