Evaluation of Optineurin as a candidate gene in Indian patients with primary open angle glaucoma

Molecular Vision

Volumn 11, Issue , 2005, Pages 792-797

  Mukhopadhyay, Arijit ^a,d   Komatireddy, Sreelatha ^b   Acharya, Moulinath ^a   Bhattacharjee, Ashima ^a   Mandal, Anil Kumar ^b   Thakur, Sanjay K D ^c   Chandrasekhar, Garudadri ^b   Banerjee, Arun ^c   Thomas, Ravi ^b   Chakrabarti, Subhabrata ^b   Ray, Kunal ^a  

^a INDIAN INSTITUTE OF CHEMICAL BIOLOGY   (India)

^b L V PRASAD EYE INSTITUTE   (India)

^c MEDICAL COLLEGE AND HOSPITAL   (India)

^d RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; ARGININE; ASPARAGINE; CYSTEINE; GENE PRODUCT; GLUTAMINE; LYSINE; METHIONINE; NUCLEOTIDE; OPTINEURIN; RESTRICTION ENDONUCLEASE; THREONINE; UNCLASSIFIED DRUG;

ADULT; AGED; AMPLICON; ANALYTIC METHOD; ARTICLE; ASIAN; CAUCASIAN; CLINICAL OBSERVATION; CONTROLLED STUDY; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; ETHNIC DIFFERENCE; EXON; FOLLOW UP; GENE FREQUENCY; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC CODE; GENETIC SCREENING; GENETIC VARIABILITY; HUMAN; INDIAN; INTRAOCULAR PRESSURE; INTRON; MAJOR CLINICAL STUDY; NUCLEOTIDE SEQUENCE; OPEN ANGLE GLAUCOMA; PATIENT SELECTION; PHENOTYPE; POLYMERASE CHAIN REACTION; POPULATION RESEARCH; PRIORITY JOURNAL; RISK ASSESSMENT; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; SINGLE STRAND CONFORMATION POLYMORPHISM; STATISTICAL SIGNIFICANCE;

CHROMATOGRAPHY, HIGH PRESSURE LIQUID; DNA MUTATIONAL ANALYSIS; EXONS; GLAUCOMA, OPEN-ANGLE; HUMANS; INDIA; MIDDLE AGED; MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; RISK FACTORS; TRANSCRIPTION FACTOR TFIIIA;

EID: 26244440242     PISSN: 10900535     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

References (33)

