Association of genes on chromosome 6, GRIK2, TMEM217 and TMEM63B (linked to MRPL14) with diabetic retinopathy

Ophthalmologica

Volumn 229, Issue 1, 2012, Pages 54-60

  Lin, Hui Ju ^a,c   Huang, Yu Chuen ^a,b,c   Lin, Jane Ming ^a,b,c   Wu, Jer Yuarn ^a,d   Chen, Liuh An ^a,b,c   Tsai, Fuu Jen ^a,c  

^a CHINA MEDICAL UNIVERSITY HOSPITAL   (Taiwan)

^b China Medical University Hospital   (China)

^c CHINA MEDICAL UNIVERSITY   (Taiwan)

^d ACADEMIA SINICA   (Taiwan)

Author keywords

Diabetes mellitus; Diabetic retinopathy; Genetics; Haplotype; Linkage disequilibrium; Ophthalmogenetics of retinal diseases; Proliferative diabetic retinopathy; Single nucleotide polymorphism

Indexed keywords

BIOLOGICAL MARKER; GLUTAMATE RECEPTOR IONOTROPIC KAINATE PROTEIN 2; MITOCHONDRIAL RIBOSOMAL PROTEIN 14; TRANSMEMBRANE PROTEIN 217; TRANSMEMBRANE PROTEIN 63B; UNCLASSIFIED DRUG;

ADULT; ARTICLE; CASE CONTROL STUDY; CHROMOSOME 6; CHROMOSOME 6Q; DIABETES MELLITUS; DIABETIC RETINOPATHY; DISEASE DURATION; FEMALE; GENE LOCUS; GENETIC ASSOCIATION; GENETIC LINKAGE; GENOTYPE; HAPLOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; PROMOTER REGION; SINGLE NUCLEOTIDE POLYMORPHISM;

CHROMOSOMES, HUMAN, PAIR 6; DIABETIC RETINOPATHY; DNA; FEMALE; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; MALE; MIDDLE AGED; POLYMORPHISM, SINGLE NUCLEOTIDE; RECEPTORS, KAINIC ACID; RISK FACTORS;

EID: 84871606691     PISSN: 00303755     EISSN: 14230267     Source Type: Journal    
DOI: 10.1159/000342616     Document Type: Article

References (32)

