The site of the Media Sphera Publishers contains materials intended solely for healthcare professionals.
By closing this message, you confirm that you are a certified medical professional or a student of a medical educational institution.

Tikunova E.V.

FGAOU VPO "Belgorodskiĭ gosudarstvennyĭ natsional'nyĭ issledovatel'skiĭ universitet"

Churnosov M.I.

Kafedra mediko-biologicheskikh distsiplin Belgorodskogo gosudarstvennogo natsional'nogo issledovatel'skogo universiteta

Genetic studies of primary open-angle glaucoma

Authors:

Tikunova E.V., Churnosov M.I.

More about the authors

Journal: Russian Annals of Ophthalmology. 2014;130(5): 96‑99

Read: 1076 times


To cite this article:

Tikunova EV, Churnosov MI. Genetic studies of primary open-angle glaucoma. Russian Annals of Ophthalmology. 2014;130(5):96‑99. (In Russ.)

Recommended articles:
Neuroprotective therapy of glaucoma. Russian Annals of Ophthalmology. 2025;(1):83-90

References:

  1. Nesterov A.P. Pathogenesis and problems of pathogenetic glaucoma treatment. Klinicheskaya oftal'mologiya. 2003; 2: 47-48. (In Russ.)
  2. Vegini F., Figueiroa Filho N., Lenci R.F., Garcia Neto D., Susanna Junior R. Prevalence of open angle glaucoma in accompanying first degree relatives of patients with glaucoma. Clinics. 2008; 63 (3): 329-332.
  3. Green C.M., Kearas L.S., Wu J., Barbour J.M., Wilkinson R.M., Ring M., Craig J.E., Wong T.L., Hewitt A., Mackey D.A. How significant is a family history of glaucoma? Experience from the Glaucoma Inheritance Study in Tasmania. Clin. Exper. Ophthalmol. 2007; 35 (9): 793-799.
  4. Nguyen R.L., Raja S.C., Traboulsi E.I. Screening relatives of patients with familial chronic open angle glaucoma. Ophthalmology. 2000; 107 (7): 1294-1297.
  5. Eroshevskii T.I., Krol' D.S., Lukova N.B. Primary glaucoma and heredity. Vestnik oftal'mologii. 1967; 3: 7-11. (In Russ.)
  6. Armaly M.F. The genetic determination of ocular pressure in the normal eye. Arch. Ophthalmol. 1967; 78 (2): 187-192.
  7. Sheffield V.C., Stone E.M., Alward W.L.M., Drack A.V., Johnson A.T., Streb L.M. Genetic linkage of familial open angle glaucoma to chromosome lq21-31. Nature Genet. 1993; 4: 47-50.
  8. Morissette J., Co'te' G., Anctil G.L., Plante M., Amyot M., Heon E. A common gene for juvenile and adult-onset primary open-angle glaucomas confined on chromosome lq. Am. J. Hum. Genet. 1995; 56: 1431-1442.
  9. Adam M.F., Belmouden A., Binisti P., Brezin A.P., Valtot F., Bechetoille A., Dascote J.C., Copin B., Gomez L., Chaventre A. Recurrent mutations in a single exon encoding the evolutionarily conserved olfactomedin-homology domain of TIGR in familial open-angle glaucoma. Hum. Mol. Genet. 1997; 6 (12): 2091-2097.
  10. Rozsa F.W., Shimizu S., Lichter P.R., Johnson A.T., Othman M.I., Scott K., Downs C.A., Nquyen T.D., Polansky J., Richards J.E. GLC1A mutations point to regions of potential functional importance on the TIGR/MYOC protein. Mol. Vis. 1998; 4: 20.
  11. Stone E.M., Fingert J.H., Alward W.L.M., Nquyen T.D., Polansky J.R., Sunden S.L, Nishimura D., Clark A.F., Nystuen A., Nichols B.E. Identification of a gene that causes primary open-angle glaucoma. Science. 1997; 275: 668-670.
