Fine mapping of the GLC1K juvenile primary open-angle glaucoma locus and exclusion of candidate genes

Molecular Vision

Volumn 14, Issue , 2008, Pages 1319-1326

  Sud, A ^a   Del Bono, E A ^a   Haines, J L ^b   Wiggs, Janey L ^a  

^a MASSACHUSETTS EYE AND EAR INFIRMARY   (United States)

^b VANDERBILT UNIVERSITY MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BONE MORPHOGENETIC PROTEIN 2; BTB POZ DOMAIN CONTAINING 3 PROTEIN; GENE PRODUCT; GENOMIC DNA; PHOSPHOLIPASE C BETA1; PHOSPHOLIPASE C BETA4;

ARTICLE; CHROMOSOME 20P; CLINICAL ARTICLE; DNA SEQUENCE; GENE EXPRESSION; GENE FUNCTION; GENE IDENTIFICATION; GENE LOCUS; GENE MAPPING; GENE MUTATION; GENE SEQUENCE; GENETIC LINKAGE; GENETIC MARKER; GENETIC VARIABILITY; HAPLOTYPE; HUMAN; HUMAN CELL; HUMAN TISSUE; JUVENILE ONSET OPEN ANGLE GLAUCOMA; MOLECULAR DYNAMICS; OPEN ANGLE GLAUCOMA; PATHOPHYSIOLOGY; PRIORITY JOURNAL; RETINA GANGLION CELL; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM;

CHROMOSOMES, HUMAN, PAIR 20; FEMALE; GLAUCOMA, OPEN-ANGLE; HAPLOTYPES; HUMANS; MALE; MUTATION; PEDIGREE; PHYSICAL CHROMOSOME MAPPING;

EID: 48249134013     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

References (49)

