Genome-wide association study in a Chinese population with diabetic retinopathy

Human Molecular Genetics

Volumn 22, Issue 15, 2013, Pages

  Sheu, Wayne H H ^a,b,c,d   Kuo, Jane Z ^e   Lee, I Te ^a,b,c   Hung, Yi Jen ^d,f   Lee, Wen Jane ^a   Tsai, Hin Yeung ^a   Wang, J S ^a,c   Goodarzi, Mark O ^e   Klein, Ronald ^g   Klein, Barbara E K ^g   Ipp, Eli ^h   Lin, Shin Yi ^a,c   Guo, Xiuqing ^e,h   Hsieh, Chang Hsun ^d,f   Taylor, Kent D ^e,h   Fu, Chia Po ^a,b   Rotter, Jerome I ^e,h   Chen, Yii Der I ^e,h  

^a TAICHUNG VETERANS GENERAL HOSPITAL   (Taiwan)

^b CHUNG SHAN MEDICAL UNIVERSITY   (Taiwan)

^c NATIONAL YANG MING UNIVERSITY   (Taiwan)

^d NATIONAL DEFENSE MEDICAL CENTER   (Taiwan)

^e CEDARS SINAI MEDICAL CENTER   (United States)

^f TRI SERVICE GENERAL HOSPITAL   (Taiwan)

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

^h HARBOR UCLA MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

HEMOGLOBIN A1C; INSULIN;

ADULT; APOPTOSIS; ARL4C GENE; ARTICLE; BBS5 GENE; BODY MASS; CHINESE; COMMD6 GENE; CONTROLLED STUDY; DIABETIC RETINOPATHY; DISEASE DURATION; FEMALE; GENE; GENE LOCUS; GENETIC ASSOCIATION; HUMAN; INFLAMMATION; LRP2 GENE; MAJOR CLINICAL STUDY; MALE; NON INSULIN DEPENDENT DIABETES MELLITUS; OPHTHALMOSCOPY; PHENOTYPE; PRIORITY JOURNAL; SH3BP4 GENE; SIGNAL TRANSDUCTION; TBC1D4 GENE; UCHL3 GENE; AGED; ASIAN AMERICAN; CASE CONTROL STUDY; CHROMOSOME MAP; GENETICS; HISPANIC; META ANALYSIS (TOPIC); MIDDLE AGED; RISK FACTOR; SINGLE NUCLEOTIDE POLYMORPHISM;

ADULT; AGED; ASIAN AMERICANS; CASE-CONTROL STUDIES; CHROMOSOME MAPPING; DIABETIC RETINOPATHY; FEMALE; GENETIC LOCI; GENOME-WIDE ASSOCIATION STUDY; HISPANIC AMERICANS; HUMANS; MALE; META-ANALYSIS AS TOPIC; MIDDLE AGED; POLYMORPHISM, SINGLE NUCLEOTIDE; RISK FACTORS;

EID: 84880302986     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddt161     Document Type: Article

References (49)

