Association of polymorphisms of tumor necrosis factor and tumor protein p53 with primary open-angle glaucoma

Investigative Ophthalmology and Visual Science

Volumn 51, Issue 8, 2010, Pages 4110-4116

  Fan, Bao Jian ^a,b   Liu, Ke ^a   Wang, Dan Yi ^a,b   Tham, Clement C Y ^a   Tam, Pancy O S ^a   Lam, Dennis S C ^a   Pang, Chi Pui ^a  

^a CHINESE UNIVERSITY OF HONG KONG   (Hong Kong)

^b MASSACHUSETTS EYE AND EAR INFIRMARY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

5,10 METHYLENETETRAHYDROFOLATE REDUCTASE (FADH2); ADENINE; CYCLIN DEPENDENT KINASE INHIBITOR 1A; CYTOCHROME P450 1B1; ENDOTHELIAL NITRIC OXIDE SYNTHASE; GENE PRODUCT; GLUTATHIONE TRANSFERASE M1; GLUTATHIONE TRANSFERASE T1; GUANINE; OPTIC ATROPHY 1 PROTEIN; PROTEIN P53; TUMOR NECROSIS FACTOR; UNCLASSIFIED DRUG; UVOMORULIN; TNF PROTEIN, HUMAN; TP53 PROTEIN, HUMAN; TUMOR NECROSIS FACTOR ALPHA;

ADULT; AGED; ARTICLE; CDH1 GENE; CDKN1A GENE; CHINESE; CONTROLLED STUDY; CYP1B1 GENE; DISEASE ASSOCIATION; FEMALE; GENE; GENE FREQUENCY; GENETIC ANALYSIS; GENETIC POLYMORPHISM; GENETIC VARIABILITY; GENOTYPE; GSTM1 GENE; GSTT1 GENE; HAPLOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; MTHFR GENE; NOS3 GENE; OPA1 GENE; OPEN ANGLE GLAUCOMA; POPULATION GENETICS; PRIORITY JOURNAL; RISK FACTOR; SINGLE NUCLEOTIDE POLYMORPHISM; TNF GENE; TP53 GENE; ADOLESCENT; ASIAN; CHILD; GENETICS; INTRAOCULAR HYPERTENSION; INTRAOCULAR PRESSURE; LOW TENSION GLAUCOMA; MIDDLE AGED; PRESCHOOL CHILD;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; ASIAN CONTINENTAL ANCESTRY GROUP; CHILD; CHILD, PRESCHOOL; FEMALE; GENOTYPE; GLAUCOMA, OPEN-ANGLE; HUMANS; INTRAOCULAR PRESSURE; LOW TENSION GLAUCOMA; MALE; MIDDLE AGED; OCULAR HYPERTENSION; POLYMORPHISM, SINGLE NUCLEOTIDE; RISK FACTORS; TUMOR NECROSIS FACTOR-ALPHA; TUMOR SUPPRESSOR PROTEIN P53;

EID: 77955890933     PISSN: 01460404     EISSN: 15525783     Source Type: Journal    
DOI: 10.1167/iovs.09-4974     Document Type: Article

References (78)