1. Quigley RA, Broman AT. The number of people with glaucoma worldwide in 2010 and 2020. Br J Ophthalmol 2006; 90:262-77.
2. Friedman DS, Wolfs RC, O'Colmain BJ, Klein BE, Taylor HR, West S, Leske MC, Mitchell P, Congdon N, Kempen J, Eye Diseases Prevalence Research Group. Prevalence of open-angle glaucoma among adults in the United States. Arch Ophthal 2004; 122:532-8.
3. Farkas RH, Grosskreutz CL. Apoptosis, neuroprotection, and retinal ganglion cell death: an overview. Int Ophthalmol Clin 2001; 41:111-30.
4. Tielsch JM, Sommer A, Katz J, Royall RM, Quigley HA, Javitt J. Racial variation in the prevalence of primary open-angle glaucoma. The Baltimore Eye Survey. JAMA 1991; 266:369-74.
5. Klein BE, Klein R, Sponsel WE, Franke T, Cantor LB, Martone J, Menage MJ. Prevalence of glaucoma. The Beaver Dam Eye Study. Ophthalmology 1992; 99:1499-504.
6. Leske MC, Connel AM, Schachat AP, Hyman L. The Barbados Eye Study: prevalence of open angle glaucoma. Arch Ophthalmol 1994; 112:821-9.
7. Wiggs JL, Del Bono EA, Schauman JS, Hutchinson BT, Walton DS. Clinical features of five pedigrees genetically linked to the juvenile glaucoma locus on chromosome 1q21-q31. Ophthalmology 1995; 102:1782-9.
8. Weih LM, Nanjan M, McCarty CA, Taylor HR. Prevalence and predictors of open-angle glaucoma: results from the visual impairment project. Ophthalmology 2001; 108:19667-72.
9. Wiggs JL, Damji KF, Haines JL, Pericak-Vance MA, Allingham RR. The distinction between: juvenile and adult-onset primary open angle glaucoma. Am J Hum Genet 1996; 58:243-4.
10. Hewitt AW, Craig JE, Mackey DA. Complex genetics of complex traits: the case of primary open-angle glaucoma. Clin Experiment Ophthahnol 2006; 34:472-84.
11. Wiggs JL. Genetic etiologies of Glaucoma. Arch Ophthal 2007; 125:30-7.
12. Wang DY, Fan BJ, Chua JK, Tam PO, Leung CK, Lam DS, Pang CP. A genome-wide scan maps a novel juvenile-onset primary open angle glaucoma locus to 15q. Invest Ophthalmol Vis Sci 2006; 47:5315-21.
13. Fan BJ, Wang DY, Lain DS, Pang CP. Gene mapping for primary open angle glaucoma. Clin Biochem 2006; 39:249-58.
14. Wiggs JL, Allingliam RR, Hossain A, Kern J, Auguste J, DelBono EA, Broomer B, Graham FL, Hauser M, Pericak-Vance M, Haines JL. Genome-wide scan for adult-onset primary open angle glaucoma. Hum Mol Genet 2000; 9: 1109-17.
15. 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.
16. 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.
17. 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 on 5q22.1. Hum Mol Genet 2005; 14:725-33.
18. Hauser MA, Allingham RR, Linkroum K, Wang J, LaRocque-Abramson K, Figueiredo D, Santiago-Turla C, del Bono EA, Haines JL, Pericak-Vance MA, Wiggs JL. Distribution of WDR36 DNA sequence variants in patients with primary open-angle glaucoma. Invest Opthalmol Vis Sci 2006; 47:2542-6.
19. Wiggs JL, Allingham RR, Vollrath D, Jones KH, De La Paz M, Kern J, Patterson K, Babb VL, Del Bono EA, Broomer BW, Pericak-Vance MA, Haines JL. Prevalence of mutations in TIGR/Myocilin in patients with adult and juvenile primary open-angle glaucoma. Am J Hum Genet 1998; 63:1549-52.
20. Fingert JH, Heon E, Liebman JM, Yamamoto T, Craig JE, Rait J, Kawase K, Hoh ST, Buys YM, Dickinson J, Hockey RR, Williams-Lyn D, Trope G, Kitazawa Y, Ritch R, Mackey DA, Alward WL, Sheffield VC, Stone EM. Analysis of myocilin mutations in 1703 glaucoma patients from five different populations. Hum Mol Genet 1999; 8:899-905.
21. Bruttini M, Longo I, Frezzoti P, Ciappetta R, Randazzo A, Orzalesi N, Fumagalli E, Caporossi A, Frezzotti R, Renieri A. Mutations in the myocilin gene in families with primary open-angle glaucoma and juvenile open-angle glaucoma. Arch Ophthalmol 2003; 121:1034-103.
22. 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.
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 Ophthal 2003; 121:1181-3.
24. Tang S, Toda Y, Kashiwagi K, Mabuchi F, Iijima H, Tsukahara S, Yamagata Z. The association between Japanese primary open-angle glaucoma and normal tension glaucoma patients and the optineurin gene. Hum Genet 2003; 113:276-9.
25. 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; 44:3380-4.
26. 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.
27. 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.
