241
Views
7
CrossRef citations to date
0
Altmetric
Original Article

Evaluation of Genetic Polymorphisms in Clusterin and Tumor Necrosis Factor-Alpha Genes in South Indian Individuals with Pseudoexfoliation Syndrome

, , , , &
Pages 1218-1224 | Received 07 Jul 2014, Accepted 08 Dec 2014, Published online: 07 Apr 2015

References

  • Ritch R, Schlotzer-Schrehardt U. Exfoliation syndrome. Surv Ophthalmol 2001;45:265–315
  • Jeng SM, Karger RA, Hodge DO, Burke JP, Johnson DH, Good MS. The risk of glaucoma in pseudoexfoliation syndrome. J Glaucoma 2007;16:117–121
  • Naumann GO, Schlotzer-Schrehardt U, Kuchle M. Pseudoexfoliation syndrome for the comprehensive ophthalmologist. Intraocular and systemic manifestations. Ophthalmology 1998;105:951–968
  • Schlotzer-Schrehardt U, Naumann GO. Ocular and systemic pseudoexfoliation syndrome. Am J Ophthalmol 2006;141:921–937
  • Gottanka J, Flugel-Koch C, Martus P, Johnson DH, Lutjen-Drecoll E. Correlation of pseudoexfoliative material and optic nerve damage in pseudoexfoliation syndrome. Invest Ophthalmol Vis Sci 1997;38:2435–2446
  • Schlotzer-Schrehardt U, Naumann GO. Trabecular meshwork in pseudoexfoliation syndrome with and without open-angle glaucoma. A morphometric, ultrastructural study. Invest Ophthalmol Vis Sci 1995;36:1750–1764
  • Thorleifsson G, Magnusson KP, Sulem P, Walters GB, Gudbjartsson DF, Stefansson H, et al. Common sequence variants in the LOXL1 gene confer susceptibility to exfoliation glaucoma. Science 2007;317:1397–1400
  • Krumbiegel M, Pasutto F, Schlotzer-Schrehardt U, Uebe S, Zenkel M, Mardin CY, et al. Genome-wide association study with DNA pooling identifies variants at CNTNAP2 associated with pseudoexfoliation syndrome. Eur J Hum Genet 2011;19:186–193
  • Ringvold A. Epidemiology of the pseudo-exfoliation syndrome. Acta Ophthalmol Scand 1999;77:371–375
  • Krishnadas R, Nirmalan PK, Ramakrishnan R, Thulasiraj RD, Katz J, Tielsch JM, et al. Pseudoexfoliation in a rural population of southern India: the Aravind Comprehensive Eye Survey. Am J Ophthalmol 2003;135:830–837
  • Arvind H, Raju P, Paul PG, Baskaran M, Ramesh SV, George RJ, et al. Pseudoexfoliation in South India. Br J Ophthalmol 2003;87:1321–1323
  • Thomas R, Nirmalan PK, Krishnaiah S. Pseudoexfoliation in southern India: the Andhra Pradesh Eye Disease Study. Invest Ophthalmol Vis Sci 2005;46:1170–1176
  • Challa P, Schmidt S, Liu Y, Qin X, Vann RR, Gonzalez P, et al. Analysis of LOXL1 polymorphisms in a United States population with pseudoexfoliation glaucoma. Mol Vis 2008;14:146–149
  • Fan BJ, Pasquale L, Grosskreutz CL, Rhee D, Chen T, DeAngelis MM, et al. DNA sequence variants in the LOXL1 gene are associated with pseudoexfoliation glaucoma in a U.S. clinic-based population with broad ethnic diversity. BMC Med Genet 2008;9:5
  • Aragon-Martin JA, Ritch R, Liebmann J, O’Brien C, Blaaow K, Mercieca F, et al. Evaluation of LOXL1 gene polymorphisms in exfoliation syndrome and exfoliation glaucoma. Mol Vis 2008;14:533–541
  • Fingert JH, Alward WL, Kwon YH, Wang K, Streb LM, Sheffield VC, et al. LOXL1 mutations are associated with exfoliation syndrome in patients from the midwestern United States. Am J Ophthalmol 2007;144:974–975