  12. Kubota R., Noda S., Wang Y., Minoshima S., Asakawa S., Kudoh J., Mashima Y., Oquchi Y., Shimizu N. A novel myosin-like protein (Myocilin) expressed in the connecting cilium of the photoreceptor: molecular cloning, tissue expression, and chromosomal mapping. Genomics. 1997; 41: 360-369.
  13. Fingert J.H., Héon E., Liebmann J.M., Yamamoto T., Craig J.E., Rait J., Kawase K., Hoh S.T., Buys Y.M., Dickinson J., Hockey R.R., Williams-Lyn D., Trope G., Kitazawa Y., Ritch R., Mackey D.A., Alward W.L., Sheffield V.C., Stone E.M. Analysis of myocilin mutations in 1703 glaucoma patients from five different populations. Hum. Mol. Genet. 1999; 8: 899-905.
  14. Gong G., Kosoko-Lasaki O., Haynatzki G.R., Wilson M.R. Genetic dissection of myocilin glaucoma. Hum. Mol. Genet. 2004; 13: 91-102.
  15. Sud A., Del Bono E.A., Haines J.L., Wiggs J.L. Fine mapping of the GLC1K juvenile primary open-angle glaucoma locus and exclusion of candidate genes. Mol. Vis. 2008; 14: 1319-1326.
  16. Wiggs J.L. Genetic etiologies of glaucoma. Arch. Ophthalmol. 2007; 125: 30-37.
  17. Angius A., Spinelli P., Ghilotti G., Casu G., Sole G., Loi A., Totaro A., Zelante L., Gasparini P., Orzalesi N., Pirastu M., Bonomi L. Myocilin Gln368STOP mutation and advanced age as risk factors for late-onset primary open-angle glaucoma. Arch. Ophthalmol. 2000; 118: 674-679.
  18. Faucher M., Anctil J.L., Rodrigue M.A., Duchesne A., Bergeron D., Blondeau P., Cote G., Dubois S., Bergeron J., Arseneault R., Morissette J., Raymond V. Founder TIGR/myocilin mutations for glaucoma in the Quebec population. Hum. Mol. Genet. 2002; 11: 2077-2090.
  19. Mataftsi A., Achache F., Heon E., Mermoud A., Cousin P., Metthez G., Schorderet D.F., Munier F.L. MYOC mutation frequency in primary open-angle glaucoma patients from Western Switzerland. Ophthalmic. Genet. 2001; 22: 225-231.
  20. Challa P. Glaucoma genetics. Int. Ophthalmol. Clin. 2008; 48 (4): 73-94.
  21. Hogewind B.F.T., Gaplovska-Kysela K., Theelen T., Cremers F.P.M., Yam G.H.E., Hoyng C.B., Mukhopadhyay A. Identification and functional characterization of a novel MYOC mutation in two primary open angle glaucoma families from The Netherlands. Mol. Vis. 2007; 13: 1793-1801.
  22. Karali A., Russell P., Stefani F.H., Tamm E.R. Localization of myocilin/trabecular meshwork-inducible glucocorticoid response protein in the human eye. Invest. Ophthalmol. Vis. Sci. 2000; 41: 729-740.
  23. O'Brien E.T., Ren X.O., Wang Y.H. Localization of myocilin to the Golgi apparatus in Schlemm's canal cells. Invest. Ophthalmol. Vis. Sci. 2000; 41: 3842-3849.
  24. Swiderski R.E., Ross J.L., Fingert J.H., Clark A.F., Alward W.L., Stone E.M., Sheffield V.C. Localization of MYOC transcripts in human eye and optic nerve by in situ hybridization. Invest. Ophthalmol. Vis. Sci. 2000; 41: 3420-3428.
  25. Wentz-Hunter K., Shen X., Okazaki K., Tanihara H., Yue B.Y. Overexpression of myocilin in cultured human trabecular meshwork cells. Exp. Cell Res. 2004; 297: 39-48.
  26. O'Brien E.T., Kinch M., Harding T.W., Epstein D.L. A mechanism for trabecular meshwork cell retractions Ethacrynic acid initiates the dephosphorylation of focal adhesion proteins. Exp. Eye Res. 1997; 665: 471-483.
  27. Peters D.M., Herbert K., Biddick B., Peterson J.A. Myocilin binding to Hep II domain of fibronectin inhibits cell spreading and incorporation of paxillin into focal adhesions. Exp. Cell Res. 2005; 303: 218-228.
