Chromosome 7q31 POAG locus: Ocular expression of caveolins and lack of association with POAG in a US cohort

Molecular Vision

Volumn 17, Issue , 2011, Pages 430-435

  Kuehn, Markus H ^a   Wang, Kai ^b   Roos, Ben ^a   Stone, Edwin M ^a,c   Kwon, Young H ^a   Alward, Wallace L M ^a   Mullins, Robert F ^a   Fingert, John H ^a  

^a UNIVERSITY OF IOWA   (United States)

^b UNIVERSITY OF IOWA   (United States)

^c HOWARD HUGHES MEDICAL INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CAVEOLIN 1; CAVEOLIN 2;

ARTICLE; CHROMOSOME 7Q; CILIARY MUSCLE; COHORT ANALYSIS; CONTROLLED STUDY; GENE EXPRESSION; GENE FREQUENCY; GENE LOCUS; GENE MAPPING; GENETIC RISK; GENOTYPE; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; MAJOR CLINICAL STUDY; OPEN ANGLE GLAUCOMA; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; QUANTITATIVE ANALYSIS; RETINA; SCHLEMM CANAL; SINGLE NUCLEOTIDE POLYMORPHISM; TRABECULAR MESHWORK; UNITED STATES;

ALLELES; CAVEOLIN 1; CAVEOLIN 2; CHROMOSOMES, HUMAN, PAIR 7; COHORT STUDIES; GENE FREQUENCY; GENOTYPE; GLAUCOMA, OPEN-ANGLE; HUMANS; IMMUNOHISTOCHEMISTRY; MODELS, STATISTICAL; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE NUCLEOTIDE; RISK FACTORS; UNITED STATES;

EID: 79952141730     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

References (30)

