Genes of the unfolded protein response pathway harbor risk alleles for primary open angle glaucoma

PLoS ONE

Volumn 6, Issue 5, 2011, Pages

  Carbone, Mary Anna ^a   Chen, Yuhong ^b,c   Hughes, Guy A ^b   Weinreb, Robert N ^b   Zabriskie, Norman A ^d   Zhang, Kang ^b,e   Anholt, Robert R H ^a  

^a NORTH CAROLINA STATE UNIVERSITY   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c FUDAN UNIVERSITY   (China)

^d UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^e SICHUAN UNIVERSITY   (China)

Author keywords

[No Author keywords available]

Indexed keywords

AGED; ARTICLE; BIRC6 GENE; CONTROLLED STUDY; DROSOPHILA; FEMALE; GENE; GENETIC MARKER; GENETIC RISK; HUMAN; MAJOR CLINICAL STUDY; MALE; NONHUMAN; OPEN ANGLE GLAUCOMA; ORTHOLOGY; PDIA5 GENE; SINGLE NUCLEOTIDE POLYMORPHISM; UNFOLDED PROTEIN RESPONSE; ALLELE; GENE LINKAGE DISEQUILIBRIUM; GENETICS; GENOTYPE; HAPLOTYPE; PHYSIOLOGY; SIGNAL TRANSDUCTION;

BIRC6 PROTEIN, HUMAN; INHIBITOR OF APOPTOSIS PROTEIN; PDIA5 PROTEIN, HUMAN; PROTEIN DISULFIDE ISOMERASE;

AGED; ALLELES; FEMALE; GENOTYPE; GLAUCOMA, OPEN-ANGLE; HAPLOTYPES; HUMANS; INHIBITOR OF APOPTOSIS PROTEINS; LINKAGE DISEQUILIBRIUM; MALE; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEIN DISULFIDE-ISOMERASES; SIGNAL TRANSDUCTION; UNFOLDED PROTEIN RESPONSE;

EID: 79957802228     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0020649     Document Type: Article

References (34)

