Understanding of progress and challenges in elucidating the susceptibility genes of diabetic retinopathy: improving research quality of susceptibility genes of diabetic retinopathy_Chinese Journal of Ocular Fundus Diseases

Authors：

 SuiRuifang

Department of Ophthalmology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing 100730, China;

Corresponding author：

SuiRuifang, Email: hrfsui@163.com

Keywords：

Diabetic retinopathy/etiology; Diabetic retinopathy/genetics; Genes/genetics; Editorial

DOI：

10.3760/cma.j.issn.1005-1015.2016.02.003

Video：

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It is clear that genetic background contributes to the development and progression of diabetic retinopathy (DR). However, the identification of susceptibility loci through candidate gene approaches, linkage disequilibrium analysis of case-control data and genome wide association study is still in its infancy and faces many challenges due to the complexity of the disease itself. China has rich resources of clinical samples. In order to facilitate elucidating the susceptibility genes of DR in China, we look forward multi-disciplinary, multi-regional collaboration studies integrating novel technologies, such as proteomics, metabolomics and next-generation sequencing to analyze gene-gene and gene-environment interaction factors comprehensively.

Citation： SuiRuifang. Understanding of progress and challenges in elucidating the susceptibility genes of diabetic retinopathy: improving research quality of susceptibility genes of diabetic retinopathy. Chinese Journal of Ocular Fundus Diseases, 2016, 32(2): 122-125. doi: 10.3760/cma.j.issn.1005-1015.2016.02.003 Copy

