The LOXL1 gene variations are not associated with primary open-angle and primary angle-closure glaucomas

Investigative Ophthalmology and Visual Science

Volumn 49, Issue 6, 2008, Pages 2343-2347

  Chakrabarti, Subhabrata ^a   Rao, Kollu Nageswara ^a   Kaur, Inderjeet ^a   Parikh, Rajul S ^a   Mandal, Anil K ^a   Chandrasekhar, Garudadri ^a   Thomas, Ravi ^a,b  

^a L V PRASAD EYE INSTITUTE   (India)

^b QUEENSLAND EYE INSTITUTE   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; BLOOD SAMPLING; CONTROLLED STUDY; EXFOLIATION SYNDROME; GENE; GENE FREQUENCY; GENE LINKAGE DISEQUILIBRIUM; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC SCREENING; GENETIC VARIABILITY; GLAUCOMA; HAPLOTYPE; HUMAN; LOXL1 GENE; MAJOR CLINICAL STUDY; OPEN ANGLE GLAUCOMA; POLYMERASE CHAIN REACTION; PRIMARY ANGLE CLOSURE GLAUCOMA; PRIORITY JOURNAL; RESTRICTION FRAGMENT; SINGLE NUCLEOTIDE POLYMORPHISM; ADULT; CHEMISTRY; CLOSED ANGLE GLAUCOMA; ETHNOLOGY; GENETICS; INDIA;

LOXL1 PROTEIN, HUMAN; OXIDOREDUCTASE; PRIMER DNA;

ADULT; AMINO ACID OXIDOREDUCTASES; DNA PRIMERS; GLAUCOMA, ANGLE-CLOSURE; GLAUCOMA, OPEN-ANGLE; HAPLOTYPES; HUMANS; INDIA; LINKAGE DISEQUILIBRIUM; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 47249148389     PISSN: 01460404     EISSN: 15525783     Source Type: Journal    
DOI: 10.1167/iovs.07-1557     Document Type: Article

References (43)

