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Journal of Ophthalmology
Volume 2010 (2010), Article ID 861291, 9 pages
Identification of Diabetic Retinopathy Genes through a Genome-Wide Association Study among Mexican-Americans from Starr County, Texas
1Human Genetics Center, School of Public Health, The University of Texas Health Science Center at Houston, P.O. Box 20186, Houston, TX 77225, USA
2Valley Retina Institute, McAllen, TX 78503, USA
3Department of Ophthalmology and Visual Sciences, University of Wisconsin School of Medicine and Public Health, Madison, WI 53705, USA
4Division of Endocrinology, Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, USA
5Department of Human Genetics, The University of Chicago, Chicago, IL 60637, USA
Received 18 December 2009; Revised 22 May 2010; Accepted 14 July 2010
Academic Editor: Kavita Hegde
Copyright © 2010 Yi-Ping Fu et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
- A. Foster and S. Resnikoff, “The impact of Vision 2020 on global blindness,” Eye, vol. 19, no. 10, pp. 1133–1135, 2005.
- Centers for Disease Control and Prevention, National Diabetes Fact Sheet: General Information and National Estimates on Diabetes in the United States, 2005, Department of Health and Human Services, Centers for Disease Control and Prevention, Atlanta, Ga, USA, 2005.
- J. B. Saaddine, A. A. Honeycutt, K. M. V. Narayan, X. Zhang, R. Klein, and J. P. Boyle, “Projection of diabetic retinopathy and other major eye diseases among people with diabetes mellitus: United States, 2005–2050,” Archives of Ophthalmology, vol. 126, no. 12, pp. 1740–1747, 2008.
- H. C. Looker, J. Krakoff, W. C. Knowler, P. H. Bennett, R. Klein, and R. L. Hanson, “Longitudinal studies of incidence and progression of diabetic retinopathy assessed by retinal photography in Pima Indians,” Diabetes Care, vol. 26, no. 2, pp. 320–326, 2003.
- M. C. Leske, S.-Y. Wu, A. Hennis, L. Hyman, B. Nemesure, L. Yang, and A. P. Schachat, “Hyperglycemia, blood pressure, and the 9-year incidence of diabetic retinopathy: the Barbados Eye Studies,” Ophthalmology, vol. 112, no. 5, pp. 799–805, 2005.
- L. Cikamatana, P. Mitchell, E. Rochtchina, S. Foran, and J. J. Wang, “Five-year incidence and progression of diabetic retinopathy in a defined older population: the Blue Mountains Eye Study,” Eye, vol. 21, no. 4, pp. 465–471, 2007.
- R. Singh, K. Ramasamy, C. Abraham, V. Gupta, and A. Gupta, “Diabetic retinopathy: an update,” Indian Journal of Ophthalmology, vol. 56, no. 3, pp. 179–188, 2008.
- M. I. Harris, R. Klein, C. C. Cowie, M. Rowland, and D. D. Byrd-Holt, “Is the risk of diabetic retinopathy greater in non-Hispanic blacks and Mexican Americans than in non-Hispanic whites with type 2 diabetes? A U.S. population study,” Diabetes Care, vol. 21, no. 8, pp. 1230–1235, 1998.
- N. Emanuele, J. Sacks, R. Klein, D. Reda, R. Anderson, W. Duckworth, and C. Abraira, “Ethnicity, race, and baseline retinopathy correlates in the Veterans Affairs Diabetes Trial,” Diabetes Care, vol. 28, no. 8, pp. 1954–1958, 2005.
- “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, vol. 46, no. 11, pp. 1829–1839, 1997.
- M. Rema, G. Saravanan, R. Deepa, and V. Mohan, “Familial clustering of diabetic retinopathy in South Indian Type 2 diabetic patients,” Diabetic Medicine, vol. 19, no. 11, pp. 910–916, 2002.
- D. M. Hallman, J. C. Huber Jr., V. H. Gonzalez, B. E. K. Klein, R. Klein, and C. L. Hanis, “Familial aggregation of severity of diabetic retinopathy in Mexican Americans from Starr County, Texas,” Diabetes Care, vol. 28, no. 5, pp. 1163–1168, 2005.
- N. H. Arar, B. I. Freedman, and B. I. Freedman, “Heritability of the severity of diabetic retinopathy: the FIND-Eye study,” Investigative Ophthalmology and Visual Science, vol. 49, no. 9, pp. 3839–3845, 2008.
- K. M. Warpeha and U. Chakravarthy, “Molecular genetics of microvascular disease in diabetic retinopathy,” Eye, vol. 17, no. 3, pp. 305–311, 2003.
- K. Uhlmann, P. Kovacs, Y. Boettcher, H.-P. Hammes, and R. Paschke, “Genetics of diabetic retinopathy,” Experimental and Clinical Endocrinology and Diabetes, vol. 114, no. 6, pp. 275–294, 2006.
