메뉴 건너뛰기




Volumn 52, Issue 11, 2011, Pages 8467-8478

WDR36 and P53 gene variants and susceptibility to primary open-angle glaucoma: Analysis of gene-gene interactions

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AGED; ARTICLE; CASE CONTROL STUDY; CONTROLLED STUDY; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; DNA SEQUENCE; FEMALE; GENE; GENE INTERACTION; GENETIC ASSOCIATION; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HAPLOTYPE; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; MAJOR CLINICAL STUDY; MALE; OPEN ANGLE GLAUCOMA; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; TUMOR PROTEIN 53 GENE; WD REPEAT CONTAINING PROTEIN 36 GENE; AMINO ACID SEQUENCE; GENETIC EPISTASIS; GENETIC PREDISPOSITION; GENETICS; GENOTYPE; INTRAOCULAR HYPERTENSION; INTRAOCULAR PRESSURE; MIDDLE AGED; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; REGULATORY SEQUENCE; RISK FACTOR;

EID: 84856002625     PISSN: 01460404     EISSN: 15525783     Source Type: Journal    
DOI: 10.1167/iovs.11-7489     Document Type: Article
Times cited : (27)

References (44)
  • 1
    • 33747827929 scopus 로고    scopus 로고
    • SNPStats: A web tool for the analysis of association studies
    • Sole X, Guino E, Valls J, Iniesta R, Moreno V. SNPStats: a web tool for the analysis of association studies. Bioinformatics. 2006;22: 1928-1929.
    • (2006) Bioinformatics , vol.22 , pp. 1928-1929
    • Sole, X.1    Guino, E.2    Valls, J.3    Iniesta, R.4    Moreno, V.5
  • 2
    • 13444269543 scopus 로고    scopus 로고
    • Haploview: Analysis and visualization of LD and haplotype maps
    • Barrett JC, Fry B, Maller J, Daly MJ. Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics. 2005;21:263-265.
    • (2005) Bioinformatics , vol.21 , pp. 263-265
    • Barrett, J.C.1    Fry, B.2    Maller, J.3    Daly, M.J.4
  • 3
    • 0028931857 scopus 로고
    • Multiple significance tests: The Bonferroni method
    • Bland JM, Altman DG. Multiple significance tests: the Bonferroni method. BMJ. 1995;310:170.
    • (1995) BMJ , vol.310 , pp. 170
    • Bland, J.M.1    Altman, D.G.2
  • 4
    • 18744382780 scopus 로고    scopus 로고
    • PowerMarker: An integrated analysis environment for genetic marker analysis
    • Liu K, Muse SV. PowerMarker: an integrated analysis environment for genetic marker analysis. Bioinformatics. 2005;21:2128-2129.
    • (2005) Bioinformatics , vol.21 , pp. 2128-2129
    • Liu, K.1    Muse, S.V.2
  • 5
    • 34250687101 scopus 로고    scopus 로고
    • Role of MYOC and OPTN sequence variations in Spanish patients with primary open-angle glaucoma
    • López-Martínez F, López-Garrido MP, Sanchez-Sanchez F, et al. Role of MYOC and OPTN sequence variations in Spanish patients with primary open-angle glaucoma. Mol Vis. 2007;13: 862-872.
    • (2007) Mol Vis , vol.13 , pp. 862-872
    • López-Martínez, F.1    López-Garrido, M.P.2    Sanchez-Sanchez, F.3
  • 6
    • 78049420577 scopus 로고    scopus 로고
    • MicroSNiPer: A Web tool for prediction of SNP effects on putative microRNA targets
    • Barenboim M, Zoltick BJ, Guo Y, Weinberger DR. MicroSNiPer: a Web tool for prediction of SNP effects on putative microRNA targets. Hum Mutat. 2010;31:1223-1232.
    • (2010) Hum Mutat , vol.31 , pp. 1223-1232
    • Barenboim, M.1    Zoltick, B.J.2    Guo, Y.3    Weinberger, D.R.4
  • 8
    • 45149128115 scopus 로고    scopus 로고
    • Profiling microRNA expression in hepatocellular carcinoma reveals microRNA-224 up-regulation and apoptosis inhibitor-5 as a microRNA-224-specific target
    • Wang Y, Lee AT, Ma JZ, et al. Profiling microRNA expression in hepatocellular carcinoma reveals microRNA-224 up-regulation and apoptosis inhibitor-5 as a microRNA-224-specific target. J Biol Chem. 2008;283:13205-13215.
    • (2008) J Biol Chem , vol.283 , pp. 13205-13215
    • Wang, Y.1    Lee, A.T.2    Ma, J.Z.3
  • 9
    • 65349177759 scopus 로고    scopus 로고
    • Different WDR36 mutation pattern in Chinese patients with primary openangle glaucoma
    • 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.
