SNPs and interaction analyses of noelin 2, myocilin, and optineurin genes in Japanese patients with open-angle glaucoma

Investigative Ophthalmology and Visual Science

Volumn 47, Issue 12, 2006, Pages 5368-5375

  Funayama, Tomoyo ^a   Mashima, Yukihiko ^a   Ohtake, Yuichiro ^a   Ishikawa, Karin ^a   Fuse, Nobuo ^b   Yasuda, Noriko ^c   Fukuchi, Takeo ^d   Murakami, Akira ^e   Hotta, Yoshihiro ^f   Shimada, Naoki ^a  

^a KEIO UNIVERSITY   (Japan)

^b TOHOKU UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^c TOKYO METROPOLITAN POLICE HOSPITAL   (Japan)

^d NIIGATA UNIVERSITY GRADUATE SCHOOL OF MEDICAL AND DENTAL SCIENCES   (Japan)

^e JUNTENDO UNIVERSITY   (Japan)

^f HAMAMATSU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE DERIVATIVE; MYOCILIN; NOELIN 2; OPTINEURIN; PROTEIN DERIVATIVE; UNCLASSIFIED DRUG; CYTOSKELETON PROTEIN; EYE PROTEIN; GLYCOPROTEIN; OLFACTOMEDIN; OPTN PROTEIN, HUMAN; SCLEROPROTEIN; TRABECULAR MESHWORK-INDUCED GLUCOCORTICOID RESPONSE PROTEIN; TRANSCRIPTION FACTOR IIIA;

ADULT; AGED; ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; EXON; GENE; GENE INTERACTION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENOTYPE; HUMAN; HUMAN CELL; INTRAOCULAR PRESSURE; INTRAOCULAR PRESSURE ABNORMALITY; JAPANESE; LOGISTIC REGRESSION ANALYSIS; MAJOR CLINICAL STUDY; NUCLEOTIDE SEQUENCE; OPEN ANGLE GLAUCOMA; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN INTERACTION; RATING SCALE; SINGLE NUCLEOTIDE POLYMORPHISM; STATISTICAL SIGNIFICANCE; UNIVARIATE ANALYSIS; VISUAL FIELD; ASIAN; CLINICAL TRIAL; GENETICS; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; INTRAOCULAR HYPERTENSION; JAPAN; MIDDLE AGED; MULTICENTER STUDY; MUTATION; POLYMERASE CHAIN REACTION;

ADULT; AGED; ASIAN CONTINENTAL ANCESTRY GROUP; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; CYTOSKELETAL PROTEINS; DNA MUTATIONAL ANALYSIS; EXTRACELLULAR MATRIX PROTEINS; EYE PROTEINS; GENOTYPE; GLAUCOMA, OPEN-ANGLE; GLYCOPROTEINS; HUMANS; INTRAOCULAR PRESSURE; JAPAN; MIDDLE AGED; MUTATION; OCULAR HYPERTENSION; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEIN INTERACTION MAPPING; TRANSCRIPTION FACTOR TFIIIA;

EID: 34248161997     PISSN: 01460404     EISSN: None     Source Type: Journal    
DOI: 10.1167/iovs.06-0196     Document Type: Article

References (42)

