Author Affiliations1Institute of Cytology and Genetics of SB RAS, 630090, Novosibirsk, Prospekt Akademik Lavrentyev, 10; Institute of Internal and Preventive Medicine of SB RAMS, 630089, Novosibirsk, Boris Bogatkov str., 175/1
2S. Fyodorov Eye Microsurgery Federal State Institution, Novosibirsk Branch, 630096, Novosibirsk, Kolkhidskaya str., 10
3Institute of Cytology and Genetics of SB RAS, 630090, Novosibirsk, Prospekt Akademik Lavrentyev, 10
4Tyumen State Medical Academy of Minzdrav of Russia, 625023, Tyumen, Odesskaya str., 54
5S. Fyodorov Eye Microsurgery Federal State Institution, Novosibirsk Branch, 630096, Novosibirsk, Kolkhidskaya str., 10
6The Kurgan Regional Hospital for War Veterans, 640014, Kurgan, Perov str., 59
7Tyumen State Medical Academy of Minzdrav of Russia, 625023, Tyumen, Odesskaya str., 54
8Institute of Cytology and Genetics of SB RAS, 630090, Novosibirsk, Prospekt Akademik Lavrentyev, 10; Institute of Internal and Preventive Medicine of SB RAMS, 630089, Novosibirsk, Boris Bogatkov str., 175/1
9Institute of Cytology and Genetics of SB RAS, 630090, Novosibirsk, Prospekt Akademik Lavrentyev, 10
1. Allingham R.R., Liu Y., Rhee D.J. The genetics of primary open-angle glaucoma: a review // Exp. Eye. Res. 2009. 88. 837–844.
2. Carmel I., Tal S., Vig I., Ast G. Comparative analysis detects dependencies among the 5’ splice-site positions // RNA. 2004. 10. (5). 828–840.
3. Colomb E., Nguyen T.D., Bechetoille A. et al. Association of a single nucleotide polymorphism in the TIGR/MYOCILIN gene promoter with the severity of primary open-angle glaucoma // Clin Genet. 2001. 60. 220–225.
4. Fingert J.H., Héon E., Liebmann J.M. et al. Analysis of myocilin mutation in 1703 glaucoma patient from five different populations // Hum. Mol. Genet. 1999. 8. (5). 899–905.
5. Fuse N. Genetic bases for glaucoma // Tohoku J. Exp. Med. 2010. 221. (1). 1–10.
6. http://www.genecards.org
7. Jia L.Y., Tam P.O., Chiang S.W. et al. Multiple gene polymorphisms analysis revealed a different profile of genetic polymorphisms of primary open-angle glaucoma in northern Chinese // Mol. Vis. 2009. (15). 89–98.
8. Kasahara N., Caixeta-Umbelino C., Paolera M.D. et al. Myocilin mt.1 gene promoter single nucleotide polymorphism (–1000C>G) in Brazilian patients with primary open angle glaucoma // Ophthalmic Genet. 2011. 32. (1). 18–23.
9. Kirstein L., Cvekl A., Chauhan B.K., Tamm E.R. Regulating of human myocilin/TIGR gene transcription in trabecular meshwork cells and astrocytes: role of upstream stimulatory factor // Genes Cells. 2000. 5. 661–676.
10. Knaupp C., Flügel-Koch C., Goldwich A. et al. The expression of myocilin during murine eye development // Graefes Arch. Clin. Exp. Ophthalmol. 2004. 242. (4). 339–345.
11. Liu T., Zeng D., Zeng C., He X. Association between MYOC.mt1 promoter polymorphism and risk of primary open-angle glaucoma: a systematic review and meta-analysis // Med. Sci. Monit. 2008. 14. (7). 87–93.
12. Melki R., Belmouden A., Brézin A., Garchon H.J. Myocilin analysis by DHPLC in French POAG patients: increased prevalence of Q268X mutation // Hum. Mutat. 2003. 22. (2). 179.
13. Messiaen L.M., Callens T., Mortier G. et al. Exhaustive mutation analysis of the NF1 gene allows identification of 95 % of mutations and reveals a high frequency of unusual splicing defects // Hum. Mutat. 2000. 15. (6). 541–555.