1. The Diabetes Control and Complications Trial Research Group. (1993) The effect of intensive treatment of diabetes on the development and progression of long-term complications in insulin-dependent diabetes mellitus. N. Engl. J. Med., 329, 977-986.
2. UK Prospective Diabetes Study (UKPDS) Group. (1998) Intensive blood-glucose control with sulphonylureas or insulin compared with conventional treatment and risk of complications in patients with type 2 diabetes (UKPDS 33). Lancet, 352, 837-853.
3. Hirsch, I.B. and Brownlee, M. (2010) Beyond hemoglobin A1c-need for additional markers of risk for diabetic microvascular complications. JAMA, 303, 2291-2292.
4. Lachin, J.M., Genuth, S., Nathan, D.M., Zinman, B. and Rutledge, B.N. (2008) Effect of glycemic exposure on the risk of microvascular complications in the diabetes control and complications trial-revisited. Diabetes, 57, 995-1001.
5. Antonetti, D.A., Klein, R. and Gardner, T.W. (2012) Diabetic retinopathy. N. Engl. J. Med., 366, 1227-1239.
6. Leslie, R.D. and Pyke, D.A. (1982) Diabetic retinopathy in identical twins. Diabetes, 31, 19-21.
7. The Diabetes Control and Complications Trial Research Group. (1997) Clustering of long-term complications in families with diabetes in the diabetes control and complications trial. Diabetes, 46, 1829-1839.
8. Hallman, D.M., Huber, J.C. Jr, Gonzalez, V.H., Klein, B.E., Klein, R. and Hanis, C.L. (2005) Familial aggregation of severity of diabetic retinopathy in Mexican Americans from Starr County, Texas. Diabetes Care, 28, 1163-1168.
9. Arar, N.H., Freedman, B.I., Adler, S.G., Iyengar, S.K., Chew, E.Y., Davis, M.D., Satko, S.G., Bowden, D.W., Duggirala, R., Elston, R.C. et al. (2008) Heritability of the severity of diabetic retinopathy: the FIND-Eye study. Invest. Ophthalmol. Vis. Sci., 49, 3839-3845.
10. Ng, D.P. (2010) Human genetics of diabetic retinopathy: current perspectives. J. Ophthalmol., doi:10.1155/2010/172593.
11. Zhang, X., Saaddine, J.B., Chou, C.F., Cotch, M.F., Cheng, Y.J., Geiss, L.S., Gregg, E.W., Albright, A.L., Klein, B.E. and Klein, R. (2010) Prevalence of diabetic retinopathy in the United States, 2005-2008. JAMA, 304, 649-656.
12. Liew, G., Klein, R. and Wong, T.Y. (2009) The role of genetics in susceptibility to diabetic retinopathy. Int. Ophthalmol. Clin., 49, 35-52.
13. Sobrin, L.,Green, T., Sim, X., Jensen, R.A., Tai, E.S., Tay, W.T.,Wang, J.J., Mitchell, P., Sandholm, N., Liu, Y. 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.
14. Hallman, D.M., Boerwinkle, E., Gonzalez, V.H., Klein, B.E., Klein, R. and Hanis, C.L. (2007) A genome-wide linkage scan for diabetic retinopathy susceptibility genes in Mexican Americans with type 2 diabetes from Starr County, Texas. Diabetes, 56, 1167-1173.
15. Imperatore, G., Hanson, R.L., Pettitt, D.J., Kobes, S., Bennett, P.H. and Knowler, W.C. (1998) Sib-pair linkage analysis for susceptibility genes for microvascular complications among Pima Indians with type 2 diabetes. Pima Diabetes Genes Group. Diabetes, 47, 821-830.
16. Looker, H.C., Nelson, R.G., Chew, E., Klein, R., Klein, B.E., Knowler, W.C. and Hanson, R.L. (2007) Genome-wide linkage analyses to identify loci for diabetic retinopathy. Diabetes, 56, 1160-1166.
17. Fu, Y.P., Hallman, D.M., Gonzalez, V.H., Klein, B.E., Klein, R., Hayes, M.G., Cox, N.J., Bell, G.I. and Hanis, C.L. (2010) Identification of diabetic retinopathy genes through a genome-wide association study among Mexican-Americans from Starr County, Texas. J. Ophthalmol., doi:10.1155/2010/861291.