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2. Hietala K, Forsblom C, Summanen P, et al. Heritability of proliferative diabetic retinopathy[J]. Diabetes, 2008, 57(8): 2176-2180.DOI:10.2337/db07-1495db07-1495.
3. Noble JA. Immunogenetics of type 1 diabetes:a comprehensive review[J]. J Autoimmun, 2015, 64:101-112. DOI:10.1016/j.jaut.2015.07.014.
4. Hu C, Zhang R,Wang C,et al. Variants from GIPR, TCF7L2, DGKB, MADD, CRY2, GLIS3, PROX1, SLC30A8 and IGF1 are associated with glucose metabo- lism in the Chinese[J/OL]. PLoS One,2010,5(11):15542[2010-11-17].http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2984505/. DOI: 10.1371/journal.pone.0015542.
5. Luo TH, Zhao Y, Li G,et al. A genome-wide search for Type Ⅱ diabetes susceptible genes in Chinese Hans[J]. Diabetologia ,2001,44(4) :501-506.DOI:10.1007/s001250051649.
6. Chen P, Takeuchi F, Lee JY, et al. Multiple nonglycemic genomic loci are newly associated with blood level of glycated hemoglobin in East Asians[J]. Diabetes, 2014,63(7): 2551-2562. DOI: 10.2337/db13-1815.
7. Ma RC, Hu C, Tam CH,et al. Genome-wideassociation study in a Chinese population identifies a susceptibility locus fortype 2 diabetes at 7q32 near PAX4[J]. Diabetologia,2013, 56(6):1291-1305.DOI:10.1007/s00125-013-2874-4.
8. Abhary S, Hewitt AW, Burdon KP, et al. A systematic meta-analysis of genetic association studies for diabetic retinopathy[J]. Diabetes,2009, 58(9): 2137-2147.DOI:10.2337 /db09-0059.
9. Uthra S, Raman R, Mukesh BN, et al. Association of VEGF gene polymorphisms with diabetic retinopathy in a south Indian cohort[J]. Ophthalmic Genet, 2008, 29(1): 11-15.DOI:10.1080/13816810701663527791668001.
10. Yuan Y, Wen Z,Guan Y, et al. The relationships between type 2 diabetic retinopathy and VEGF-634G/C and VEGF-460C/T polymorphisms in Han Chinese subjects[J]. J Diabetes Complications, 2014,28(6):785-790. DOI:10.1016/j. jdiacomp.2014. 08.003.
11. Abhary S, Hewitt AW, Burdon KP, et al. A systematic meta-analysis of genetic association studies for diabetic retinopathy[J]. Diabetes,2009,58(9):2137-2147. DOI: 10.2337/ db09- 0059.
12. Wang Y, Ng MC, Lee SC, et al. Phenotypic heterogeneity and associations of two aldose reductase gene polymorphisms with nephropathy and retinopathy in type 2 diabetes[J]. Diabetes care,2003,26(8):2410-2415.DOI: 10.2337/diacare.26.8.2410.
13. Petrovic MG, Peterlin B, Hawlina M,et al. Aldose reductase (AC)n gene polymorphism and susceptibility to diabetic retinopathy in Type 2 diabetes in Caucasians[J].J Diabetes Complications, 2005,19(2):70-73.
14. Tripathi AK, Chawla D, Bansal S, et al. Association of RAGE gene polymorphism with vascular complications in Indian type 2 diabetes mellitus patients[J]. Diabetes Res Clin Pract, 2014,103(3):474-481. DOI:10.1016/j.diabres.2013.12.004.
15. Yang L, Wu Q, Li Y,et al. Association of the receptor for advanced glycation end products gene polymorphisms and circulating RAGE levels with diabetic retinopathy in the Chinese population[J/OL].J Diabetes Res, 2013,2013:264579[2013-11-04]. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3835200/. DOI: 10.1155/2013/264579.
16. Ng ZX, Kuppusamy UR, Poh R, et al. Lack of association between Gly82Ser, 1704G/T and 2184A/G of RAGE gene polymorphisms and retinopathy susceptibility in Malaysian diabetic patients[J]. Genet Mol Res, 2012,11(1):455-461. DOI:10.4238/2012.March.1.2.
17. Kang P, Tian C, Jia C,et al. Association of RAGE gene polymorphisms with type 2 diabetes mellitus, diabetic retinopathy and diabetic nephropathy[J]. Gene,2012,500(1):1-9, DOI:10.1016/j.gene.2012.03.056.
18. Ng ZX, Kuppusamy UR, Tajunisah I, et al. Association analysis of -429T/C and -374T/A polymorphisms of receptor of advanced glycation end products (RAGE) gene in Malaysian with type 2 diabetic retinopathy[J]. Diabetes Res Clin Pract,2012,95(3):372- 377. DOI:10.1016/j.diabres.2011.11.005.
19. Huang YC, Lin JM, Lin H J, et al. Genome-wide association study of diabetic retinopathy in a Taiwanese population[J].Ophthalmology,2011,118(4):642-648. DOI: 10.1016/ j. Ophtha. 2010.07.020.
20. Grassi MA, Tikhomirov A, Ramalingam S, et al. Genome-wide meta-analysis for severe diabetic retinopathy[J]. Hum Mol Genet,2011,20(12):2472-2481. DOI:10.1093/hmg/ ddr121.
21. Grassi MA, Tikhomirov A , Ramalingam S,et al. Replication analysis for severe diabetic retinopathy[J]. Invest Ophthalmol Vis Sci,2012,53(4):2377-2781. DOI:10.1167/ iovs. 11-8068.
22. Sheu WH, Kuo, JZ, Lee IT, et al. Genome-wide association study in a Chinese population with diabetic retinopathy[J]. Hum Mol Genet,2013,22(15):3165-3173. DOI:10.1093/ hmg/ddt161.
23. Burdon KP, Fogarty RD, Shen W, et al. Genome-wide association study for sight-threatening diabetic retinopathy reveals association with genetic variation near theGRB2gene[J].Diabetologia,2015,58(10):2288-2297.DOI:10.1007/s00125-015-3697-210.1007/s00125-015-3697-2.
24. Looker HC, Nelson RG, Chew E, et al. Genome-wide linkage analyses to identify Loci for diabetic retinopathy[J]. Diabetes, 2007, 56(4): 1160-1166.DOI: 10.2337/db06-1299.
25. Prabhanjan M, Suresh RV, Murthy MN,et al. Type 2 diabetes mellitus disease risk genes identified by genome wide copy number variation scan in normal populations[J]. Diabetes Res Clin Pract, 2016,113:160-170.DOI:10.1016/j.diabres.2015.12.015.
26. Dajani R, Li J, Wei Z, et al. CNV AnalysisAssociates AKNAD1 with Type-2 Diabetes in Jordan Subpopulations[J/OL]. Sci Rep, 2015, 5:13391[2015-08-21].http://www.Ncbi.nlm.nih.gov/pmc/articles/PMC4543987/. DOI: 10.1038/srep13391.
27. Kodama S, Yamada T, Imai J, et al. Simultaneous copy number losses within multiple subtelomeric regions in early-onset type 2 diabetes mellitus[J/OL]. PLoS One, 2014 ,9: 88602[2014-04-07].http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3977841/. DOI: 10.1371/journal.pone.0088602.
28. Wang C, Kong H, Guan Y, et al. Plasma phospholipid metabolic profiling and biomarkers of type 2 diabetes mellitus based on high-performance liquid chromatography/electrospray mass spectrometry and multivariate statistical analysis[J]. Anal Chem,2005,77(13):4108-4116.DOI: 10.1371/journal.pone.0088602.
29. Li X, Luo X, Lu X, et al. Metabolomics study of diabetic retinopathy using gas chromatography-mass spectrometry: a comparison of stages and subtypes diagnosed by Western and Chinese medicine[J]. Mol Biosyst, 2011,7(7):2228-2237. DOI:10.1039/c0mb00341g.
30. Gao BB, Chen X, Timothy N, et al. Characterization of the vitreous proteome in diabetes without diabetic retinopathy and diabetes with proliferative diabetic retinopathy[J]. J Proteome Res, 2008,7(6):2516-2525. DOI:10.1021/pr800112g.
31. 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[J]. Nat Genet, 2013,45(11):1366-1370. DOI:10.1038/ng.2741.

Chinese Journal of Ocular Fundus Diseases

Understanding of progress and challenges in elucidating the susceptibility genes of diabetic retinopathy: improving research quality of susceptibility genes of diabetic retinopathy

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