CAV1 GENE POLYMORPHISM IN PATIENTS WITH PRIMARY OPEN-ANGLE GLAUCOMA

DOI: https://doi.org/None

N.A. Logunov, Y.A. Vitkovsky Chita State Medical Academy, Gorkogo str., 39A, Chita, 672007, Russian Federation

Introduction. Glaucoma is associated with a progressive decrease of visual functions, leading to blindness. One of the important factors is the outflow of the ocular fluid. А genetic association study has identified a sequence variant at the chromosome 7q31 (rs4236601) near kaveolin genes in patients with openangle glaucoma. Kaveolins participate in the active vesicular transport, many cellular processes, signal transfer and migration. Aim. To study the polymorphism of the gene of caveolin 1 (CAV 1) both in healthy persons and glaucoma patients residing in theTransbaikalian region. Methods. CAV1 gene polymorphism (G2891A) was determined by polymerase chain reaction. The amplification products were evaluated by using electrophoresis. Results. The estimation of distribution of allelic variants of caveolin-1 gene in 147 patients with primary open-angle glaucoma and 214 healthy persons was performed. The occurrence of G allele (G2891A) in patients with glaucoma was identified more often than in healthy persons (χ2=5,65; p
Keywords: 
primary open-angle glaucoma, caveolin-1, genetic markers

Список литературы: 
  1. Quigley H. A., Broman A.T. The number of people with glaucoma world wide in 2010 and 2020. Br. J. Ophthalmol. 2006; 90: 362–7.
  2. Quigley H.A. Review number of people with glaucoma world wide. Br. J. Ophthalmol. 1996; 80 (5): 389–93.
  3. Logunov N.A., Belousova A.I., Vitkovskiy Yu.A. Rol` proapoptoticheskogo polimorfizma R53 (C72G) v patogeneze pervichnoy otkrytougol`noy glaukomy u rezidentov Zabaykal`skogo kraya. Kubanskiy medicinskiy vestnik. 2011; 3: 97–100.[Logunov N.A., Belousova A.I., Vitkovsky Yu.A. A role of proapoptotic polymorphism r53 (s72g) in the pathogenesis of primary open angle glaucoma in the residents of zabaikalye area. Kubanskii nauchnyi meditsinskii vestnik. 2011; 3: 97–100 (in Russian)]
  4. Logunov N.A., Belousova A.I., Vitkovskiy Yu.A., Strambovskaya N.N. Proapoptoticheskiy polimorfizm TNF (G308A) kak faktor riska razvitiya pervichnoy otkrytougol`noy glaukomy u rezidentov Zabaykal`skogo kraya. Dal`nevostochnyy medicinskiy zhurnal. 2011; 1: 70–3.[Logunov N.A., Belousova A.I., Vitkovsky Yu.A., Strambovskaya N.N. The proapoptotic polymorphism TNFα (G308A) as the risk factor for the development of primary open angle glaucoma in the Zabaikalye area. Dalnevostochnyj medicinskij zhurnal. 2011; 1: 70–3 (in Russian)]
  5. Kwon Y.H., Fingert J.H., Kuehn M.H., Alward W.L. Primary open-angle glaucoma. N. Engl. J. Med. 2009; 360: 1113–24.
  6. Thorleifsson G., Walters G.B., Hewitt A.W. Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma. Nat. Genet. 2010; 42: 906–9.
  7. Kuehn M.H., Wang K., Roos B. Chromosome 7q31 POAG locus: ocular expression of caveolins and lack of association with POAG in a US cohort. Mol. Vis. 2011; 8: 430–5.
  8. Manik G., Picciani R., Lee R.K, Bhattacharya S.K. Aqueous Humor Dynamics: A Review. Open Ophthalmology J. 2010; 4: 52–9.
  9. Grierson I., Lee W.R. Pressure effects on flow channel in the lining endothelium of Schlemm’s canal. A quantitative study by transmission electronmicroscopy. Acta Ophthalmol. 1978; 6 (56): 935–52.
  10. Ghitescu L., Fixman A., Simonescu M., Simionescu N. Specific binding sites for albumin restricted to plasmalemmal vesicles of continuous capillary endothelium receptor-mediated transcitosis. J. Cell. Biol. 1986; 102: 1304–11.
  11. Cohen A.W., Hnasco R., Shubert W., Lisanti M.P. Role of Caveolae and Caveolins in Health and Disease. Physiol. Rev. 2004; 84: 1341–79.
  12. Rasani B., Woodman S.E., Lisanti M.P. Caveolae: from cell biology to animal physiology. Pharmacol. rev. 2002; 54: 431–67.
  13. Pedrigi R.M., Simon D., Reed A., Stamer W.D., Overby D.R. A model of giant vacuole dynamics in human Schlemm’s canal endothelial cells. Exp. Eye. Res. 2011; 92 (1): 57–66.
  14. Tamm E.R. Functional morphology of the outflow pathways of aqueous humor and their changes in open-angle glaucoma. Ophthalmology. 2013; 110 (11): 1026–35.
  15. Guasch R.M., Scambler P., Jones G.E, Ridley A.J. Rho-E regulates actin cytoskeleton organization and cell migration. A. J. Mol. Cell. Biol. 1998; 8 (18): 4761–71.
  16. Minin A.A., Kulik A.V. Vnutrikletochnyy transport. Principy regulyacii. Uspehi biologicheskoy himii. 2004; 44: 225–62.[Minin A.A., Kulik A.V. Intracellular transport. principles of regulation. Uspekhi biologicheskoj khimii. 2004; 44: 225–62 (in Russian)]
  17. Hansen C.G., Nichols B.J. Review exploring the caves: cavins, caveolins and caveolae. Trends. Cell. Biol. 2010; 4 (20): 177–80.
  18. Lajoie P., Nabi I.R. Review lipid rafts, caveolae, and their endocytosis. Int. Rev. Cell. Mol. Biol. 2010; 282: 135–63.
  19. Glenney J.R. The sequence of human caveolin reveals identity with VIP21, a component of transport vesicles. Jr. FEBS Lett. 1992; 341 (1): 45–8.
  20. Surgucheva I., Surguchov A. Expression of caveolin in trabecular meshwork cells and its possible implication in pathogenesis of primary open-angle glaucoma. Mol. Vis. 2011; 17: 2878–88.