  28. Wilkinson C.H., van der Straaten D., Craig J.E., Coote M.A., McCartney P.J., Stankovich J., Stone E.M., Mackey D.A. Tonography demonstrates reduced facility of outflow of aqueous humor in myocilin mutation carriers. J. Glaucoma. 2003; 12: 237-242.
  29. Caballero M., Rowlette L.L.S., Borras T. Altered secretion of a TIGR/MYOC mutant lacking the olfactomedin domain. Biochim. Biophys. Acta. 2000; 3: 447-460.
  30. Caballero M., Borras T. Inefficient processing of an olfactomedin-deficient myocilin mutant: potential physiological relevance to glaucoma. Biochem. Biophys. Res. Commun. 2001; 282: 662-670.
  31. Liu Y., Vollrath D. Reversal of mutant myocilin non-secretion and cell killing: implications for glaucoma. Hum. Mol. Genet. 2004; 13: 1193-1204.
  32. Sohn S., Hur W., Joe M.K., Kim J.H., Lee Z.W., Ha K.S., Kee C. Expression of wild-type and truncated myocilins in trabecular meshwork cells: their subcellular localizations and cytotoxicities. Invest. Ophthalmol. Vis. Sci. 2002; 43: 3680-3685.
  33. Joe M.K., Sohn S., Hur W., Moon Y., Choi Y.R., Kee C. Accumulation of mutant myocilins in ER leads to ER stress and potencial cytotoxicity in human trabecular meshwork cells. Biochem. Biophys. Res. Commun. 2003; 312 (3): 592-600.
  34. Nakagawa T., Zhu H., Morishima N., Li E., Xu J., Yankner B.A., Yuan J. Caspase-12 mediates endoplasmic-reticulum-specific apoptosis and cytotoxicity by amyloid-beta. Nature. 2000; 403: 98-103.
  35. Sarfarazi M., Child A., Stoilova D., Brice G., Desai T., Trifan O.C., Poinoosawmy D., Crick R.P. Localization of the fourth locus (GLC1E) for adult-onset primary open-angle glaucoma to the 10pl5-pl4 region. Am. J. Hum. Genet. 1998; 62: 641-652.
  36. Rezaie T., Child A., Hitchings R., Brice G., Miller L., Coca-Prados M., Heon E., Krupin T., Ritch R., Kreutzer D., Crick R.P., Sarfarazi M. Adult-onset primary open-angle glaucoma caused by mutations in optineurin. Science. 2002; 295: 1077-1079.
  37. Yung-Chang Y., Jiann-Jou Y., Ming-Chih C., Shuan-Yow L. Absence of optineurin (OPTN) gene mutations in Taiwanese patients with juvenile-onset open-angle glaucoma. Mol. Vis. 2008; 14: 487-494.
  38. Hattula K., Peranen J. FIP-2, a coiled-coil protein, links Huntingtin to Rab8 and modulates cellular morphogenesis. Curr. Biol. 2000; 10: 1603-1606.
  39. Li Y., Kang J., Horwitz M.S. Interaction of an adenovirus E3 14.7-kilodalton protein with a novel tumor necrosis factor alpha-inducible cellular protein containing leucine zipper domains. Mol. Cell Biol. 1998; 18: 1601-1610.
  40. Alward W.L., Kwon Y.H., Kawase K., Craig J.E., Hayreh S.S., Johnson A.T., Khanna C.L., Yamamoto T., Mackey D.A., Roos B.R., Affatigato L.M., Sheffield V.C., Stone E.M. Evaluation of optineurin sequence variations in 1048 patients with open-angle glaucoma. Am. J. Ophthalmol. 2003; 136: 904-910.
  41. Aung T., Ebenezer N.D., Brice G., Child A.H., Prescott Q., Lehmann O.J., Hitchings R.A., Bhattacharya S.S. Prevalence of optineurin sequence variants in adult primary open angle glaucoma: implications for diagnostic testing. J. Med. Genet. 2003; 40.
  42. Melki R., Belmouden A., Akhayat O., Brézin A., Garchon H.J. The M98K variant of the OPTINEURIN (OPTN) gene modifies initial intraocular pressure in patients with primary open angle glaucoma. J. Med. Genet. 2003; 40: 842-844.