1. WuDunn D. Genetic basis of glaucoma. Curr Opin Ophthalmol 2002; 13:55-60.
2. Sarfarazi M. Recent advances in molecular genetics of glaucomas. Hum Mol Genet 1997; 6:1667-77.
3. Quigley HA. Number of people with glaucoma worldwide. Br J Ophthalmol 1996; 80:389-93.
4. Balasubramanian D. Molecular and cellular approaches to understand and treat some diseases of the eye. Curr Sci 2002; 82:948-957.
5. Goldberg I. How common is glaucoma worldwide? In: Weinreb RN, Kitazawa Y, Krieglstein G, editors. Glaucoma in the 21st century. London: Mosby-Wolfe; 2000. p. 3-8.
6. Sheffield VC, Stone EM, Alward WL, Drack AV, Johnson AT, Streb LM, Nichols BE. Genetic linkage of familial open angle glaucoma to chromosome 1q21-q31. Nat Genet 1993; 4:47-50.
7. Stoilova D, Child A, Trifan OC, Crick RP, Coakes RL, Sarfarazi M. Localization of a locus (GLC1B) for adult-onset primary open angle glaucoma to the 2cen-q13 region. Genomics 1996; 36:142-50.
8. Wirtz MK, Samples JR, Kramer PL, Rust K, Topinka JR, Yount J, Koler RD, Acott TS. Mapping a gene for adult-onset primary open-angle glaucoma to chromosome 3q. Am J Hum Genet 1997; 60:296-304.
9. Trifan OC, Traboulsi EI, Stoilova D, Alozie I, Nguyen R, Raja S, Sarfarazi M. A third locus (GLC1D) for adult-onset primary open-angle glaucoma maps to the 8q23 region. Am J Ophthalmol 1998; 126:17-28.
10. Sarfarazi M, Child A, Stoilova D, Brice G, Desai T, Trifan OC, Poinoosawmy D, Crick RP. Localization of the fourth locus (GLC1E) for adult-onset primary open-angle glaucoma to the 10p15-p14 region. Am J Hum Genet 1998; 62:641-52.
11. Wirtz MK, Samples JR, Rust K, Lie J, Nordling L, Schilling K, Acott TS, Kramer PL. GLC1F, a new primary open-angle glaucoma locus, maps to 7q35-q36. Arch Ophthalmol 1999; 117:237-41.
12. Monemi S, Spaeth G, DaSilva A, Popinchalk S, Ilitchev E, Liebmann J, Ritch R, Heon E, Crick RP, Child A, Sarfarazi M. Identification of a novel adult-onset primary open-angle glaucoma (POAG) gene ofn 5q22.1. Hum Mol Genet 2005; 14:725-33.
13. Stone EM, Fingert JH, Alward WL, Nguyen TD, Polansky JR, Sunden SL, Nishimura D, Clark AF, Nystuen A, Nichols BE, Mackey DA, Ritch R, Kalenak JW, Craven ER, Sheffield VC. Identification of a gene that causes primary open angle glaucoma. Science 1997; 275:668-70.
14. Rezaie T, Child A, Hitchings R, Brice G, Miller L, Coca-Prados M, Heon E, Krupin T, Ritch R, Kreutzer D, Crick RP, Sarfarazi M. Adult-onset primary open-angle glaucoma caused by mutations in optineurin. Science 2002; 295:1077-9.
15. Nemesure B, Jiao X, He Q, Leske MC, Wu SY, Hennis A, Mendell N, Redman J, Garchon HJ, Agarwala R, Schaffer AA, Hejtmancik F, Barbados Family Study Group. A genome-wide scan for primary open-angle glaucoma (POAG): the Barbados Family Study of Open-Angle Glaucoma. Hum Genet 2003; 112:600-9.
16. Wiggs JL, Lynch S, Ynagi G, Maselli M, Auguste J, Del Bono EA, Olson LM, Haines JL. A genomewide scan identifies novel early-onset primary open-angle glaucoma loci on 9q22 and 20p12. Am J Hum Genet 2004; 74:1314-20.
17. Allingham RR, Wiggs JL, Hauser ER, Larocque-Abramson KR, Santiago-Turla C, Broomer B, Del Bono EA, Graham FL, Haines JL, Pericak-Vance MA, Hauser MA. Early adult-onset POAG linked to 15q11-13 using ordered subset analysis. Invest Ophthalmol Vis Sci 2005; 46:2002-5.
18. 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; 10:304-14.
19. Gong G, Kosoko-Lasaki O, Haynatzki GR, Wilson MR. Genetic dissection of myocilin glaucoma. Hum Mol Genet 2004; 13[Spec Number 1]:91-102. Erratum in: Hum Mol Genet 2004; 13:991.
20. Sarfarazi M, Rezaie T. Optineurin in primary open angle glaucoma. Ophthalmol Clin North Am 2003; 16:529-41.
21. Alward WL, Kwon YH, Kawase K, Craig JE, Hayreh SS, Johnson AT, Khanna CL, Yamamoto T, Mackey DA, Roos BR, Affatigato LM, Sheffield VC, Stone EM. Evaluation of optineurin sequence variations in 1,048 patients with open-angle glaucoma. Am J Ophthalmol 2003; 136:904-10.
22. Aung T, Ebenezer ND, Brice G, Child AH, Prescott Q, Lehmann OJ, Hitchings RA, Bhattacharya SS. Prevalence of optineurin sequence variants in adult primary open angle glaucoma: implications for diagnostic testing. J Med Genet 2003; 40:e101.
23. Wiggs JL, Auguste J, Allingham RR, Flor JD, Pericak-Vance MA, Rogers K, LaRocque KR, Graham FL, Broomer B, Del Bono E, Haines JL, Hauser M. Lack of association of mutations in optineurin with disease in patients with adult-onset primary open-angle glaucoma. Arch Ophthalmol 2003; 121:1181-3.
24. Melki R, Belmouden A, Akhayat O, Brezin A, Garchon HJ. The M98K variant of the OPTINEURIN (OPTN) gene modifies initial intraocular pressure in patients with primary open angle glaucoma. J Med Genet 2003; 40:842-4.
25. Willoughby CE, Chan LL, Herd S, Billingsley G, Noordeh N, Levin AV, Buys Y, Trope G, Sarfarazi M, Heon E. Defining the pathogenicity of optineurin in juvenile open-angle glaucoma. Invest Ophthalmol Vis Sci 2004; 45:3122-30.
26. Baird PN, Richardson AJ, Craig JE, Mackey DA, Rochtchina E, Mitchell P. Analysis of optineurin (OPTN) gene mutations in subjects with and without glaucoma: the Blue Mountains Eye Study. Clin Experiment Ophthalmol 2004; 32:518-22.
27. Leung YF, Fan BJ, Lam DS, Lee WS, Tam PO, Chua JK, Tham CC, Lai JS, Fan DS, Pang CP. Different optineurin mutation pattern in primary open-angle glaucoma. Invest Ophthalmol Vis Sci 2003; 44:3880-4.
28. Toda Y, Tang S, Kashiwagi K, Mabuchi F, Iijima H, Tsukahara S, Yamagata Z. Mutations in the optineurin gene in Japanese patients with primary open-angle glaucoma and normal tension glaucoma. Am J Med Genet A 2004; 125:1-4.
29. Funayama T, Ishikawa K, Ohtake Y, Tanino T, Kurosaka D, Kimura I, Suzuki K, Ideta H, Nakamoto K, Yasuda N, Fujimaki T, Murakami A, Asaoka R, Hotta Y, Tanihara H, Kanamoto T, Mishima H, Fukuchi T, Abe H, Iwata T, Shimada N, Kudoh J, Shimizu N, Mashima Y. Variants in optineurin gene and their association with tumor necrosis factor-alpha polymorphisms in Japanese patients with glaucoma. Invest Ophthalmol Vis Sci 2004; 45:4359-67.
30. Fuse N, Takahashi K, Akiyama H, Nakazawa T, Seimiya M, Kuwahara S, Tamai M. Molecular genetic analysis of optineurin gene for primary open-angle and normal tension glaucoma in the Japanese population. J Glaucoma 2004; 13:299-303.
31. Weisschuh N, Neumann D, Wolf C, Wissinger B, Gramer E. Prevalence of myocilin and optineurin sequence variants in German normal tension glaucoma patients. Mol Vis 2005; 11:284-7.
32. Chakrabarti S, Kaur K, Komatireddy S, Acharya M, Devi KR, Mukhopadhyay A, Mandal AK, Hasnain SE, Chandrasekhar G, Thomas R, Ray K. Gln48His is the prevalent myocilin mutation in primary open angle and primary congenital glaucoma phenotypes in India. Mol Vis 2005; 11:111-3.
33. Tatusova TA, Madden TL. BLAST 2 Sequences, a new tool for comparing protein and nucleotide sequences. FEMS Microbiol Lett 1999; 174:247-50. Erratum in: FEMS Microbiol Lett 1999; 177:187-8.