1. Quigley HA, Broman AT. The number of people with glaucoma worldwide in 2010 and 2020. Br J Ophthalmol. 2006;90:262-267.
2. Heijl A, Leske MC, Bengtsson B, et al. The Early Manifest Glaucoma Trial Group. Reduction of intraocular pressure and glaucoma progression: results from the early manifest glaucoma trial. Arch Ophthalmol. 2002;120:1268-1279.
3. Fan BJ, Wang DY, Lam DSC, Pang CP. Gene mapping for primary open angle glaucoma. Clin Biochem. 2006;39:249-58.
4. Stone EM, Fingert JH, Alward WLM, et al. Identification of a gene that causes primary open angle glaucoma. Science. 1997;275:668-670.
5. Kubota R, Noda S, Wang Y, et al. A novel Myosin-like protein (Myocilin) expressed in the connecting cilium of the photoreceptor: molecular cloning, tissue expression, and chromosomal mapping. Genomics. 1997;41:360-369.
6. Adam MF, Belmouden A, Binisti P, et al. Recurrent mutations in a single exon encoding the evolutionarily conserved olfactomedin-homology domain of TIGR in familial open-angle glaucoma. Hum Mol Genet. 1997;6:2091-2097.
7. Ortego J, Escribano J, Coca-Prados M. Cloning and characterization of subtracted cDNAs from a human ciliary body library encoding TIGR, a protein involved in juvenile open angle glaucoma with homology to myosin and olfactomedin. FEBS Lett. 1997;413:349-353.
8. Suzuki Y, Shirato S, Taniguchi F, et al. Mutations in the TIGR gene in familial primary open-angle glaucoma in Japan. Am J Hum Genet. 1997;61:1202-1204.
9. Mansergh FC, Kenna PF, Ayuso C, et al. Novel mutations in the TIGR gene in early and late onset open angle glaucoma. Hum Mutat. 1998;11:244-251.
10. Alward WLM, Fingert JH, Coote MA, et al. Clinical features associ-ated with mutation in the chromosome 1 open-angle glaucoma gene (GLC1A). N Engl J Med. 1998;338:1022-1027.
11. Michels-Rautenstrauss KG, Mardin CY, Budde WM, et al. Juvenile open angle glaucoma: fine mapping of the TIGR gene to 1q24.3-q25.2 and mutation analysis. Hum Genet. 1998;102:103-106.
12. Angius A, Gioia ED, Loi A, et al. A novel mutation in the GLC1A gene causes juvenile open-angle glaucoma in 4 families from the Italian region of Puglia. Arch Ophthalmol. 1998;116:793-797.
13. Yoon SJK, Kim HS, Moon JI, Lim JM, Joo CK. Mutations of the TIGR/MYOC gene in primary open-angle glaucoma in Korea. Am J Hum Genet. 1999;64:1775-1778.
14. Fingert JH, Héon E, Liebmann JM, et al. Analysis of myocilin mutations in 1703 glaucoma patients from five different populations. Hum Mol Genet. 1999;8:899-905.
15. Lam DSC, Leung YF, Chua JKH, et al. Truncations in the TIGR gene in individuals with and without primary open-angle glaucoma. Invest Ophthalmol Vis Sci. 2000;41:1386-1391.
16. Shimizu S, Lichter PR, Johnson AT, et al. Age-dependent prevalence of mutations at the GLC1A locus in primary open-angle glaucoma. Am J Ophthalmol. 2000;130:165-177.
17. Faucher M, Anctil JL, Rodrigue MA, et al. Founder TIGR/myocitin mutations for glaucoma in the Quebec population. Hum Mol Genet. 2002;11:2077-2090.
18. Gong G, Kosako-Lasaki O, Haynatzki GR, Wilson MR. Genetic dissection of myocilin glaucoma. Hum Mol Genet. 2004;13:R91-R102.
19. Mukhopadhyay A, Talukdar S, Bhattacharjee A, Ray K. Bioinformatic approaches for identification and characterization of olfactomedin related genes with a potential role in pathogenesis of ocular disorders. Mol Vis. 2004;10:304-314.
20. Altschul SF, Gish W, Miller W, Myers EW, Lipman DJ. Basic local alignment search tool. J Mol Biol. 1990;215:403-410.
21. Tatusova TA, Madden TL. BLAST 2 Sequences, a new tool for comparing protein and nucleotide sequences (published correction appears in FEMS Microbiol Lett. 1999;174:247-250) FEMS Microbiol Lett. 1999;177:187-188.
