Polymorphisms of myocilin and optineurin in primary open angle glaucoma patients

National Medical Journal of China

Volumn 86, Issue 8, 2006, Pages 554-559

  Yao, Hong Yan ^a   Cheng, Ching Yu ^a   Fan, Bao Jian ^a   Tam, Oi Sin ^a   Tham, Chee Yung ^a   Wang, Dan Yi ^a   Lam, Shun Chui ^a   Pang, Chi Pui ^a  

^a CHINESE UNIVERSITY OF HONG KONG   (Hong Kong)

Author keywords

Gene; Glaucoma, open angle; Mutation

Indexed keywords

EYE PROTEIN; MYOCILIN; OPTINEURIN; UNCLASSIFIED DRUG;

AMINO ACID SEQUENCE; ARTICLE; AUTOMATION; CHINESE; CONTROLLED STUDY; DNA SEQUENCE; FLUORESCENCE ANALYSIS; GEL ELECTROPHORESIS; GENE FREQUENCY; GENETIC ASSOCIATION; GENETIC IDENTIFICATION; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; NUCLEOTIDE SEQUENCE; OPEN ANGLE GLAUCOMA; PATHOGENESIS; POLYMERASE CHAIN REACTION; PROMOTER REGION; SINGLE NUCLEOTIDE POLYMORPHISM;

AGED; AGED, 80 AND OVER; CYTOSKELETAL PROTEINS; DNA MUTATIONAL ANALYSIS; EYE PROTEINS; FEMALE; GENE FREQUENCY; GENOTYPE; GLAUCOMA, OPEN-ANGLE; GLYCOPROTEINS; HUMANS; MALE; MIDDLE AGED; MUTATION; POLYMORPHISM, SINGLE NUCLEOTIDE; TRANSCRIPTION FACTOR TFIIIA;

EID: 33646125608     PISSN: 03762491     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (26)

1. Wolfs RC, Klaver CC, Ramrattan RS, et al. Genetic risk of primary open-angle glaucoma. Population-based familial aggregation study. Arch Ophthalmol, 1998, 116: 1640-1645.
2. Sheffield VC, Stone EM, Alward WL, et al. Genetic linkage of familial open angle glaucoma to chromosome 1 q21-q31. Nat Genet, 1993, 4: 47-50.
3. Stoilova D, Child A, Trifan OC, et al. Localization of a locus (GLC1B) for adult-onset primary open angle glaucoma to the 2cenq13 region. Genomics, 1996, 36: 142-150.
4. Wirtz MK, Samples JR, Kramer PL, et al. Mapping a gene for adult-onset primary open-angle glaucoma to chromosome 3q. Am J Hum Genet, 1997, 60: 296-304.
5. Trifan OC, Traboulsi EI, Stoilova D, et al. A third locus (GLC1D) for adult-onset primary open-angle glaucoma maps to the 8q23 region. Am J Ophthalmol, 1998, 126: 17-28.
6. Sarfarazi M, Child A, Stoilova D, et al. Localization of the fourth locus (GLC1E) for adult-onset primary open-angle glaucoma to the 10p15-p14 region. Am J Hum Genet, 1998, 62: 641-652.
7. Wirtz MK, Samples JR, Rust K, et al. GLC1F, a new primary open-angle glaucoma locus, maps to 7q35-q36. Arch Ophthalmol, 1999, 117: 237-241.
8. 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.
9. Lam DS, Leung YF, Chua JK, et al. Truncations in the TIGR gene in individuals with and without primary open-angle glaucoma. Invest Ophthalmol Vis Sci, 2000, 41: 1386-1391.
10. Leung YF, Fan BJ, Lam DS, et al. Different optineurin mutation pattern in primary open-angle glaucoma. Invest Ophthalmol Vis Sci, 2003, 44: 3880-3884.
11. Challa P. Glaucoma genetics: advancing new understandings of glaucoma pathogenesis. Int Ophthalmol Clin, 2004, 44: 167-185.
12. Rezaie T. Child A, Hitchings R, et al. Adult-onset primary open-angle glaucoma caused by mutations in optineurin. Science, 2002, 295: 1077-1079.
13. Gong G, Kosoko-Lasaki O, Haynatzki GR, et al. Genetic dissection of myocilin glaucoma. Hum Mol Genet, 2004, R91-102.
14. Chinese source. 2000, 36: 416-419.
15. Pang CP, Leung YF, Fan BJ, et al. TIGR/MYOC gene sequence alterations in individuals with and without primary open-angle glaucoma. Invest Ophthalmol Vis Sci, 2002, 43: 3231-3235.
16. Chinese source. 2002, 82: 743-747.
17. Chinese source. 2004, 84: 1098-1102.
18. Willoughby CE, Chan LL, Herd S, et al. Defining the pathogenicity of optineurin in juvenile open-angle glaucoma. Invest Ophthalmol Vis Sci, 2004, 45: 3122-3130.
19. Weisschuh N, Neumann D, Wolf C, et al. Prevalence of myocilin and optineurin sequence variants in German normal tension glaucoma patients. Mol Vis, 2005, 11: 284-287.
20. Ge J, Zhuo YH, Guo Y, et al. Gene mutation in patients with primary open-angle glaucoma in a pedigree in China. Chin Med J, 2000, 113: 195-197.
21. Pang CP, Leung YF, Chua JK, et al. Novel TIGR sequence alteration Val53Ala. Hum Mutat, 2000, 15: 122.
22. Funayama T, Ishikawa K, Ohtake Y, et al. Variants in optineurin gene and their association with tumor necrosis factor-alpha polymorphisms in Japanese patients with glaucoma. Invest Ophthalmol. Vis Sci, 2004, 45: 4359-4367.
23. Saura M, Cabana M, Ayuso C, et al. Mutations including the promoter region of myocilin/TIGR gene. Eur J Hum Genet, 2005, 13: 384-387.
24. Fan BJ, Leung YF, Pang CP, et al. Polymorphisms in the myocilin promoter unrelated to the risk and severity of primary open-angle glaucoma. J Glaucoma, 2004, 13: 377-384.
25. Fan BJ, Leung YF, Wang N, et al. Genetic and environmental risk factors for primary open-angle glaucoma. Chin Med J, 2004, 117: 706-710.
26. 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.