    • (2009) Mol Vis , vol.15 , pp. 646-653
    • Fan, B.J.1    Wang, D.Y.2    Cheng, C.Y.3    Ko, W.C.4    Lam, S.C.5    Pang, C.P.6
  • 10
    • 77955890933 scopus 로고    scopus 로고
    • Association of polymorphisms of tumor necrosis factor and tumor protein p53 with primary openangle glaucoma
    • Fan BJ, Liu K, Wang DY, et al. Association of polymorphisms of tumor necrosis factor and tumor protein p53 with primary openangle glaucoma. Invest Ophthalmol Vis Sci. 2010;51:4110-4116.
    • (2010) Invest Ophthalmol Vis Sci , vol.51 , pp. 4110-4116
    • Fan, B.J.1    Liu, K.2    Wang, D.Y.3
  • 11
  • 12
    • 33750586573 scopus 로고    scopus 로고
    • Study of a functional polymorphism in the p53 gene in systemic lupus erythematosus: Lack of replication in a Spanish population
    • Sanchez E, Sabio JM, Callejas JL, et al. Study of a functional polymorphism in the p53 gene in systemic lupus erythematosus: lack of replication in a Spanish population. Lupus. 2006;15:658-661.
    • (2006) Lupus , vol.15 , pp. 658-661
    • Sanchez, E.1    Sabio, J.M.2    Callejas, J.L.3
  • 13
    • 0037372005 scopus 로고    scopus 로고
    • The codon 72 polymorphic variants of p53 have markedly different apoptotic potential
    • Dumont P, Leu JI, Della PA III, George DL, Murphy M. The codon 72 polymorphic variants of p53 have markedly different apoptotic potential. Nat Genet. 2003;33:357-365.
    • (2003) Nat Genet , vol.33 , pp. 357-365
    • Dumont, P.1    Leu, J.I.2    della III, P.A.3    George, D.L.4    Murphy, M.5
  • 14
    • 67249117049 scopus 로고    scopus 로고
    • Potential etiologic and functional implications of genome-wide association loci for human diseases and traits
    • Hindorff LA, Sethupathy P, Junkins HA, et al. Potential etiologic and functional implications of genome-wide association loci for human diseases and traits. Proc Natl Acad Sci USA. 2009;106: 9362-9367.
    • (2009) Proc Natl Acad Sci USA , vol.106 , pp. 9362-9367
    • Hindorff, L.A.1    Sethupathy, P.2    Junkins, H.A.3
  • 15
    • 0345411335 scopus 로고    scopus 로고
    • The ubiquitous nature of epistasis in determining susceptibility to common human diseases
    • Moore JH. The ubiquitous nature of epistasis in determining susceptibility to common human diseases. Hum Hered. 2003; 56:73-82.
    • (2003) Hum Hered , vol.56 , pp. 73-82
    • Moore, J.H.1
  • 16
    • 69449103972 scopus 로고    scopus 로고
    • Epistasis and its implications for personal genetics
    • Moore JH, Williams SM. Epistasis and its implications for personal genetics. Am J Hum Genet. 2009;85:309-320.
    • (2009) Am J Hum Genet , vol.85 , pp. 309-320
    • Moore, J.H.1    Williams, S.M.2
  • 18
    • 0026642603 scopus 로고
    • An evaluation of optic disc and nerve fiber layer examinations in monitoring progression of early glaucoma damage
    • Quigley HA, Katz J, Derick RJ, Gilbert D, Sommer A. An evaluation of optic disc and nerve fiber layer examinations in monitoring progression of early glaucoma damage. Ophthalmology. 1992;99: 19-28.
    • (1992) Ophthalmology , vol.99 , pp. 19-28
    • Quigley, H.A.1    Katz, J.2    Derick, R.J.3    Gilbert, D.4    Sommer, A.5
  • 19
  • 20
    • 33745925304 scopus 로고    scopus 로고
    • Heterozygous CYP1B1 gene mutations in Spanish patients with primary open-angle glaucoma
    • López-Garrido MP, Sanchez-Sanchez F, López-Martínez F, et al. Heterozygous CYP1B1 gene mutations in Spanish patients with primary open-angle glaucoma. Mol Vis. 2006;12:748-755.
    • (2006) Mol Vis , vol.12 , pp. 748-755
    • López-Garrido, M.P.1    Sanchez-Sanchez, F.2    López-Martínez, F.3
  • 21
    • 4444315011 scopus 로고    scopus 로고
    • CYP1B1 mutations in French patients with early-onset primary open-angle glaucoma
    • Melki R, Colomb E, Lefort N, Brezin AP, Garchon HJ. CYP1B1 mutations in French patients with early-onset primary open-angle glaucoma. J Med Genet. 2004;41:647-651.