22. Tomarev SI, Wistow G, Raymond V, Dubois S, Malyukova I. Gene expression profile of the human trabecular meshwork: NEIBank sequence tag analysis. Invest Ophthalmol Vis Sci. 2003;44:2588-2596.
23. Torrado M, Trivedi R, Zinovieva R, Karavanova I, Tomarev SI. Optimedin: a novel olfactomedin-related protein that interacts with myocilin. Hum Mol Genet. 2002;11:1291-1301.
24. Henikoff S, Henikoff JG. Amino acid substitution matrices from protein blocks. Proc Natl Acad Sci USA. 1992;89:10915-10919.
25. Saitou N, Nei M. The neighbor-joining method: a new method for reconstructing phylogenetic trees. Mol Biol Evol. 1987;4:406-425.
26. Wilson MR. Epidemiology of chronic open-angle glaucoma. In: Ritch R, Shields MB, Krupin T, ed. Clinical Science. St. Louis: Mosby; 1996:753-768. The Glaucomas. Vol. 2.
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. Copin B, Brézin AP, Valtot F, et al. Apolipoprotein E-promoter single-nucleotide polymorphisms affect the phenotype of primary open-angle glaucoma and demonstrate interaction with the myocilin gene. Am J Hum Genet. 2002;70:1575-1581.
29. Fan BJ, Wang DY, Fan DSP, et al. SNPs and interaction analyses of myocilin, optineurin, and apolipoprotein E in primary open angle glaucoma patients. Mol Vis. 2005;11:625-631.
30. Funayama T, Ishikawa K, Ohtake Y, et al. Variants in optineurin gene and their association with tumor necrosis factor-α polymorphisms in Japanese patients with glaucoma. Invest Ophthalmol Vis Sci. 2004;45:4359-4367.
31. Ishikawa K, Funayama T, Ohtake Y, et al. Novel MYOC gene mutation, Phe369Leu, in Japanese patients with primary open-angle glaucoma detected by denaturing high-performance liquid chromatography. J Glaucoma. 2004;13:466-471.
32. Brézin AP, Béchetoille A, Hamard P, et al. Genetic heterogeneity of primary open angle glaucoma and ocular hypertension: linkage to GLC1A associated with an increased risk of severe glaucomatous optic neuropathy. J Med Genet. 1997;34:546-552.
33. Hosoda M, Hirano T, Tsukahara S. Mode of progression of visual field defects and risk factors in glaucoma patients (in Japanese). J Jpn Ophthalmol Soc. 1997;101:593-597.
34. Kozaki J, Kozaki H, Kozaki R. Twenty-year follow-up of visual field defects in primary glaucoma eyes (in Japanese). J Jpn Ophthalmol Soc. 1999;103:18-25.
35. Anderson DR, Patella VM. Automated Static Perimetry. 2nd ed. St. Louis: Mosby; 1999:164.
36. Lyamichev V, Mast AL, Hall JG, et al. Polymorphism identification and quantitative detection of genomic DNA by invasive cleavage of oligonucleotide probes. Nat Biotechnol. 1999;17:292-296.
37. Thompson JD, Higgins DG, Gibson TJ. CLUSTAL W: improving the sensitivity of progressive multiple sequence alignment through sequence weighting, position-specific gap penalties and weight matrix choice. Nucleic Acids Res. 1994;22:4673-4680.
38. Herndon LW, Choudhri SA, Cox T, et al. Central corneal thickness in normal, glaucomatous, and ocular hypertensive eyes. Arch Ophthalmol. 1997;115:1137-1141.
39. Shah S, Chatterjee A, Mathai M, et al. Relationship between corneal thickness and measured intraocular pressure in a general ophthalmology clinic. Ophthalmology. 1999;106:2154-2160.
40. Ventura ACS, Böhnke M, Mojon DS. Central corneal thickness measurements in patients with normal tension glaucoma, primary open angle glaucoma, pseudoexfoliation glaucoma, or ocular hypertension. Br J Ophthalmol. 2001;85:792-795.
41. Iwase A, Suzuki Y, Araie M, et al. The prevalence of primary open-angle glaucoma in Japanese. The Tajimi Study. Ophthalmology. 2004;111:1641-1648.
42. Suzuki S, Suzuki Y, Iwase A, Araie M. Corneal thickness in an ophthalmologically normal Japanese population. Ophthalmology. 2005;112:1327-1336.