1. Quigley HA, Broman AT. The number of people with glaucoma worldwide in 2010 and 2020. Br J Ophthalmol 2006; 90:262-7. [PMID: 16488940]
2. Friedman DS, Wolfs RC, O'Colmain BJ, Klein BE, Taylor HR, West S, Leske MC, Mitchell P, Congdon N, Kempen J. Prevalence of open-angle glaucoma among adults in the United States. Arch Ophthalmol 2004; 122:532-8. [PMID: 15078671]
3. Challa P. Glaucoma genetics. Int Ophthalmol Clin 2008; 48:73-94. [PMID: 18936638]
4. Baird PN, Foote SJ, Mackey DA, Craig J, Speed TP, Bureau A. Evidence for a novel glaucoma locus at chromosome 3p21-22. Hum Genet 2005; 117:249-57. [PMID: 15906098]
5. Fan BJ, Ko WC, Wang DY, Canlas O, Ritch R, Lam DS, Pang CP. Fine mapping of new glaucoma locus GLC1M and exclusion of neuregulin 2 as the causative gene. Mol Vis 2007; 13:779-84. [PMID: 17563728]
6. 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. [PMID: 17122119]
7. 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. [PMID: 9005853]
8. 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. [PMID: 11834836]
9. Kwon YH, Fingert JH, Kuehn MH, Alward WL. Primary openangle glaucoma. N Engl J Med 2009; 360:1113-24. [PMID: 19279343]
10. 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 openangle glaucoma. Am J Ophthalmol 2003; 136:904-10. [PMID: 14597044]
11. Sahlender DA, Roberts RC, Arden SD, Spudich G, Taylor MJ, Luzio JP, Kendrick-Jones J, Buss F. Optineurin links myosin VI to the Golgi complex and is involved in Golgi organization and exocytosis. J Cell Biol 2005; 169:285-95. [PMID: 15837803]
12. Sarfarazi M, Rezaie T. Optineurin in primary open angle glaucoma. Ophthalmol Clin North Am 2003; 16:529-41. [PMID: 14740994]
13. 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. [PMID: 15677485]
14. Hewitt AW, Dimasi DP, Mackey DA, Craig JE. A Glaucoma Case-control Study of the WDR36 Gene D658G sequence variant. Am J Ophthalmol 2006; 142:324-5. [PMID: 16876519]
15. Fingert JH, Alward WL, Kwon YH, Shankar SP, Andorf JL, Mackey DA, Sheffield VC, Stone EM. No association between variations in the WDR36 gene and primary openangle glaucoma. Arch Ophthalmol 2007; 125:434-6. [PMID: 17353431]
16. 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 Ophthalmol Vis Sci 2006; 47:2542-6. [PMID: 16723468]
17. Pasutto F, Matsumoto T, Mardin CY, Sticht H, Brandstatter JH, Michels-Rautenstrauss K, Weisschuh N, Gramer E, Ramdas WD, van Koolwijk LM, Klaver CC, Vingerling JR, Weber BH, Kruse FE, Rautenstrauss B, Barde YA, Reis A. Heterozygous NTF4 mutations impairing neurotrophin-4 signaling in patients with primary open-angle glaucoma. Am J Hum Genet 2009; 85:447-56. [PMID: 19765683]
18. Thorleifsson G, Walters GB, Hewitt AW, Masson G, Helgason A, DeWan A, Sigurdsson A, Jonasdottir A, Gudjonsson SA, Magnusson KP, Stefansson H, Lam DS, Tam PO, Gudmundsdottir GJ, Southgate L, Burdon KP, Gottfredsdottir MS, Aldred MA, Mitchell P, St Clair D, Collier DA, Tang N, Sveinsson O, Macgregor S, Martin NG, Cree AJ, Gibson J, Macleod A, Jacob A, Ennis S, Young TL, Chan JC, Karwatowski WS, Hammond CJ, Thordarson K, Zhang M, Wadelius C, Lotery AJ, Trembath RC, Pang CP, Hoh J, Craig JE, Kong A, Mackey DA, Jonasson F, Thorsteinsdottir U, Stefansson K. Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma. Nat Genet 2010; 42:906-9. [PMID: 20835238]
19. Alward WL, Fingert JH, Coote MA, Johnson AT, Lerner SF, Junqua D, Durcan FJ, McCartney PJ, Mackey DA, Sheffield VC, Stone EM. Clinical features associated with mutations in the chromosome 1 open-angle glaucoma gene (GLC1A). N Engl J Med 1998; 9:1022-7. [PMID: 9535666]
20. Buffone GJ, Darlinton GJ. Isolation of DNA from Biological Specimens without Extraction with Phenol. Clin Chem 1985; 31:164-5. [PMID: 3965205]
21. Parton RG, Simons K. The multiple faces of caveolae. Nat Rev Mol Cell Biol 2007; 8:185-94. [PMID: 17318224]
22. Borrás T. Gene expression in the trabecular meshwork and the influence of intraocular pressure. Prog Retin Eye Res 2003; 22:435-63. [PMID: 12742391]
23. Gonzalez P, Epstein DL, Borras T. Characterization of gene expression in human trabecular meshwork using single-pass sequencing of 1060 clones. Invest Ophthalmol Vis Sci 2000; 41:3678-93. [PMID: 11053263]
24. Berta AI, Kiss AL, Kemeny-Beke A, Lukats A, Szabo A, Szel A. Different caveolin isoforms in the retina of melanoma malignum affected human eye. Mol Vis 2007; 13:881-6. [PMID: 17615539]
25. Chang SH, Feng D, Nagy JA, Sciuto TE, Dvorak AM, Dvorak HF. Vascular permeability and pathological angiogenesis in caveolin-1-null mice. Am J Pathol 2009; 175:1768-76. [PMID: 19729487]
26. Kim H, Lee T, Lee J, Ahn M, Moon C, Wie MB, Shin T. Immunohistochemical study of caveolin-1 and -2 in the rat retina. J Vet Sci 2006; 7:101-4. [PMID: 16645331]
27. International HapMap Project Website. http://www.hapmap.org/index.html.enhttp://www.hapmap.org/index.html.en
28. Jonasson F, Damji KF, Arnarsson A, Sverrisson T, Wang L, Sasaki H, Sasaki K. Prevalence of open-angle glaucoma in Iceland: Reykjavik Eye Study. Eye (Lond) 2003; 17:747-53. [PMID: 12928689]
29. Hiller R, Sperduto RD, Krueger DE. Pseudoexfoliation, intraocular pressure, and senile lens changes in a populationbased survey. Arch Ophthalmol 1982; 100:1080-2. [PMID: 7092647]
30. Ritch R, Schlötzer-Schrehardt U. Exfoliation syndrome. Surv Ophthalmol 2001; 45:265-315. [PMID: 11166342]