  43. Monemi S., Spaeth G., DaSilva A., Popinchalk S., Ilitchev E., Liebmann J., Ritch R., Heon E., Crick R.P., Child A., Sarfarazi M. Identification of a novel adult-onset primary open angle glaucoma (POAG) gene on 5q22.1. Hum. Mol. Genet. 2005; 14: 725-733.
  44. Weisschuh N., Wolf C., Wissinger B., Gramer E. Variations in the WDR36 gene in German patients with normal tension glaucoma. Mol. Vis. 2007; 13: 724-729.
  45. Kang J.H., Wiggs J.L., Rosner B.A., Hankinson S.E., Abdrabou W., Fan B.J., Haines J., Pasquale L.R. Endothelial nitric oxide synthase gene variants and primary open-angle glaucoma: interactions with sex and postmenopausal hormone use. Invest. Ophthalmol. Vis. Sci. 2010; 51 (2): 971-979.
  46. Kumar A., Basavaraj M.G., Gupta S.K., Qamar I., Ali A.M., Bajaj V., Ramesh T.K., Prakash D.R., Shetty J.S., Dorairaj S.K. Role of CYP1B1, MYOC, OPTN and OPTC genes in adult-onset primary open-angle glaucoma: predominance of CYP1B1 mutations in Indian patients. Mol. Vis. 2007; 13: 667-676.
  47. Mookherjee S., Acharya M., Banerjee D., Bhattacharjee A., Ray K. Molecular basis for involvement of CYP1B1 in MYOC upregulation and its potential implication in glaucoma pathogenesis. PLoS One. 2012; 7 (9): e45077.
  48. Stoilov I., Akarsu A., Sarfarazi M. Identification of three different truncating mutations in cytochrome P4501B1 (CYP1B1) as the principal cause of primary congenital glaucoma (buphthalmos) in families linked to the GLC3A locus on chromosome 2p21. Hum. Mol. Genet. 1997; 6: 641-647.
  49. Stoilov I., Jansson I., Sarfarazi M., Schenkman J.B. Roles of cytochrome p450 in development. Drug. Metabol. Drug. Interact. 2001; 18: 33-35.
  50. Vasiliou V., Gonzalez F.J. Role of CYP1B1 in glaucoma. Annu. Rev. Pharmacol. Toxicol. 2008; 48: 333-358.
  51. Vincent A.L., Billingsley G., Buys Y., Alex V., Levin A.V., Priston M., Trope G., Williams-Lyn D., Heon E. Digenic inheritance of early-onset glaucoma: CYP1B1, a potential modifier gene. Am. J. Hum. Genet. 2002; 70: 448-460.
  52. Mabuchi F., Tang S.A., Kashiwagi K., Yamagata Z., Iijima H., Tsukahara S. The OPA1 gene polymorphism is associated with normal tension and high tension glaucoma. Am. J. Ophthal. 2007; 143: 125-130.
  53. Lin H.J., Chen W.C., Tsai F.J., Tsai S.W. Distribution of p53 codon 72 polymorphism in primary open angle glaucoma. Br. J. Ophthalmol. 2002; 86: 767-770.
  54. Ressiniotis T., Griffit P.G. Primary open angle glaucoma is associated with a specific p53 gene haplotype. Ophthalmology. 2004; 3: 134-138.
  55. Lin H.J., Tsai F.J., Chen W.C., Shi Y.R., Hsu Y., Tsai S.W. Association of tumour necrosis factor alpha -308 gene polymorphism with primary open-angle glaucoma in Chinese. Eye (Lond). 2003; 17: 31-34.
  56. Mossbock G., Weger M., Moray M., Renner W., Haller-Schober E.M., Mattes D., Schmut O., Wegscheider B., EI-Shabrawi Y. TNFa promoter polymorphisms and primary open-angle glaucoma. Eye. 2005; 20: 1040-1043.

Email Confirmation

An email was sent to test@gmail.com with a confirmation link. Follow the link from the letter to complete the registration on the site.

Email Confirmation

We use cооkies to improve the performance of the site. By staying on our site, you agree to the terms of use of cооkies. To view our Privacy and Cookie Policy, please. click here.