18. Huang, Y.C., Lin, J.M., Lin, H.J., Chen, C.C., Chen, S.Y., Tsai, C.H. and Tsai, F.J. (2011) Genome-wide association study of diabetic retinopathy in a Taiwanese population. Ophthalmology, 118, 642-648.
19. Grassi, M.A., Tikhomirov, A., Ramalingam, S., Below, J.E., Cox, N.J. and Nicolae, D.L. (2011) Genome-wide meta-analysis for severe diabetic retinopathy. Hum. Mol. Genet., 20, 2472-2481.
20. Patel, A., MacMahon, S., Chalmers, J., Neal, B., Billot, L., Woodward, M., Marre, M., Cooper, M., Glasziou, P., Grobbee, D. et al. (2008) Intensive blood glucose control and vascular outcomes in patients with type 2 diabetes. N. Engl. J. Med., 358, 2560-2572.
21. Varma, R., Choudhury, F., Klein, R., Chung, J., Torres, M. and Azen, S.P. (2010) Four-year incidence and progression of diabetic retinopathy and macular edema: the Los Angeles Latino Eye Study. Am. J. Ophthalmol., 149, 752-761 e751-753.
22. Klein, R., Klein, B.E., Moss, S.E. and Cruickshanks, K.J. (1994) The Wisconsin Epidemiologic Study of diabetic retinopathy. XIV. Ten-year incidence and progression of diabetic retinopathy. Arch. Ophthalmol., 112, 1217-1228.
23. Baus, D., Heermeier, K., De Hoop, M., Metz-Weidmann, C., Gassenhuber, J., Dittrich, W., Welte, S. and Tennagels, N. (2008) Identification of a novel AS160 splice variant that regulates GLUT4 translocation and glucose-uptake in rat muscle cells. Cell. Signal., 20, 2237-2246.
24. Suzuki, M., Setsuie, R. and Wada, K. (2009) Ubiquitin carboxyl-terminal hydrolase l3 promotes insulin signaling and adipogenesis. Endocrinology, 150, 5230-5239.
25. Sano, Y., Furuta, A., Setsuie, R., Kikuchi, H., Wang, Y.L., Sakurai, M., Kwon, J., Noda, M. and Wada, K. (2006) Photoreceptor cell apoptosis in the retinal degeneration of UCHL3-deficient mice. Am. J. Pathol., 169, 132-141.
26. de Bie, P., van de Sluis, B., Burstein, E., Duran, K.J., Berger, R., Duckett, C.S., Wijmenga, C. and Klomp, L.W. (2006) Characterization of COMMD protein-protein interactions in NF-kappaB signalling. Biochem. J., 398, 63-71.
27. Kuo, J.Z., Guo, X., Klein, R., Klein, B.E., Cui, J., Rotter, J.I., Ipp, E. and Chen, Y.D. (2012) Systemic soluble tumor necrosis factor receptors 1 and 2 are associated with severity of diabetic retinopathy in Hispanics. Ophthalmology, 119, 1041-1046.
28. Cheung, N., Mitchell, P. and Wong, T.Y. (2010) Diabetic retinopathy. Lancet, 376, 124-136.
29. Raila, J., Willnow, T.E. and Schweigert, F.J. (2005) Megalin-mediated reuptake of retinol in the kidneys of mice is essential for vitamin A homeostasis. J. Nutr., 135, 2512-2516.
30. Nykjaer, A., Dragun, D., Walther, D., Vorum, H., Jacobsen, C., Herz, J., Melsen, F., Christensen, E.I. and Willnow, T.E. (1999) An endocytic pathway essential for renal uptake and activation of the steroid 25-(OH) vitamin D3. Cell, 96, 507-515.
31. Kantarci, S., Al-Gazali, L., Hill, R.S., Donnai, D., Black, G.C., Bieth, E., Chassaing, N., Lacombe, D., Devriendt, K., Teebi, A. et al. (2007) Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes. Nat. Genet., 39, 957-959.
32. Loktev, A.V., Zhang, Q., Beck, J.S., Searby, C.C., Scheetz, T.E., Bazan, J.F., Slusarski, D.C., Sheffield, V.C., Jackson, P.K. and Nachury, M.V. (2008) A BBSome subunit links ciliogenesis, microtubule stability, and acetylation. Dev. Cell, 15, 854-865.