- G. Imperatore, R. L. Hanson, D. J. Pettitt, S. Kobes, P. H. Bennett, and W. C. Knowler, “Sib-pair linkage analysis for susceptibility genes for microvascular complications among Pima Indians with 2 diabetes,” Diabetes, vol. 47, no. 5, pp. 821–830, 1998.
- H. C. Looker, R. G. Nelson, E. Chew, R. Klein, B. E. K. Klein, W. C. Knowler, and R. L. Hanson, “Genome-wide linkage analyses to identify loci for diabetic retinopathy,” Diabetes, vol. 56, no. 4, pp. 1160–1166, 2007.
- D. M. Hallman, E. Boerwinkle, V. H. Gonzalez, B. E. K. Klein, R. Klein, and C. L. Hanis, “A genome-wide linkage scan for diabetic retinopathy susceptibility genes in Mexican Americans with type 2 diabetes from Starr County, Texas,” Diabetes, vol. 56, no. 4, pp. 1167–1173, 2007.
- “A catalog of published genome-wide association studies,” http://www.genome.gov/26525384.
- M. G. Hayes, A. Pluzhnikov, and A. Pluzhnikov, “Identification of type 2 diabetes genes in Mexican Americans through genome-wide association studies,” Diabetes, vol. 56, no. 12, pp. 3033–3044, 2007.
- R. L. Hanson, C. Bogardus, and C. Bogardus, “A search for variants associated with young-onset type 2 diabetes in American Indians in a 100K genotyping array,” Diabetes, vol. 56, no. 12, pp. 3045–3052, 2007.
- E. Rampersaud, C. M. Damcott, and C. M. Damcott, “Identification of novel candidate genes for type 2 diabetes from a genome-wide association scan in the old order amish: evidence for replication from diabetes-related quantitative traits and from independent populations,” Diabetes, vol. 56, no. 12, pp. 3053–3062, 2007.
- J. C. Florez, A. K. Manning, and A. K. Manning, “A 100K genome-wide association scan for diabetes and related traits in the Framingham Heart Study: replication and integration with other genome-wide datasets,” Diabetes, vol. 56, no. 12, pp. 3063–3074, 2007.
- E. Boerwinkle, C. A. Brown, and C. A. Brown, “Multi-center genetic study of hypertension: the Family blood pressure program (FBPP),” Hypertension, vol. 39, no. 1, pp. 3–9, 2002.
- H. Matsuzaki, S. Dong, and S. Dong, “Genotyping over 100,000 SNPs on a pair of oligonucleotide arrays,” Nat Methods, vol. 1, no. 2, pp. 109–111, 2004.
- D. L. Nicolae, X. Wu, K. Miyake, and N. J. Cox, “GEL: a novel genotype calling algorithm using empirical likelihood,” Bioinformatics, vol. 22, no. 16, pp. 1942–1947, 2006.
- “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,” Investigative Ophthalmology and Visual Science, vol. 21, no. 1, part 2, pp. 1–226, 1981.
- R. Klein, B. E. K. Klein, and Y. L. Magli, “An alternative method of grading diabetic retinopathy,” Ophthalmology, vol. 93, no. 9, pp. 1183–1187, 1986.
- “Grading diabetic retinopathy from stereoscopic color fundus photographs—an extension of the Modified Airlie House classification. ETDRS report number 10. Early Treatment Diabetic Retinopathy Study research group,” Ophthalmology, vol. 98, supplement 5, pp. 786–806, 1991.
- S. Purcell, B. Neale, and B. Neale, “PLINK: a tool set for whole-genome association and population-based linkage analyses,” American Journal of Human Genetics, vol. 81, no. 3, pp. 559–575, 2007.
- B. Devlin and K. Roeder, “Genomic control for association studies,” Biometrics, vol. 55, no. 4, pp. 997–1004, 1999.
- Y. Li, C. J. Willer, J. Ding, P. Scheet, and G. R. Abecasis, “Rapid markov chain haplotyping and genotype inference,” submitted.
- Y. Li and G. R. Abecasis, “Mach 1.0: rapid haplotype reconstruction and missing genotype inference,” American Journal of Human Genetics, vol. S79, p. 2290, 2006.
- Y. S. Aulchenko, S. Ripke, A. Isaacs, and C. M. van Duijn, “GenABEL: an R library for genome-wide association analysis,” Bioinformatics, vol. 23, no. 10, pp. 1294–1296, 2007.
- Y. S. Aulchenko, M. V. Struchalin, and C. M. van Duijn, “ProbABEL package for genome-wide association analysis of imputed data,” BMC Bioinformatics, vol. 11, article 134, 2010.
- L. B. Piller, Y. P. Fu, V. H. Gonzalez, B. E. K. Klein, R. Klein, and C. L. Hanis, Prevalence and incidence of diabetic retinopathy of Mexican-Americans with type 2 diabetes from Starr county, Texas.
- K. A. Frazer, D. G. Ballinger, and D. G. Ballinger, “A second generation human haplotype map of over 3.1 million SNPs,” Nature, vol. 449, no. 7164, pp. 851–861, 2007.