  • Pasutto F, Krumbiegel M, Mardin CY, Paoli D, Lammer R, Weber BH, et al. Association of LOXL1 common sequence variants in German and Italian patients with pseudoexfoliation syndrome and pseudoexfoliation glaucoma. Invest Ophthalmol Vis Sci 2008;49:1459–1463
  • Hewitt AW, Sharma S, Burdon KP, Wang JJ, Baird PN, Dimasi DP, 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
  • Mossbock G, Renner W, Faschinger C, Schmut O, Wedrich A, Weger M. Lysyl oxidase-like protein 1 (LOXL1) gene polymorphisms and exfoliation glaucoma in a Central European population. Mol Vis 2008;14:857–861
  • Malukiewicz G, Lesiewska-Junk H, Linkowska K, Mielnik M, Grzybowski T, Sulima N. Analysis of LOXL1 single nucleotide polymorphisms in Polish population with pseudoexfoliation syndrome. Acta Ophthalmol 2011;89:e64–e66
  • Fuse N, Miyazawa A, Nakazawa T, Mengkegale M, Otomo T, Nishida K. Evaluation of LOXL1 polymorphisms in eyes with exfoliation glaucoma in Japanese. Mol Vis 2008;14:1338–1343
  • Ozaki M, Lee KY, Vithana EN, Yong VH, Thalamuthu A, Mizoguchi T, et al. Association of LOXL1 gene polymorphisms with pseudoexfoliation in the Japanese. Invest Ophthalmol Vis Sci 2008;49:3976–3980
  • Tanito M, Minami M, Akahori M, Kaidzu S, Takai Y, Ohira A, et al. LOXL1 variants in elderly Japanese patients with exfoliation syndrome/glaucoma, primary open-angle glaucoma, normal tension glaucoma, and cataract. Mol Vis 2008;14:1898–1905
  • Chen L, Jia L, Wang N, Tang G, Zhang C, Fan S, et al. Evaluation of LOXL1 polymorphisms in exfoliation syndrome in a Chinese population. Mol Vis 2009;15:2349–2357
  • Sagong M, Gu BY, Cha SC. Association of lysyl oxidase-like 1 gene polymorphisms with exfoliation syndrome in Koreans. Mol Vis 2011;17:2808–2817
  • Dubey SK, Hejtmancik JF, Krishnadas SR, Sharmila R, Haripriya A, Sundaresan P. Lysyl oxidase-like 1 gene in the reversal of promoter risk allele in pseudoexfoliation syndrome. JAMA Ophthalmol 2014;132:949–955
  • Williams SE, Whigham BT, Liu Y, Carmichael TR, Qin X, Schmidt S, et al. Major LOXL1 risk allele is reversed in exfoliation glaucoma in a black South African population. Mol Vis 2010;16:705–712
  • Kim S, Kim Y. Variations in LOXL1 associated with exfoliation glaucoma do not affect amine oxidase activity. Mol Vis 2012;18:265–270
  • Burdon KP, Sharma S, Hewitt AW, McMellon AE, Wang JJ, Mackey DA, et al. Genetic analysis of the clusterin gene in pseudoexfoliation syndrome. Mol Vis 2008;14:1727–1736
  • Krumbiegel M, Pasutto F, Mardin CY, Weisschuh N, Paoli D, Gramer E, et al. Exploring functional candidate genes for genetic association in german patients with pseudoexfoliation syndrome and pseudoexfoliation glaucoma. Invest Ophthalmol Vis Sci 2009;50:2796–2801
  • Razeghinejad MR, Rahat F, Kamali-Sarvestani E. Association of TNFA -308 G/A and TNFRI +36 A/G gene polymorphisms with glaucoma. Ophthalmic Res 2009;42:118–124
  • Khan MI, Micheal S, Rana N, Akhtar F, den Hollander AI, Ahmed A, et al. Association of tumor necrosis factor alpha gene polymorphism G-308A with pseudoexfoliative glaucoma in the Pakistani population. Mol Vis 2009;15:2861–2867