28. Lin Y, Liu T, Li J, Yang J, Du Q, Wang J, Yang Y, Liu X, Fan Y, Lu F, Chen Y, Pu Y, Zhang K, He X, Yang Z. A genome-wide scan maps a novel autosomal dominant juvenile-onset open-angle glaucoma locus to 2p15-16. Mol Vis 2008; 14:739-44.
29. De La Vega FM, Isaac HI, Scafe CR. A tool for selecting SNPs for association studies based on observed linkage disequilibrium patterns. Pac Symp Biocomput 2006:487-98.
30. Sobel E, Sengul H, Weeks DE. Multipoint estimation of identity-by-descent probabilities at arbitrary positions among marker loci on general pedigrees. Hum Hered 2001; 52:121-31.
31. Kent WJ, Sugnet CW, Furey TS, Roskin KM, Pringle TH, Zahler AM, Haussler D. The Human Genome Browser at UCSC. Genome Res 2002; 12:996-1006.
32. International Human Genome Sequencing Consortium. Initial sequencing and analysis of the human genome. Nature 2001; 409:860-921.
33. Kerrison JB, Lewis RN, Otteson DC, Zack DJ. Bone morphogenetic proteins promote neurite outgrowth in retinal ganglion cells. Mol Vis 2005; 11:208-15.
34. Wordinger RJ, Agarwal R, Talati M, Fuller J, Lambert W, Clark AF. Expression of bone morphogenetic proteins (BMP), BMP receptors, and BMP associated proteins in human trabecular meshwork and optic nerve head cells and tissues. Mol Vis 2002; 8:241-50.
35. Husain S, Kaddour-Djebbar I, Abdel-Latif AA. Alterations in arachidonic acid release and phospholipase C-beta(1) expression in glaucomatous human ciliary muscle cells. Invest Ophthalmol Vis Sci 2002; 43:1127-34.
36. Jiang H, Lyubarsky A, Dodd R, Vardi N, Pugh E, Baylor D, Simon MI, Wu D. Phospholipase C beta 4 is involved in modulating the visual response in mice. Proc Natl Acad Sci USA 1996; 93:14598-601.
37. Collins T, Stone JR, Williams AJ. All in the family: the BTB/POZ, KRAB, and SCAN domains. Mol Cell Biol 2001; 21:3609-15.
38. Rusconi JC, Challa U. Drosophila Mrityu encodes a BTB/POZ domain-containing protein and is expressed dynamically during development. Int J Dev Biol 2007; 51:259-63.
39. Wen Y, Nguyen D, Li Y, Lai ZC. The N-terminal BTB/POZ domain and C-terminal sequences are essential for Tramtrack69 to specify cell fate in the developing Drosophila eye. Genetics 2000; 156:195-203.
40. Marinelli RJ, Montgomery K, Liu CL, Shah NH, Prapong W, Nitzberg M, Zachariah ZK, Sherlock GJ, Natkunam Y, West RB, van de Rijn M, Brown PO, Ball CA. The Stanford Tissue Microarray Database. Nucleic Acids Res 2008; 36:D871-7.
41. Wheeler DL, Barrett T, Benson DA, Bryant SH, Canese K, Chetvernin V, Church DM, Dicuccio M, Edgar R, Federhen S, Feolo M, Geer LY, Helmberg W, Kapustin Y, Khovayko O, Landsman D, Lipman DJ, Madden TL, Maglott DR, Miller V, Ostell J, Pruitt KD, Schuler GD, Shumway M, Sequeira E, Sherry ST, Sirotkin K, Souvorov A, Starchenko G, Tatusov RL, Tatusova TA, Wagner L, Yaschenko E. Database resources of the National Center for Biotechnology Information. Nucleic Acids Res 2008; 36:D13-21.
42. Wistow G. The NEIBank project for ocular genomics: data-mining gene expression in human and rodent eye tissues. Prog Retin Eye Res 2006; 25:43-77.
43. Dy P, Penzo-Méndez A, Wang H, Pedraza CE, Macklin WB, Lefebvre V. The three SoxC proteins-Sox4, Sox11 and Sox12-exhibit overlapping expression patterns and molecular properties. Nucleic Acids Res 2008; 36:3101-17.
44. Ishihara T, Ikeda K, Sato S, Yajima H, Kawakami K. Differential expression of Eya1 and Eya2 during chick early embryonic development. Gene Expr Patterns 2008; 8:357-67.
45. Harvey SA, Logan MP. sall4 acts downstream of tbx5 and is required for pectoral fin outgrowth. Development 2006; 133:1165-73.
46. Héon E, Greenberg A, Kopp KK, Rootman D, Vincent AL, Billingsley G, Priston M, Dorval KM, Chow RL, McInnes RR, Heathcote G, Westall C, Sutphin JE, Semina E, Bremner R, Stone EM. VSX1: a gene for posterior polymorphous dystrophy and keratoconus. Hum Mol Genet 2002; 11:1029-36.
47. Shimizu S, Krafchak C, Fuse N, Epstein MP, Schteingart MT, Sugar A, Eibschitz-Tsimhoni M, Downs CA, Rozsa F, Trager EH, Reed DM, Boehnke M, Moroi SE, Richards JE. A locus for posterior polymorphous corneal dystrophy (PPCD3) maps to chromosome 10. Am J Med Genet A 2004; 130A:372-7.
48. Vieira H, Gregory-Evans K, Lim N, Brookes JL, Brueton LA, Gregory-Evans CY. First genomic localization of oculo-otodental syndrome with linkage to chromosome 20q13.1. Invest Ophthalmol Vis Sci 2002; 43:2540-5.
49. Hewitt AW, Mackey DA, Craig JE. Myocilin allele-specific glaucoma phenotype database. Hum Mutat 2008; 29:207-11.