- N. Ban, Y. Yamada, and Y. Yamada, “Activating transcripton factor-2 is a positive regulator in CaM kinase IV-induced human insulin gene expression,” Diabetes, vol. 49, no. 7, pp. 1142–1148, 2000.
- A. Kobielak, H. A. Pasolli, and E. Fuchs, “Mammalian formin-1 participates in adherens junctions and polymerization of linear actin cables,” Nature Cell Biology, vol. 6, no. 1, pp. 21–30, 2004.
- B. L. Goode and M. J. Eck, “Mechanism and function of formins in the control of actin assembly,” Annual Review of Biochemistry, vol. 76, pp. 593–627, 2007.
- Y. Kamei, Y. Takeda, K. Teramoto, O. Tsutsumi, Y. Taketani, and K. Watanabe, “Human NB-2 of the contactin subgroup molecules: chromosomal localization of the gene (CNTN5) and distinct expression pattern from other subgroup members,” Genomics, vol. 69, no. 1, pp. 113–119, 2000.
- M. G. Larson, L. D. Atwood, and L. D. Atwood, “Framingham Heart Study 100K project: genome-wide associations for cardiovascular disease outcomes,” BMC Medical Genetics, vol. 8, supplement 1, article S5, 2007.
- K. Ohtani, Y. Suzuki, and Y. Suzuki, “The membrane-type collectin CL-P1 is a scavenger receptor on vascular endothelial cells,” Journal of Biological Chemistry, vol. 276, no. 47, pp. 44222–44228, 2001.
- J. Cai and M. Boulton, “The pathogenesis of diabetic retinopathy: old concepts and new questions,” Eye, vol. 16, no. 3, pp. 242–260, 2002.
- J. Marchini, B. Howie, S. Myers, G. McVean, and P. Donnelly, “A new multipoint method for genome-wide association studies by imputation of genotypes,” Nature Genetics, vol. 39, no. 7, pp. 906–913, 2007.
- S. R. Browning, “Missing data imputation and haplotype phase inference for genome-wide association studies,” Human Genetics, vol. 124, no. 5, pp. 439–450, 2008.
- M. Via, C. Gignoux, and E. G. Burchard, “The 1000 genomes project: new opportunities for research and social challenges,” Genome Medicine, vol. 2, no. 1, p. 3, 2010.
- M. Nothnagel, D. Ellinghaus, S. Schreiber, M. Krawczak, and A. Franke, “A comprehensive evaluation of SNP genotype imputation,” Human Genetics, vol. 125, no. 2, pp. 163–171, 2009.
- Y.-F. Pei, J. Li, L. Zhang, C. J. Papasian, and H.-W. Deng, “Analyses and comparison of accuracy of different genotype imputation methods,” PLoS ONE, vol. 3, no. 10, Article ID e3551, 2008.
- K. Yoshioka, T. Takemura, and S. Hattori, “Tubulointerstitial nephritis antigen: primary structure, expression and role in health and disease,” Nephron, vol. 90, no. 1, pp. 1–7, 2002.
- D. Gong, X. Chen, and X. Chen, “Quantitative proteomic profiling identifies new renal targets of copper(II)-selective chelation in the reversal of diabetic nephropathy in rats,” Proteomics, vol. 9, no. 18, pp. 4309–4320, 2009.
- R. J. Wordinger, G. Zode, and A. F. Clark, “Focus on Molecules: gremlin,” Experimental Eye Research, vol. 87, no. 2, pp. 78–79, 2008.
- D. W. P. Lappin, C. Hensey, R. McMahon, C. Godson, and H. R. Brady, “Gremlins, glomeruli and diabetic nephropathy,” Current Opinion in Nephrology and Hypertension, vol. 9, no. 5, pp. 469–472, 2000.
- V. Dolan, M. Murphy, P. Alarcon, H. R. Brady, and C. Hensey, “Gremlin—a putative pathogenic player in progressive renal disease,” Expert Opinion on Therapeutic Targets, vol. 7, no. 4, pp. 523–526, 2003.
- R. Kane, L. Stevenson, C. Godson, A. W. Stitt, and C. O'Brien, “Gremlin gene expression in bovine retinal pericytes exposed to elevated glucose,” British Journal of Ophthalmology, vol. 89, no. 12, pp. 1638–1642, 2005.
- M. S. Roy, D. M. Hallman, Y.-P. Fu, M. Machado, and C. L. Hanis, “Assessment of 193 candidate genes for retinopathy in African Americans with type 1 diabetes,” Archives of Ophthalmology, vol. 127, no. 5, pp. 605–612, 2009.
- A. D. Skol, L. J. Scott, G. R. Abecasis, and M. Boehnke, “Joint analysis is more efficient than replication-based analysis for two-stage genome-wide association studies,” Nature Genetics, vol. 38, no. 2, pp. 209–213, 2006.