1. Quigley HA, Broman AT. The number of people with glaucoma worldwide in 2010 and 2020. Br J Ophthalmol. 2006;90:262-267.
2. van Koolwijk LM, Despriet DD, van Duijn CM, et al. Genetic contributions to glaucoma: heritability of intraocular pressure, retinal nerve fiber layer thickness, and optic disc morphology. Invest Ophthalmol Vis Sci. 2007;48:3669-3676.
3. Thorleifsson G, Magnusson KP, Sulem P, et al. Common sequence variants in the LOXL1 gene confer susceptibility to exfoliation glaucoma. Science. 2007;317:1397-1400.
4. Fan BJ, Pasquale L, Grosskreutz CL, et al. DNA sequence variants in the LOXL1 gene are associated with pseudoexfoliation glaucoma in a U.S. clinic-based population with broad ethnic diversity. BMC Med Genet. 2008;9:5.
5. Hewitt AW, Sharma S, Burdon KP, et al. Ancestral LOXL1 variants are associated with pseudoexfoliation in Caucasian Australians but with markedly lower penetrance than in Nordic people. Hum Mol Genet. 2008;17:710-716.
6. Ozaki M, Lee KY, Vithana EN, et al. Association of LOXL1 gene polymorphisms with pseudoexfoliation in the Japanese. Invest Ophthalmol Vis Sci. 2008;49:3976-3980.
7. Fan BJ, Wang DY, Lam DS, Pang CP. Gene mapping for primary open angle glaucoma. Clin Biochem. 2006;39:249-258.
8. Wang DY, Fan BJ, Chua JK, et al. A genome-wide scan maps a novel juvenile-onset primary open-angle glaucoma locus to 15q. Invest Ophthalmol Vis Sci. 2006;47:5315-5321.
9. Stone EM, Fingert JH, Alward WL, et al. Identification of a gene that causes primary open angle glaucoma. Science. 1997;275:668-670.
10. Rezaie T, Child A, Hitchings R, et al. Adult-onset primary openangle glaucoma caused by mutations in optineurin. Science. 2002; 295:1077-1079.
11. Monemi S, Spaeth G, DaSilva A, et al. Identification of a novel adult-onset primary open-angle glaucoma (POAG) gene on 5q22.1. Hum Mol Genet. 2005;14:725-733.
12. Fan BJ, Wang DY, Fan DS, et al. SNPs and interaction analyses of myocilin, optineurin, and apolipoprotein E in primary open angle glaucoma patients. Mol Vis. 2005;11:625-631.
13. Fan BJ, Wang DY, Cheng CY, Ko WC, Lam SC, Pang CP. Different WDR36 mutation pattern in Chinese patients with primary openangle glaucoma. Mol Vis. 2009;15:646-653.
14. Allingham RR, Liu Y, Rhee DJ. The genetics of primary open-angle glaucoma: a review. Exp Eye Res. 2009;88:837-844.
15. Aung T, Ocaka L, Ebenezer ND, et al. A major marker for normal tension glaucoma: association with polymorphisms in the OPA1 gene. Hum Genet. 2002;110:52-56.
16. Liu Y, Schmidt S, Qin X, et al. No association between OPA1 polymorphisms and primary open-angle glaucoma in three different populations. Mol Vis. 2007;13:2137-2141.
17. Farkas RH, Grosskreutz CL. Apoptosis, neuroprotection, and retinal ganglion cell death: an overview. Int Ophthalmol Clin. 2001; 41:111-130.
18. Tezel G. Oxidative stress in glaucomatous neurodegeneration: mechanisms and consequences. Prog Retin Eye Res. 2006;25:490-513.
19. Kong GY, Van Bergen NJ, Trounce IA, Crowston JG. Mitochondrial dysfunction and glaucoma. J Glaucoma. 2009;18:93-100.
20. Lin HJ, Tsai FJ, Hung P, et al. Association of E-cadherin gene 3'-UTR C/T polymorphism with primary open angle glaucoma. Ophthalmic Res. 2006;38:44-48.
21. Tsai FJ, Lin HJ, Chen WC, Tsai CH, Tsai SW. A codon 31ser-arg polymorphism of the WAF-1/CIP-1/p21/tumour suppressor gene in Chinese primary open-angle glaucoma. Acta Ophthalmol Scand. 2004;82:76-80.
22. Junemann AG, von Ahsen N, Reulbach U, et al. C677T variant in the methylentetrahydrofolate reductase gene is a genetic risk factor for primary open-angle glaucoma. Am J Ophthalmol. 2005;139: 721-723.