1. Resnikoff S, Pascoloni D, Etya'ale D, et al. Global data on visual impairment in the year 2002. Bull World Health Org. 2004;82:844-851.
2. Quigley HA, Broman AT. The number of people with glaucoma worldwide in 2010 and 2020. Br J Ophthalmol. 2006;90:262-267. (Pubitemid 43325451)
3. Thomas R, Paul P, Muliyil J. Glaucoma in India. J Glaucoma. 2003;12:81-87. (Pubitemid 36228061)
4. Tielsch JM, Sommer A, Katz Z, Royall RM, Quigley HA, Javitt J. Racial variations in prevalence of primary open angle glaucoma. JAMA. 1991;266:369-374.
5. Klein BE, Klein R, Sponsel WE, et al. Prevalence of glaucoma. The Beaver Dam Eye Study. Ophthalmology. 1999;99:1499-1504.
6. Foster PJ, Johnson GJ. Glaucoma in China: how big is the problem? Br J Ophthalmol. 2001;85:1277-1282. (Pubitemid 33016101)
7. Foster PJ, Oen FT, Machin D, et al. The prevalence of glaucoma in Chinese residents of Singapore: a cross sectional population survey of the Tanjong Pagar district. Arch Ophthalmol. 2000;118:1105-1111. (Pubitemid 30643344)
8. Alvarado JA, Murphy CG. Outflow obstruction in pigmentary and primary open angle glaucoma. Arch Ophthalmol. 1992;110:1769-1778.
9. Ritch R, Schlotzer-Schrehardt U, Kuchle M. Exfoliation syndrome. Surv Ophthalmol. 2001;45:265-315. (Pubitemid 32146432)
10. Schlotzer-Schrehardt U, Koca M, Naumann GOH, Volkholz H. Pseudoexfoliation syndrome: ocular manifestation of a systemic disorder? Arch Ophthalmol. 1992;110:1752-1756.
11. Ritch R. Exfoliation syndrome: the most common identifiable cause of open angle glaucoma. J Glaucoma. 1996;3:176-178.
12. Naumann GOH, Schlotzer-Schrehardt U, Kuchle M. Pseudoexfoliation syndrome for the comprehensive ophthalmologist: intraocular and systemic manifestations. Ophthalmology. 1998;105:951-968. (Pubitemid 28268316)
13. Mitchell P, Wang JJ, Smith W. Association of pseudoexfoliation syndrome with increased vascular risk. Am J Ophthalmol. 1997;124:685-687. (Pubitemid 27469246)
14. Schlotzer-Schrehardt U, Naumann GOH. Ocular and systemic pseudoexfoliation syndrome. Am J Ophthalmol. 2006;141:921-927.
15. Arvind H, Raju P, Paul PG, et al. Pseudoexfoliation in south India. Br J Ophthalmol. 2003;87:1321-1323. (Pubitemid 37452551)
16. Krishnadas R, Nirmalan PK, Ramakrishnan R, et al. Pseudoexfoliation in a rural population of southern India: the Aravind Comprehensive Eye Survey. Am J Ophthalmol. 2003;135-830-837. (Pubitemid 36677401)
17. Thomas R, Nirmalan PK, Krishnaiah S. Pseudoexfoliation in Southern India: The Andhra Pradesh Eye Disease Study. Invest Ophthalmol Vis Sci. 2005;46:1170-1176. (Pubitemid 41685849)
18. Fan BJ, Wang DY, Lam DSC, Pang CP. Gene mapping for primary open angle glaucoma. Clin Biochem. 2006;39:249-258.
19. Wiggs JL. Genetic etiologies of glaucoma. Arch Ophthalmol. 2007;125:30-37. (Pubitemid 46072373)
20. Stone EM, Fingert JH, Alward WL, et al. Identification of a gene that causes primary open angle glaucoma. Science. 1997;275:668-670. (Pubitemid 27061334)
21. Rezaie T, Child A, Hitchings R, et al. Adult-onset primary open angle glaucoma caused by mutations in optineurin. Science. 2002;295:1077-1079. (Pubitemid 34132238)
22. 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. (Pubitemid 40403270)
23. Thorleifsson G, Magnusson KP, Sulem P, et al. Common sequence variants in the LOXL1 gene confer susceptibility to exfoliation glaucoma. Science. 2007;317:1397-1400. (Pubitemid 47417481)
24. Hewitt A, Sharma S, Burdon KP, et al. Ancestral LOXL1 variants are associated with pseudoexfoliation in Caucasian Australians but with markedly lower penetrance than in Nordic people. Hum Mol Genet. 2008;17:710-716.
25. Fingert JH, Alward WLM, Kwon YH, et al. LOXL1 mutations are associated with exfoliation syndrome in patients from Midwestern United States. Am J Ophthalmol. 2007;144:974-975. (Pubitemid 350122369)
26. Damji KF. Progress in understanding pseudoexfoliation syndrome and pseudoexfoliation-associated glaucoma. Can J Ophthalmol. 2007;42:657-658. (Pubitemid 350157549)
27. Libby RT, Gould DB, Anderson MG, John SW. Complex genetics of glaucoma susceptibility. Annu Rev Genomics Hum Genet. 2005;6:15-44. (Pubitemid 41397074)
28. Chakrabarti S, Devi KR, Komatireddy S, et al. Glaucoma-associated CYP1B1 mutations share similar haplotype backgrounds in POAG and PACG phenotypes. Invest Ophthalmol Vis Sci. 2007;48:5439-5444.
29. Sambrook J, Fritsch EF, Maniatis T. Molecular Cloning: a Laboratory Manual. 2nd ed. Cold Spring Harbor, NY: Cold Spring Harbor Press; 1989:17-19.
30. Barrett JC, Fry B, Maller J, Daly MJ. Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics. 2005;21:263-265. (Pubitemid 40202029)
31. Ritch R, Schlotzer-Schrehardt U, Konstas AG. Why is glaucoma associated with exfoliation syndrome? Prog Retin Eye Res. 2003;22:253-275. (Pubitemid 38401056)
32. Kim Y, Boyd CD, Csiszar K. A new gene with sequence and structural similarity to the gene encoding human lysyl oxidase. J Biol Chem. 1995;270:7176-7182.
33. Kuhlenbäumer G, Friedrichs F, Kis B, et al. Association between single nucleotide polymorphisms in the lysyl oxidase-like 1 gene and spontaneous cervical artery dissection. Cerebrovasc Dis. 2007;24:343-348. (Pubitemid 47482039)
34. Akagawa H, Narita A, Yamada H, et al. Systematic screening of lysyl oxidase-like (LOXL) family genes demonstrates that LOXL2 is a susceptibility gene to intracranial aneurysms. Hum Genet. 2007;121:377-387. (Pubitemid 46554674)
35. Goy A, Gilles F, Remache Y, Zelenetz AD. Physical linkage of the lysyl oxidase-like (LOXL1) gene to the PML gene on human chromosome 15q22. Cytogenet Cell Genet. 2000;88:22-24. (Pubitemid 30175588)
36. Kirwan RP, Fenerty CH, Crean J, Wordinger RJ, Clark AF, O'Brien CJ. Influence of cyclical mechanical strain on extracellular matrix gene expression in human lamina cribrosa cells in vitro. Mol Vis. 2005;11:798-810. (Pubitemid 41410191)
37. Netland PA, Ye H, Streeten BW, Hernandez MR. Elastosis of the lamina cribrosa in pseudoexfoliation syndrome with glaucoma. Ophthalmology. 1995;102:878-886.
38. Pena JD, Netland PA, Vidal I, Dorr DA, Rasky A, Hernandez MR. Elastosis of the lamina cribrosa in glaucomatous optic neuropathy. Exp Eye Res. 1998;67:517-524. (Pubitemid 29005148)
39. Marx J. Genetics: high-risk glaucoma gene found in Nordic studies. Science. 2007;317:735. (Pubitemid 47257885)
40. Liu X, Zhao Y, Gao J, et al. Elastic fiber homeostasis requires lysyl oxidase-like 1 protein. Nat Genet. 2004;36:178-182. (Pubitemid 38174378)
41. Schlotzer-Schrehardt U, Naumann GOH. Trabecular meshwork in pseudoexfoliation syndrome with and without open-angle glaucoma. Invest Ophthalmol Vis Sci. 1995;36:1750-1764.
42. Zenkel M, Poschl E, von Der Mark K, et al. Differential gene expression in pseudoexfoliation syndrome. Invest Ophthalmol Vis Sci. 2005;46:3742-3752. (Pubitemid 44264681)
43. Ovodenko B, Rostagno A, Neubert TA, et al. Proteomic analysis of exfoliation deposits. Invest Ophthalmol Vis Sci. 2007;48:1447-1457.