    • (2004) J Med Genet , vol.41 , pp. 647-651
    • Melki, R.1    Colomb, E.2    Lefort, N.3    Brezin, A.P.4    Garchon, H.J.5
  • 22
    • 33645860816 scopus 로고    scopus 로고
    • Primary role of CYP1B1 in Indian juvenile-onset POAG patients
    • Acharya M, Mookherjee S, Bhattacharjee A, et al. Primary role of CYP1B1 in Indian juvenile-onset POAG patients. Mol Vis. 2006;12: 399-404.
    • (2006) Mol Vis , vol.12 , pp. 399-404
    • Acharya, M.1    Mookherjee, S.2    Bhattacharjee, A.3
  • 23
    • 61849142774 scopus 로고    scopus 로고
    • CYP1B1 gene mutations in Spanish patients with primary congenital glaucoma: Phenotypic and functional variability
    • Campos-Mollo E, Lopez-Garrido MP, Blanco-Marchite C, et al. CYP1B1 gene mutations in Spanish patients with primary congenital glaucoma: phenotypic and functional variability. Mol Vis. 2009; 15:417-431.
    • (2009) Mol Vis , vol.15 , pp. 417-431
    • Campos-Mollo, E.1    Lopez-Garrido, M.P.2    Blanco-Marchite, C.3
  • 24
    • 75749114183 scopus 로고    scopus 로고
    • Heterozygous lossof-function variants in CYP1B1 predispose to primary open-angle glaucoma
    • 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.
    • (2010) Invest Ophthalmol Vis Sci , vol.51 , pp. 249-254
    • Pasutto, F.1    Chavarria-Soley, G.2    Mardin, C.Y.3
  • 25
    • 70350500461 scopus 로고    scopus 로고
    • Heterozygous NTF4 mutations impairing neurotrophin-4 signaling in patients with primary open-angle glaucoma
    • Pasutto F, Matsumoto T, Mardin CY, et al. Heterozygous NTF4 mutations impairing neurotrophin-4 signaling in patients with primary open-angle glaucoma. Am J Hum Genet. 2009;85:447-456.
    • (2009) Am J Hum Genet , vol.85 , pp. 447-456
    • Pasutto, F.1    Matsumoto, T.2    Mardin, C.Y.3
  • 26
    • 20144382615 scopus 로고    scopus 로고
    • Identification of a novel adult-onset primary open-angle glaucoma (POAG) gene on 5q22.1
    • 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.
    • (2005) Hum Mol Genet , vol.14 , pp. 725-733
    • Monemi, S.1    Spaeth, G.2    DaSilva, A.3
  • 28
    • 33947238222 scopus 로고    scopus 로고
    • No association between variations in the WDR36 gene and primary open-angle glaucoma
    • Fingert JH, Alward WL, Kwon YH, et al. No association between variations in the WDR36 gene and primary open-angle glaucoma. Arch Ophthalmol. 2007;125:434-436.
    • (2007) Arch Ophthalmol , vol.125 , pp. 434-436
    • Fingert, J.H.1    Alward, W.L.2    Kwon, Y.H.3
  • 29
    • 35448974197 scopus 로고    scopus 로고
    • Association between primary open-angle glaucoma and WDR36 DNA sequence variants in Japanese
    • Miyazawa A, Fuse N, Mengkegale M, et al. Association between primary open-angle glaucoma and WDR36 DNA sequence variants in Japanese. Mol Vis. 2007;13:1912-1919.
    • (2007) Mol Vis , vol.13 , pp. 1912-1919
    • Miyazawa, A.1    Fuse, N.2    Mengkegale, M.3
  • 30
    • 33745672351 scopus 로고    scopus 로고
    • Distribution of WDR36 DNA sequence variants in patients with primary openangle glaucoma
    • Hauser MA, Allingham RR, Linkroum K, et al. Distribution of WDR36 DNA sequence variants in patients with primary openangle glaucoma. Invest Ophthalmol Vis Sci. 2006;47:2542-2546.
    • (2006) Invest Ophthalmol Vis Sci , vol.47 , pp. 2542-2546
    • Hauser, M.A.1    Allingham, R.R.2    Linkroum, K.3
  • 31
    • 33746293357 scopus 로고    scopus 로고
    • A glaucoma casecontrol study of the WDR36 Gene D658G sequence variant
    • Hewitt AW, Dimasi DP, Mackey DA, Craig JE. A glaucoma casecontrol study of the WDR36 Gene D658G sequence variant. Am J Ophthalmol. 2006;142:324-325.