23. Lin HJ, Tsai FJ, Chen WC, Shi YR, Hsu Y, Tsai SW. Association of tumour necrosis factor alpha -308 gene polymorphism with primary open-angle glaucoma in Chinese. Eye (Lond). 2003;17:31-34.
24. Lin HJ, Chen WC, Tsai FJ, Tsai SW. Distributions of p53 codon 72 polymorphism in primary open angle glaucoma. Br J Ophthalmol. 2002;86:767-770.
25. Juronen E, Tasa G, Veromann S, et al. Polymorphic glutathione S-transferase M1 is a risk factor of primary open-angle glaucoma among Estonians. Exp Eye Res. 2000;71:447-452.
26. Unal M, Guven M, Devranoglu K, et al. Glutathione S transferase M1 and T1 genetic polymorphisms are related to the risk of primary open-angle glaucoma: a study in a Turkish population. Br J Ophthalmol. 2007;91:527-530.
27. Vincent AL, Billingsley G, Buys Y, et al. Digenic inheritance of early-onset glaucoma: CYP1B1, a potential modifier gene. Am J Hum Genet. 2002;70:448-460.
28. Tunny TJ, Richardson KA, Clark CV. Association study of the 5' flanking regions of endothelial-nitric oxide synthase and endothelin- 1 genes in familial primary open-angle glaucoma. Clin Exp Pharmacol Physiol. 1998;25:26-29.
29. Arand M, Muhlbauer R, Hengstler J, et al. A multiplex polymerase chain reaction protocol for the simultaneous analysis of the glutathione S-transferase GSTM1 and GSTT1 polymorphisms. Anal Biochem. 1996;236:184-186.
30. Purcell S, Neale B, Todd-Brown K, et al. PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet. 2007;81:559-575.
31. Yuan L, Neufeld AH. Tumor necrosis factor-alpha: a potentially neurodestructive cytokine produced by glia in the human glaucomatous optic nerve head. Glia. 2000;32:42-50.
32. Tezel G, Li LY, Patil RV, Wax MB. TNF-alpha and TNF-alpha receptor-1 in the retina of normal and glaucomatous eyes. Invest Ophthalmol Vis Sci. 2001;42:1787-1794.
33. Nakazawa T, Nakazawa C, Matsubara A, et al. Tumor necrosis factor-alpha mediates oligodendrocyte death and delayed retinal ganglion cell loss in a mouse model of glaucoma. J Neurosci. 2006;26:12633-12641.
34. Nickells RW. Apoptosis of retinal ganglion cells in glaucoma: an update of the molecular pathways involved in cell death. Surv Ophthalmol. 1999;43(suppl 1):S151-S161.
35. Skarie JM, Link BA. The primary open-angle glaucoma gene WDR36 functions in ribosomal RNA processing and interacts with the p53 stress-response pathway. Hum Mol Genet. 2008;17:2474-2485.
36. Razeghinejad MR, Rahat F, Kamali-Sarvestani E. Association of TNFA -308 G/A and TNFRI +36 A/G gene polymorphisms with glaucoma. Ophthalmic Res. 2009;42:118-124.
37. Funayama T, Ishikawa K, Ohtake Y, et al. Variants in optineurin gene and their association with tumor necrosis factor-alpha poly- morphisms in Japanese patients with glaucoma. Invest Ophthalmol Vis Sci. 2004;45:4359-4367.
38. Mossbock G, Weger M, Moray M, et al. TNF-alpha promoter polymorphisms and primary open-angle glaucoma. Eye (Lond). 2006; 20:1040-1043.
39. Louis E, Franchimont D, Piron A, et al. Tumour necrosis factor (TNF) gene polymorphism influences TNF-alpha production in lipopolysaccharide (LPS)-stimulated whole blood cell culture in healthy humans. Clin Exp Immunol. 1998;113:401-406.
40. Huizinga TW, Westendorp RG, Bollen EL, et al. TNF-alpha promoter polymorphisms, production and susceptibility to multiple sclerosis in different groups of patients. J Neuroimmunol. 1997; 72:149-153.
41. Tekeli O, Turacli ME, Egin Y, Akar N, Elhan AH. Tumor necrosis factor alpha _308 gene polymorphism and pseudoexfoliation glaucoma. Mol Vis. 2008;14:1815-1818.