1. Julvez LP, Del Castillo Sanchez JB, Feijoo JG, Rubio-Terres C, (2010) Methodologic quality of studies on prognostic factors for primary open-angle glaucoma progression measured by visual field deterioration. J Glaucoma 19: 587-591.
2. Quigley HA, Broman AT, (2006) The number of people with glaucoma worldwide in 2010 and 2020. Br J Ophthalmol 90: 262-267.
3. Sharts-Hopko NC, Glynn-Milley C, (2009) Primary open-angle glaucoma. Am J Nurs 109: 40-47.
4. Mozaffarieh M, Grieshaber MC, Flammer J, (2008) Oxygen and blood flow: Players in the pathogenesis of glaucoma. Mol Vis 14: 224-233.
5. Kumar A, Basavaraj MG, Gupta SK, Qamar I, Ali AM, et al. (2007) Role of CYP1B1, MYOC, OPTN, and OPTC genes in adult-onset primary open-angle glaucoma: Predominance of CYP1B1 mutations in Indian patients. Mol Vis 13: 667-676.
6. Allingham RR, Liu Y, Rhee DJ, (2009) The genetics of primary open-angle glaucoma: A review. Exp Eye Res 88: 837-844.
7. Fan BJ, Wang DY, Lam DS, Pang CP, (2006) Gene mapping for primary open angle glaucoma. Clin Biochem 39: 249-258.
8. Nakano M, Ikeda Y, Taniguchi T, Yagi T, Fuwa M, et al. (2009) Three susceptible loci associated with primary open-angle glaucoma identified by genome-wide association study in a Japanese population. Proc Natl Acad Sci U S A 106: 12838-12842.
9. Thorleifsson G, Walters GB, Hewitt AW, Masson G, Helgason A, et al. (2010) Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma. Nat Genet 42: 906-909.
10. Borras T, Morozova TV, Heinsohn SL, Lyman RF, Mackay TF, et al. (2003) Transcription profiling in Drosophila eyes that overexpress the human glaucoma-associated trabecular meshwork-inducible glucocorticoid response protein/myocilin (TIGR/MYOC). Genetics 163: 637-645.
11. Carbone MA, Ayroles JF, Yamamoto A, Morozova TV, West SA, et al. (2009) Overexpression of myocilin in the Drosophila eye activates the unfolded protein response: Implications for glaucoma. PLoS One 4: e4216.
12. Borst A, (2009) Drosophila's view on insect vision. Curr Biol 19: R36-47.
13. Zhang K, (2010) Integration of ER stress, oxidative stress and the inflammatory response in health and disease. Int J Clin Exp Med 3: 33-40.
14. Joe MK, Sohn S, Hur W, Moon Y, Choi YR, et al. (2003) Accumulation of mutant myocilins in ER leads to ER stress and potential cytotoxicity in human trabecular meshwork cells. Biochem Biophys Res Commun 312: 592-600.
15. Liu Y, Vollrath D, (2004) Reversal of mutant myocilin non-secretion and cell killing: Implications for glaucoma. Hum Mol Genet 13: 1193-1204.
16. Yam GH, Gaplovska-Kysela K, Zuber C, Roth J, (2007) Aggregated myocilin induces russell bodies and causes apoptosis: Implications for the pathogenesis of myocilin-caused primary open-angle glaucoma. Am J Pathol 170: 100-109.
17. Stone EM, Fingert JH, Alward WL, Nguyen TD, Polansky JR, et al. (1997) Identification of a gene that causes primary open angle glaucoma. Science 275: 668-670.
18. Rezaie T, Child A, Hitchings R, Brice G, Miller L, et al. (2002) Adult-onset primary open-angle glaucoma caused by mutations in optineurin. Science 295: 1077-1079.
19. Johnson DH, (2000) Myocilin and glaucoma: A TIGR by the tail? Arch Ophthalmol 118: 974-978.
20. Chalasani ML, Swarup G, Balasubramanian D, (2009) Optineurin and its mutants: Molecules associated with some forms of glaucoma. Ophthalmic Res 42: 176-184.
21. Maattanen P, Gehring K, Bergeron JJ, Thomas DY, (2010) Protein quality control in the ER: The recognition of misfolded proteins. Semin Cell Dev Biol 21: 500-511.
22. Liu CH, Goldberg AL, Qiu XB, (2007) New insights into the role of the ubiquitin-proteasome pathway in the regulation of apoptosis. Chang Gung Med J 30: 469-479.
23. Ni M, Lee AS, (2007) ER chaperones in mammalian development and human diseases. FEBS Lett 581: 3641-3651.
24. Gobeil S, Rodrigue MA, Moisan S, Nguyen TD, Polansky JR, et al. (2004) Intracellular sequestration of hetero-oligomers formed by wild-type and glaucoma-causing myocilin mutants. Invest Ophthalmol Vis Sci 45: 3560-3567.
25. Kim BS, Savinova OV, Reedy MV, Martin J, Lun Y, et al. (2001) Targeted disruption of the myocilin gene (MYOC) suggests that human glaucoma-causing mutations are gain of function. Mol Cell Biol 21: 7707-7713.
26. Salminen A, Kauppinen A, Suuronen T, Kaarniranta K, Ojala J, (2009) ER stress in Alzheimer's disease: A novel neuronal trigger for inflammation and Alzheimer's pathology. J Neuroinflammation 6: 41.
27. Hosoi T, Ozawa K, (2010) Endoplasmic reticulum stress in disease: Mechanisms and therapeutic opportunities. Clin Sci (Lond) 118: 19-29.
28. Wang L, Zhuo Y, Liu B, Huang S, Hou F, et al. (2007) Pro370Leu mutant myocilin disturbs the endoplasm reticulum stress response and mitochondrial membrane potential in human trabecular meshwork cells. Mol Vis 13: 618-625.
29. de Bakker PI, Yelensky R, Pe'er I, Gabriel SB, Daly MJ, et al. (2005) Efficiency and power in genetic association studies. Nat Genet 37: 1217-1223.
30. Fan JB, Gunderson KL, Bibikova M, Yeakley JM, Chen J, et al. (2006) Illumina universal bead arrays. Methods Enzymol 410: 57-73.
31. Fan JB, Oliphant A, Shen R, Kermani BG, Garcia F, et al. (2003) Highly parallel SNP genotyping. Cold Spring Harb Symp Quant Biol 68: 69-78.
32. Lin CH, Yeakley JM, McDaniel TK, Shen R, (2009) Medium- to high-throughput snp genotyping using VeraCode microbeads. Methods Mol Biol 496: 129-142.
33. Li Z, Zhang Z, He Z, Tang W, Li T, et al. (2009) A partition-ligation-combination-subdivision EM algorithm for haplotype inference with multiallelic markers: Update of the SHEsis Cell Res 19: 519-523 (http://analysis.Bio-x.Cn).
34. Shi YY, He L, (2005) SHEsis, a powerful software platform for analyses of linkage disequilibrium, haplotype construction, and genetic association at polymorphism loci. Cell Res 15: 97-98.