14. Nguyen T.D., Chen P., Huang W.D. et al. Gene structure and properties of TIGR, an olfactomedin-related glycol-protein cloned from glucocorticoid- induced trabecular meshwork cells // J. Biol. Chem. 1998. 273. (11). 6341–6350.
15. Ozgül R.K., Bozkurt B., Orcan S. et al. Myocilin mt1 promoter polymorphism in Turkish patients with primary open angle glaucoma // Mol. Vis. 2005. (11). 916–921.
16. Pandaranayaka P.J., Prasanthi N., Kannabiran N. et al. Polymorphisms in an intronic region of the myocilin gene associated with primary open-angle glaucoma – a possible role for alternate splicing // Mol. Vis. 2010. 16. 2891–2902.
17. Polansky J.R., Juster R.P., Spaeth G.L. Association of the myocilin mt.1 promoter variant with the worsening of glaucomatous disease over time // Clin. Genet. 2003. 64. 18–27.
18. Quigley H.A., Broman A.T. The number of people with glaucoma worldwide in 2010 and 2020 // Br. J. Ophthalmol. 2006. 90. (3). 262–267.
19. Ray K., Mookherjee S. Molecular complexity of primary open angle glaucoma: current concepts // J. Genet. 2009. 88. (4). 451–467.
20. Rudnicka A.R., Mt-Isa S., Owen C.G. et al. Variations in primary open-angle glaucoma prevalence by age, gender, and race: a Bayesian meta-analysis // Invest. Ophthalmol. Vis. Sci. 2006. 47. (10). 4254–4261.
21. Sambrook J., Fritsch E.F., Maniatis T. Molecular cloning: a laboratory manual. 2nd ed. Cold Spring Harbor; NY: Cold Spring Harbor Laboratory Press, 1989.
22. Sakai H., Shen X., Koga T. et al. Mitochondrial association of myocilin, product of a glaucoma gene, in human trabecular meshwork cells // J. Cell. Physiol. 2007. 213. (3). 775–784.
23. Sommer A., Katz J., Quigley H.A. et al. Clinically detectable nerve fiber atrophy precedes the onset of glaucomatous field loss // Arch. Ophthalmol. 1991. 109. 77–83.
24. Tomarev S., Nakaya N. Olfactomedin domain-containing proteins: possible mechanisms of action and functions in normal development and pathology // Mol. Neurobiol. 2009. 40. (2). 122–138.
25. Wolfs R.C., Klaver C.C., Ramrattan R.S. et al. Genetic risk of primary open-angle glaucoma. Population-based familial aggregation study // Arch Ophthalmol. 1998. 116. (12). 1640–1645.
About Authors (Correspondence):
Ivanoshchuk D.E. – junior researcher of the laboratory of the human molecular genetics, junior researcher of the laboratory of the molecular genetics therapeutic diseases, e-mail: dinara2084@mail.ru
Bychkov I.Yu. – ophthalmologist, e-mail: sci@mntk.nsk.ru
Mikhailova S.V. – candidate of biology sciences, researcher of the laboratory of the human molecular genetics, e-mail: mikhail@bionet.nsc.ru
Konovalova N.A. – doctor of medical sciences, professor, head of ophthalmologist upgrade qualifications and professional retraining chair, e-mail: doctork@bk.ru
Eremina A.V. – ophthalmologist, e-mail: sci@mntk.nsk.ru
Ponomareva M.N. – doctor of medical sciences, deputy director of medical services, e-mail: veteran-krgn@yandex.ru
Konovalova O.S. – candidate of medical sciences, head of the Tymen branch, e-mail: tumen_mntk@mail.ru
Voevoda M.I. – doctor of medical sciences, professor, head of the laboratory of the human molecular genetics, corresponding member of RAMS, director, e-mail: voevoda@ya.ru
Romashchenko A.G. – candidate of biology sciences, head of the interinstitute sector of molecular paleogenetics,
e-mail: romasch@bionet.nsc.ru