42. Pereira TV, Rudnicki M, Franco RF, Pereira AC, Krieger JE. Effect of the G-308A polymorphism of the tumor necrosis factor alpha gene on the risk of ischemic heart disease and ischemic stroke: a meta-analysis. Am Heart J. 2007;153:821-830.
43. Ressiniotis T, Griffiths PG, Birch M, Keers S, Chinnery PF. Primary open angle glaucoma is associated with a specific p53 gene haplotype. J Med Genet. 2004;41:296-298.
44. Daugherty CL, Curtis H, Realini T, Charlton JF, Zareparsi S. Primary open angle glaucoma in a Caucasian population is associated with the p53 codon 72 polymorphism. Mol Vis. 2009;15:1939-1944.
45. Acharya M, Mitra S, Mukhopadhyay A, Khan M, Roychoudhury S, Ray K. Distribution of p53 codon 72 polymorphism in Indian primary open angle glaucoma patients. Mol Vis. 2002;8:367-371.
46. Dimasi DP, Hewitt AW, Green CM, Mackey DA, Craig JE. Lack of association of p53 polymorphisms and haplotypes in high and normal tension open angle glaucoma. J Med Genet. 2005;42:e55.
47. Mabuchi F, Sakurada Y, Kashiwagi K, Yamagata Z, Iijima H, Tsukahara S. Lack of association between p53 gene polymorphisms and primary open angle glaucoma in the Japanese population. Mol Vis. 2009;15:1045-1049.
48. Saglar E, Yucel D, Bozkurt B, Ozgul RK, Irkec M, Ogus A. Association of polymorphisms in APOE, p53, and p21 with primary open-angle glaucoma in Turkish patients. Mol Vis. 2009;15:1270-1276.
49. Silva RE, Arruda JT, Rodrigues FW, Moura KK. Primary open angle glaucoma was not found to be associated with p53 codon 72 polymorphism in a Brazilian cohort. Genet Mol Res. 2009;8:268-272.
50. Dumont P, Leu JI, Della Pietra AC, 3rd, George DL, Murphy M. The codon 72 polymorphic variants of p53 have markedly different apoptotic potential. Nat Genet. 2003;33:357-365.
51. Ressiniotis T, Griffiths PG, Keers SM, Chinnery PF, Birch M. A polymorphism at codon 31 of gene p21 is not associated with primary open angle glaucoma in Caucasians. BMC Ophthalmol. 2005;5:5.
52. Pasutto F, Chavarria-Soley G, Mardin CY, et al. Heterozygous lossof- function variants in CYP1B1 predispose to primary open-angle glaucoma. Invest Ophthalmol Vis Sci. 2010;51:249-254.
53. Bhattacharjee A, Banerjee D, Mookherjee S, et al. Leu432Val polymorphism in CYP1B1 as a susceptible factor towards predisposition to primary open-angle glaucoma. Mol Vis. 2008;14:841-850.
54. Melki R, Lefort N, Brezin AP, Garchon HJ. Association of a common coding polymorphism (N453S) of the cytochrome P450 1B1 (CYP1B1) gene with optic disc cupping and visual field alteration in French patients with primary open-angle glaucoma. Mol Vis. 2005;11:1012-1017.
55. Kumar A, Basavaraj MG, Gupta SK, et al. Role of CYP1B1, MYOC, OPTN, and OPTC genes in adult-onset primary open-angle glaucoma: predominance of CYP1B1 mutations in Indian patients. Mol Vis. 2007;13:667-676.
56. Chakrabarti S, Devi KR, Komatireddy S, et al. Glaucoma-associated CYP1B1 mutations share similar haplotype backgrounds in POAG and PACG phenotypes. Invest Ophthalmol Vis Sci. 2007;48:5439-5444.
57. Wolf C, Gramer E, Muller-Myhsok B, et al. Evaluation of nine candidate genes in patients with normal tension glaucoma: a case control study. BMC Med Genet. 2009;10:91.
58. Jansson M, Rada A, Tomic L, Larsson LI, Wadelius C. Analysis of the Glutathione S-transferase M1 gene using pyrosequencing and multiplex PCR: no evidence of association to glaucoma. Exp Eye Res. 2003;77:239-243.
59. Yilmaz A, Tamer L, Ates NA, Yildirim O, Yildirim H, Atik U. Is GST gene polymorphism a risk factor in developing exfoliation syndrome? Curr Eye Res. 2005;30:575-581.