1. Taylor HR, Keeffe JE: World blindness: a 21st century perspective. Br J Ophthalmol 2001; 85:261-266.
2. Moss SE, Klein R, Klein BE: The 14-year incidence of visual loss in a diabetic population. Opht halmolog y 1998; 105: 998-1003.
3. Docherty LE, Poole RL, Mattocks CJ, Lehmann A, Temple IK, Mackay DJ: Further refinement of the critical minimal genetic region for the imprinting disorder 6q24 transient neonatal diabetes. Diabetologia 2010; 53: 2347-2351.
4. Stern MP, Duggirala R, Mitchell BD, Reinhart LJ, Shivakumar S, Shipman PA, Uresan-di OC, Benavides E, Blangero J, O'Connell P: Evidence for linkage of regions on chromosomes 6 and 11 to plasma glucose concentrations in Mexican Americans. Genome Res 1996; 6:724-734.
5. Steck AK, Rewers MJ: Genetics of type 1 diabetes. Clin Chem 2011; 57: 176-185.
6. Gardner RJ, Mungall AJ, Dunham I, Barber JC, Shield JP, Temple IK, Robinson DO: Localisation of a gene for transient neonatal diabetes mellitus to an 18.72 cR3000 (approximately 5.4 Mb) interval on chromosome 6q. J Med Genet 1999; 36: 192-196.
7. Shah AM, Bressler NM, Jampol LM: Does laser still have a role in the management of retinal vascular and neovascular diseases? Am J Ophthalmol 2011; 152:332-339e1.
8. Chiang DY, Villanueva A, Hoshida Y, Peix J, Newell P, Minguez B, LeBlanc AC, Donovan DJ, Thung SN, Solé M, Tovar V, Alsinet C, Ramos AH, Barretina J, Roayaie S, Schwartz M, Waxman S, Bruix J, Mazzaferro V, Ligon AH, Najfeld V, Friedman SL, Sellers WR, Meyerson M, Llovet JM: Focal gains of VEGFA and molecular classification of he-patocellular carcinoma. Cancer Res 2008; 68: 6779-6788.
9. Sun H, Swaim A, Herrera JE, Becker D, Becker L, Srivastava K, Thompson LE, Shero MR, Perez-Tamayo A, Suktitipat B, Mathias R, Contractor A, Faraday N, Morrell CN: Platelet kainate receptor signaling promotes thrombosis by stimulating cyclooxygenase activation. Circ Res 2009; 105: 595-603.
10. Recchia FM, Xu L, Penn JS, Boone B, Dexhei-mer PJ: Identification of genes and pathways involved in retinal neovascularization by microa rray ana lysis of two animal models of retinal angiogenesis. Invest Ophthalmol Vis Sci 2010; 51: 1098-1105.
11. Hallman DM, Boerwinkle E, Gonzalez VH, Klein BE, Klein R, Hanis CL: A genome-wide linkage scan for diabetic retinopathy susceptibility genes in Mexican Americans with type 2 diabetes from Starr County, Texas. Diabetes 2007; 56: 1167-1173.
12. Wilkinson CP, Ferris FL 3rd, Klein RE, Lee PP, Agardh CD, Davis M, Dills D, Kampik A, Pararajasegaram R, Verdaguer JT, Global Diabetic Retinopathy Project Group: Proposed international clinical diabetic reti-nopathy and diabetic macular edema disease severity scales. Ophthalmology 2003; 110: 1677-1682.
13. Barrett JC, Fry B, Maller J, Daly MJ: Haplo-view: analysis and visualization of LD and haplotype maps. Bioinformatics 2005; 21: 263-265.
14. Lu F, Qian Y, Li H, Dong M, Lin Y, Du J, Lin Y, Chen J, Shen C, Jin G, Dai J, Hu Z, Shen H: Genetic variants on chromosome 6p21.1 and 6p22.3 are associated with type 2 diabetes risk: a case-control study in Han Chinese. Hu m Genet 2012; 57: 320-325.
15. Walker BR, Connacher AA, Webb DJ, Edwards CR: Glucocorticoids and blood pressure: a role for the cortisol/cortisone shuttle in the control of vascular tone in man. Clin Sci 1992; 83:171-178.
16. Mangos G, Walker BR, Kelly JJ, Lawson JA, Webb DJ, Whitworth JA: Cortisol inhibits cholinergic dilatation in the human forearm: towards an explanation for glucocorticoid-induced hypertension. Am J Hypertens 2000; 13: 1155-1560.
17. Awata T, Neda T, Iizuka H, Kurihara S, Oh-kubo T, Takata N, Osaki M, Watanabe M, Nakashima Y, Sawa T, Inukai K, Inoue I, Shibuya M, Mori K, Yoneya S, Katayama S: Endothelial nitric oxide synthase gene is associated with diabetic macular edema in type 2 diabetes. Diabetes Care 2004; 27:2184-2190.
18. Hewitt KN, Walker EA, Stewart PM: Minireview: hexose-6-phosphate dehydrogenase and redox control of 11{beta}-hydroxyster-oid dehydrogenase type 1 activity. Endocrinology 2005; 146:2539-2543.