33. D'Souza, Y.B. and Short, C.D. (2009) The eye-a window on the kidney. Nephrol. Dial. Transplant., 24, 3582-3584.
34. Nachury, M.V., Loktev, A.V., Zhang, Q., Westlake, C.J., Peranen, J., Merdes, A., Slusarski, D.C., Scheller, R.H., Bazan, J.F., Sheffield, V.C. et al. (2007) A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis. Cell, 129, 1201-1213.
35. Mockel, A., Perdomo, Y., Stutzmann, F., Letsch, J., Marion, V. and Dollfus, H. (2011) Retinal dystrophy in Bardet-Biedl syndrome and related syndromic ciliopathies. Prog. Retin. Eye Res., 30, 258-274.
36. Engel, T., Lueken, A., Bode, G., Hobohm, U., Lorkowski, S., Schlueter, B., Rust, S., Cullen, P., Pech, M., Assmann, G. et al. (2004) ADP-ribosylation factor (ARF)-like 7 (ARL7) is induced by cholesterol loading and participates in apolipoprotein AI-dependent cholesterol export. FEBS Lett., 566, 241-246.
37. Lim, L.S. and Wong, T.Y. (2012) Lipids and diabetic retinopathy. Expert Opin. Biol. Ther., 12, 93-105.
38. Tosoni, D., Puri, C., Confalonieri, S., Salcini, A.E., De Camilli, P., Tacchetti, C. and Di Fiore, P.P. (2005) TTP specifically regulates the internalization of the transferrin receptor. Cell, 123, 875-888.
39. Swaroop, A., Branham, K.E., Chen, W. and Abecasis, G. (2007) Genetic susceptibility to age-related macular degeneration: a paradigm for dissecting complex disease traits. Hum. Mol. Genet., 16(Spec No. 2), R174-R182.
40. American Diabetes Association. (2011) Standards of medical care in diabetes-2011. Diabetes Care, 34(Suppl. 1), S11-S61.
41. Wilkinson, C.P., Ferris, F.L. 3rd, Klein, R.E., Lee, P.P., Agardh, C.D., Davis, M., Dills, D., Kampik, A., Pararajasegaram, R. and Verdaguer, J.T. (2003) Proposed international clinical diabetic retinopathy and diabetic macular edema disease severity scales. Ophthalmology, 110, 1677-1682.
42. Gunderson, K.L., Steemers, F.J., Ren, H., Ng, P., Zhou, L., Tsan, C., Chang, W., Bullis, D., Musmacker, J., King, C. et al. (2006) Whole-genome genotyping. Methods Enzymol., 410, 359-376.
43. Howie, B.N., Donnelly, P. and Marchini, J. (2009) A flexible and accurate genotype imputation method for the next generation of genome-wide association studies. PLoS Genetics, 5, e1000529.
44. Price, A.L., Patterson, N.J., Plenge, R.M., Weinblatt, M.E., Shadick, N.A. and Reich, D. (2006) Principal components analysis corrects for stratification in genome-wide association studies. Nat. Genet., 38, 904-909.
45. Purcell, S., Neale, B., Todd-Brown, K., Thomas, L., Ferreira, M.A., Bender, D., Maller, J., Sklar, P., de Bakker, P.I., Daly, M.J. et al. (2007) PLINK: a tool set for whole-genome association and population-based linkage analyses. Am. J. Hum. Genet., 81, 559-575.
46. Chen, M.H. and Yang, Q. (2010) GWAF: an R package for genome-wide association analyses with family data. Bioinformatics, 26, 580-581.
47. Willer, C.J., Li, Y. and Abecasis, G.R. (2010) METAL: fast and efficient meta-analysis of genomewide association scans. Bioinformatics, 26, 2190-2191.
48. Pruim, R.J., Welch, R.P., Sanna, S., Teslovich, T.M., Chines, P.S., Gliedt, T.P., Boehnke, M., Abecasis, G.R. and Willer, C.J. (2010) LocusZoom: regional visualization of genome-wide association scan results. Bioinformatics, 26, 2336-2337.
49. Johnson, A.D., Handsaker, R.E., Pulit, S.L., Nizzari, M.M., O'Donnell, C.J. and de Bakker, P.I. (2008) SNAP: a web-based tool for identification and annotation of proxy SNPs using HapMap. Bioinformatics, 24, 2938-2939.