60. Izzotti A, Sacca SC, Cartiglia C, De Flora S. Oxidative deoxyribonucleic acid damage in the eyes of glaucoma patients. Am J Med. 2003;114:638-646.
61. Yildirim O, Ates NA, Tamer L, et al. May glutathione S-transferase M1 positive genotype afford protection against primary open-angle glaucoma? Graefes Arch Clin Exp Ophthalmol. 2005;243:327-333.
62. Abu-Amero KK, Morales J, Mohamed GH, Osman MN, Bosley TM. Glutathione S-transferase M1 and T1 polymorphisms in Arab glaucoma patients. Mol Vis. 2008;14:425-430.
63. Mossbock G, Weger M, Faschinger C, et al. Methylenetetrahydrofolatereductase (MTHFR) 677C-T polymorphism and open angle glaucoma. Mol Vis. 2006;12:356-359.
64. Fingert JH, Kwon YH, Moore PA, et al. The C677T variant in the methylenetetrahydrofolate reductase gene is not associated with disease in cohorts of pseudoexfoliation glaucoma and primary open-angle glaucoma patients from Iowa. Ophthalmic Genet. 2006;27:39-41.
65. Zetterberg M, Tasa G, Palmer MS, et al. Methylenetetrahydrofolate reductase genetic polymorphisms in patients with primary openangle glaucoma. Ophthalmic Genet. 2007;28:47-50.
66. Mabuchi F, Tang S, Kashiwagi K, Yamagata Z, Iijima H, Tsukahara S. Methylenetetrahydrofolate reductase gene polymorphisms c. 677C/T and c. 1298A/C are not associated with open angle glaucoma. Mol Vis. 2006;12:735-739.
67. Micheal S, Qamar R, Akhtar F, Khan MI, Khan WA, Ahmed A. MTHFR gene C677T and A1298C polymorphisms and homocysteine levels in primary open angle and primary closed angle glaucoma. Mol Vis. 2009;15:2268-2278.
68. Woo SJ, Kim JY, Kim DM, Park SS, Ko HS, Yoo T. Investigation of the association between 677C>T and 1298A>C 5,10-methylenetetra- hydrofolate reductase gene polymorphisms and normaltension glaucoma. Eye (Lond). 2009;23:17-24.
69. Lin HJ, Tsai CH, Tsai FJ, Chen WC, Tsai SW, Fan SS. Distribution of oxidation enzyme eNOS and myeloperoxidase in primary open angle glaucoma. J Clin Lab Anal. 2005;19:87-92.
70. Logan JF, Chakravarthy U, Hughes AE, Patterson CC, Jackson JA, Rankin SJ. Evidence for association of endothelial nitric oxide synthase gene in subjects with glaucoma and a history of migraine. Invest Ophthalmol Vis Sci. 2005;46:3221-3226.
71. Ayub H, Khan MI, Micheal S, et al. Association of eNOS and HSP70 gene polymorphisms with glaucoma in Pakistani cohorts. Mol Vis. 2010;16:18-25.
72. Kang JH, Wiggs JL, Rosner BA, et al. Endothelial nitric oxide synthase gene variants and primary open-angle glaucoma: interactions with sex and postmenopausal hormone use. Invest Ophthalmol Vis Sci. 2010;51:971-979.
73. Powell BL, Toomes C, Scott S, et al. Polymorphisms in OPA1 are associated with normal tension glaucoma. Mol Vis. 2003;9:460-464.
74. Yu-Wai-Man P, Stewart JD, Hudson G, et al. OPA1 increases the risk of normal but not high tension glaucoma. J Med Genet. 2010; 47(2):120-125.
75. Mabuchi F, Tang S, Kashiwagi K, Yamagata Z, Iijima H, Tsukahara S. The OPA1 gene polymorphism is associated with normal tension and high tension glaucoma. Am J Ophthalmol. 2007;143:125-130.
76. Yao W, Jiao X, Hejtmancik JF, Leske MC, Hennis A, Nemesure B. Evaluation of the association between OPA1 polymorphisms and primary open-angle glaucoma in Barbados families. Mol Vis. 2006; 12:649-654.
77. Woo SJ, Kim DM, Kim JY, Park SS, Ko HS, Yoo T. Investigation of the association between OPA1 polymorphisms and normal-tension glaucoma in Korea. J Glaucoma. 2004;13:492-495.
78. Gorroochurn P, Hodge SE, Heiman GA, Durner M, Greenberg DA. Non-replication of association studies: "pseudo-failures" to replicate? Genet Med. 2007;9:325-331.