19. De Grijse J, Asanghanwa M, Nouthe B, Al-brecher N, Goubert P, Vermeulen I, Van Der Meeren S, Decochez K, Weets I, Keymeulen B, Lampasona V, Wenzlau J, Hutton JC, Pipeleers D, Gorus FK, Belgian Diabetes Registry: Predictive power of screening for antibodies against insulinoma-associated protein 2 beta (IA-2beta) and zinc transport-er-8 to select first-degree relatives of type 1 diabetic patients with risk of rapid progression to clinical onset of the disease: implications for prevention trials. Diabetologia 2010; 53: 517-524.
20. Chapuis J, Hot D, Hansmannel F, Kerdraon O, Ferreira S, Hubans C, Maurage CA, Huot L, Bensemain F, Laumet G, Ayral AM, Fievet N, Hauw JJ, DeKosky ST, Lemoine Y, Iwat-subo T, Wavrant-Devrièze F, Dartigues JF, Tzourio C, Buée L, Pasquier F, Berr C, Mann D, Lendon C, Alpérovitch A, Kamboh MI, Amouyel P, Lambert JC: Mitochondrion. Transcriptomic and genetic studies identify IL-33 as a candidate gene for Alzheimer's disease. Mol Psychiatry 2009; 14:1004-1016.
21. Kemppainen E, Fernández-Ayala DJ, Gal-braith LC, O'Dell KM, Jacobs HT: Phenotyp-ic suppression of the Drosophila mitochon-drial disease-like mutant tko(25t) by duplication of the mutant gene in its natural chromosomal context. Mitochondrion 2009; 9: 353-363.
22. Smith AK, Fang H, Whistler T, Unger ER, Rajeevan MS: Convergent genomic studies identify association of GRIK2 and NPAS2 with chronic fatigue syndrome. Neuropsy-chobiology 2011; 64: 183-194.
23. de Oliveira C, de Mattos AB, Biz C, Oyama LM, Ribeiro EB, do Nascimento CM: High-fat diet and glucocorticoid treatment cause hyperglycemia associated with adiponectin receptor alterations. Lipids Health Dis 2011; 10:11.
24. Seissler J, de Sonnaville JJ, Morgenthaler NG, Steinbrenner H, Glawe D, Khoo-Morgent haler UY, Lan MS, Notkins AL, Heine RJ, Scherbaum WA: Immunological heterogeneity in type I diabetes: presence of distinct autoantibody patterns in patients with acute onset and slowly progressive disease. Diabe-tologia 1998; 41:891-897.
25. Sabbah E, Savola K, Kulmala P, Reijonen H, Veijola R, Vähäsalo P, Karjalainen J, Ilonen J, Akerblom HK, Knip M: Disease-associated autoantibodies and HLA-DQB1 genotypes in children with newly diagnosed insulin-dependent diabetes mellitus (IDDM). The Childhood Diabetes in Finland Study Group. Clin Exp Immunol 1999; 116:78-83.
26. Törn C, Landin-Olsson M, Lernmark A, Palmer JP, Arnqvist HJ, Blohmé G, Lithner F, Littorin B, Nyström L, Scherstén B, Sund-kvist G, Wibell L, Ostman J: Prognostic factors for t he cou rse of beta c ell f u nct ion i n autoimmune diabetes. J Clin Endocrinol Metab 2000; 85:4619-4623.
27. Yoshida S, Ohishi T, Matsui T, Tanaka H, Oshima H, Yonetoku Y, Shibasaki M: Novel GPR119 agonist AS1535907 contributes to first-phase insulin secretion in rat perfused pancreas and diabetic db/db mice. Biochem Biophys Res Commun 2010; 402:280-285.
28. Ametov AS, Barinov A, Dyck PJ, Hermann R, Kozlova N, Litchy WJ, Low PA, Nehrdich D, Novosadova M, O'Brien PC, Reljanovic M, Samigullin R, Schuette K, Strokov I, Tritschler HJ, Wessel K, Yakhno N, Ziegler D, SYDNEY Trial Study Group: The sensory symptoms of diabetic polyneuropathy are improved with alpha-lipoic acid: the SYDNEY trial. Diabetes Ca re 2003; 26: 770-776.
29. Churchill AJ, Carter JG, Ramsden C, Turner SJ, Yeung A, Brenchley PE, Ray DW: VEGF polymorphisms are associated with severity of diabetic retinopathy. Invest Ophthalmol Vis Sci 2008; 49:3611-3616.
30. Gater D: 32nd National Medicinal Chemistry Symposium-medicinal chemistry developments for neurodegeneration, diabetes and ca ncer. IDrugs 2010; 13: 514-516.
31. Persson A, Becker C, Hansson I, Nilsson A, Tör n C: Compar ison of me asu rements of au-toantibodies to glutamic acid decarboxylase and islet antigen-2 in whole blood eluates from dried blood spots using the RSR-en-zyme linked immunosorbent assay kits and in-house radioimmunoassays. Exp Diabetes Res 2010; 2010:173652.
32. Cervantes-Villagrana AR, Garcia-Román J, González-Espinosa C, Lamas M: Pharmaco-logica l inhibition of N-methyl-D-aspartate receptor promotes secretion of vascular en-dothelial growth factor in Müller cells: effects of hyperglycemia and hypoxia. Curr Eye Res 2010; 35: 733-741.