  • Wilson MR, Easterbrook-Smith SB. Clusterin is a secreted mammalian chaperone. Trends Biochem Sci 2000;25:95–98
  • Zenkel M, Kruse FE, Junemann AG, Naumann GO, Schlotzer-Schrehardt U. Clusterin deficiency in eyes with pseudoexfoliation syndrome may be implicated in the aggregation and deposition of pseudoexfoliative material. Invest Ophthalmol Vis Sci 2006;47:1982–1990
  • Ovodenko B, Rostagno A, Neubert TA, Shetty V, Thomas S, Yang A, et al. Proteomic analysis of exfoliation deposits. Invest Ophthalmol Vis Sci 2007;48:1447–1457
  • Zhang S, Zhang D, Jiang Y, Wu L, Shang H, Liu J, et al. CLU rs2279590 polymorphism contributes to Alzheimer’s disease susceptibility in Caucasian and Asian populations. J Neural Transm 2014;122:433–439
  • Wilson AG, Symons JA, McDowell TL, McDevitt HO, Duff GW. Effects of a polymorphism in the human tumor necrosis factor alpha promoter on transcriptional activation. Proc Natl Acad Sci U S A 1997;94:3195–3199
  • Meijer MJ, Mieremet-Ooms MA, van Hogezand RA, Lamers CB, Hommes DW, Verspaget HW. Role of matrix metalloproteinase, tissue inhibitor of metalloproteinase and tumor necrosis factor-alpha single nucleotide gene polymorphisms in inflammatory bowel disease. World J Gastroenterol 2007;13:2960–2966
  • Schlotzer-Schrehardt U, Lommatzsch J, Kuchle M, Konstas AG, Naumann GO. Matrix metalloproteinases and their inhibitors in aqueous humor of patients with pseudoexfoliation syndrome/glaucoma and primary open-angle glaucoma. Invest Ophthalmol Vis Sci 2003;44:1117–1125
  • Maatta M, Tervahartiala T, Harju M, Airaksinen J, Autio-Harmainen H, Sorsa T. Matrix metalloproteinases and their tissue inhibitors in aqueous humor of patients with primary open-angle glaucoma, exfoliation syndrome, and exfoliation glaucoma. J Glaucoma 2005;14:64–69
  • Tekeli O, Turacli ME, Egin Y, Akar N, Elhan AH. Tumor necrosis factor alpha-308 gene polymorphism and pseudoexfoliation glaucoma. Mol Vis 2008;14:1815–1818
  • Mossbock G, Renner W, El-Shabrawi Y, Faschinger C, Schmut O, Wedrich A, et al. TNF-alpha -308 G > A and -238 G > A polymorphisms are not major risk factors in Caucasian patients with exfoliation glaucoma. Mol Vis 2009;15:518–522
  • Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988;16:1215
  • Purcell S, Cherny SS, Sham PC. Genetic Power Calculator: design of linkage and association genetic mapping studies of complex traits. Bioinformatics 2003;19:149–150
  • Harold D, Abraham R, Hollingworth P, Sims R, Gerrish A, Hamshere ML, et al. Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer’s disease. Nat Genet 2009;41:1088–1093
  • Xing YY, Yu JT, Cui WZ, Zhong XL, Wu ZC, Zhang Q, et al. Blood clusterin levels, rs9331888 polymorphism, and the risk of Alzheimer’s disease. J Alzheimers Dis 2012;29:515–519
  • Kaarniranta K, Salminen A, Haapasalo A, Soininen H, Hiltunen M. Age-related macular degeneration (AMD): Alzheimer’s disease in the eye? J Alzheimers Dis 2011;24:615–631
  • Jun G, Moncaster JA, Koutras C, Seshadri S, Buros J, McKee AC, et al. delta-Catenin is genetically and biologically associated with cortical cataract and future Alzheimer-related structural and functional brain changes. PLoS One 2012;7:e43728

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.