    • (2006) Am J Ophthalmol , vol.142 , pp. 324-325
    • Hewitt, A.W.1    Dimasi, D.P.2    McKey, D.A.3    Craig, J.E.4
  • 32
    • 34249308533 scopus 로고    scopus 로고
    • Variations in the WDR36 gene in German patients with normal tension glaucoma
    • Weisschuh N, Wolf C, Wissinger B, Gramer E. Variations in the WDR36 gene in German patients with normal tension glaucoma. Mol Vis. 2007;13:724-729.
    • (2007) Mol Vis , vol.13 , pp. 724-729
    • Weisschuh, N.1    Wolf, C.2    Wissinger, B.3    Gramer, E.4
  • 33
    • 48249142323 scopus 로고    scopus 로고
    • The primary open-angle glaucoma gene WDR36 functions in ribosomal RNA processing and interacts with the p53 stress-response pathway
    • 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.
    • (2008) Hum Mol Genet , vol.17 , pp. 2474-2485
    • Skarie, J.M.1    Link, B.A.2
  • 34
    • 78651097819 scopus 로고    scopus 로고
    • Lack of WDR36 leads to preimplantation embryonic lethality in mice and delays the formation of small subunit ribosomal RNA in human cells in vitro
    • Gallenberger M, Meinel DM, Kroeber M, et al. Lack of WDR36 leads to preimplantation embryonic lethality in mice and delays the formation of small subunit ribosomal RNA in human cells in vitro. Hum Mol Genet. 2011;20:422-435.
    • (2011) Hum Mol Genet , vol.20 , pp. 422-435
    • Gallenberger, M.1    Meinel, D.M.2    Kroeber, M.3
  • 36
    • 0036974265 scopus 로고    scopus 로고
    • Distribution of p53 codon 72 polymorphism in Indian primary open angle glaucoma patients
    • 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.
    • (2002) Mol Vis , vol.8 , pp. 367-371
    • Acharya, M.1    Mitra, S.2    Mukhopadhyay, A.3    Khan, M.4    Roychoudhury, S.5    Ray, K.6
  • 37
    • 0036294340 scopus 로고    scopus 로고
    • Distributions of p53 codon 72 polymorphism in primary open angle glaucoma
    • 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.
    • (2002) Br J Ophthalmol , vol.86 , pp. 767-770
    • Lin, H.J.1    Chen, W.C.2    Tsai, F.J.3    Tsai, S.W.4
  • 38
    • 33745851605 scopus 로고    scopus 로고
    • Lack of association of p53 polymorphisms and haplotypes in high and normal tension open angle glaucoma
    • 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.
    • (2005) J Med Genet , vol.42
    • Dimasi, D.P.1    Hewitt, A.W.2    Green, C.M.3    McKey, D.A.4    Craig, J.E.5
  • 39
    • 70349644502 scopus 로고    scopus 로고
    • Primary open angle glaucoma in a Caucasian population is associated with the p53 codon 72 polymorphism
    • 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.
    • (2009) Mol Vis , vol.15 , pp. 1939-1944
    • Daugherty, C.L.1    Curtis, H.2    Realini, T.3    Charlton, J.F.4    Zareparsi, S.5
  • 40
    • 67650651977 scopus 로고    scopus 로고
    • Association of polymorphisms in APOE, p53, and p21 with primary open-angle glaucoma in Turkish patients
    • 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.
    • (2009) Mol Vis , vol.15 , pp. 1270-1276
    • Saglar, E.1    Yucel, D.2    Bozkurt, B.3    Ozgul, R.K.4    Irkec, M.5    Ogus, A.6
  • 41
    • 66249100932 scopus 로고    scopus 로고
    • Lack of association between p53 gene polymorphisms and primary open angle glaucoma in the Japanese population
    • 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.
    • (2009) Mol Vis , vol.15 , pp. 1045-1049
    • Mabuchi, F.1    Sakurada, Y.2    Kashiwagi, K.3    Yamagata, Z.4    Iijima, H.5    Tsukahara, S.6
  • 42
    • 66349097522 scopus 로고    scopus 로고
    • Primary open angle glaucoma was not found to be associated with p53 codon 72 polymorphism in a Brazilian cohort
    • 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.
    • (2009) Genet Mol Res , vol.8 , pp. 268-272
    • Silva, R.E.1    Arruda, J.T.2    Rodrigues, F.W.3    Moura, K.K.4
  • 43
  • 44
    • 33645226075 scopus 로고    scopus 로고
    • A haplotype containing the p53 polymorphisms Ins16bp and Arg72Pro modifies cancer risk in BRCA2 mutation carriers
    • Osorio A, Martinez-Delgado B, Pollan M, et al. A haplotype containing the p53 polymorphisms Ins16bp and Arg72Pro modifies cancer risk in BRCA2 mutation carriers. Hum Mutat. 2006;27:242-248.
    • (2006) Hum Mutat , vol.27 , pp. 242-248
    • Osorio, A.1    Martinez-Delgado, B.2    Pollan, M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.