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

Current Eye Research

Volumn 40, Issue 12, 2015, Pages 1218-1224

  Dubey, Sushil K ^a   Hejtmancik, James F ^b   Krishnadas, Subbaiah R ^c   Sharmila, Rajendrababu ^c   Haripriya, Aravind ^c   Sundaresan, Periasamy ^a  

^a ARAVIND MEDICAL RESEARCH FOUNDATION   (India)

^b NATIONAL EYE INSTITUTE   (United States)

^c ARAVIND EYE HOSPITAL   (India)

Author keywords

CLU; Pseudoexfoliation glaucoma; Pseudoexfoliation syndrome; SNP; TNF

Indexed keywords

CLUSTERIN; TUMOR NECROSIS FACTOR ALPHA; CLU PROTEIN, HUMAN;

ADULT; AGED; ARTICLE; CONTROLLED STUDY; GENE FREQUENCY; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC PARAMETERS; GENETIC POLYMORPHISM; GENETIC VARIABILITY; GENOTYPE; GLAUCOMA; HARDY WEINBERG EQUILIBRIUM; HUMAN; INDIA; MAJOR CLINICAL STUDY; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROMOTER REGION; PSEUDOEXFOLIATION; PSEUDOEXFOLIATION GLAUCOMA; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SINGLE NUCLEOTIDE POLYMORPHISM; VERY ELDERLY; CAUCASIAN; EPIDEMIOLOGY; ETHNOLOGY; FEMALE; GENETICS; GENOTYPING TECHNIQUE; MALE; MIDDLE AGED;

AGED; AGED, 80 AND OVER; CLUSTERIN; EUROPEAN CONTINENTAL ANCESTRY GROUP; EXFOLIATION SYNDROME; FEMALE; GENE FREQUENCY; GENOTYPING TECHNIQUES; GLAUCOMA; HUMANS; INDIA; MALE; MIDDLE AGED; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; POLYMORPHISM, SINGLE NUCLEOTIDE; TUMOR NECROSIS FACTOR-ALPHA;

EID: 84959455013     PISSN: 02713683     EISSN: 14602202     Source Type: Journal    
DOI: 10.3109/02713683.2014.997884     Document Type: Article

References (48)

1. Ritch R, Schlotzer-Schrehardt U. Exfoliation syndrome. Surv Ophthalmol 2001; 45: 265-315
2. 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
3. Naumann GO, Schlotzer-Schrehardt U, Kuchle M. Pseudoexfoliation syndrome for the comprehensive ophthalmologist. Intraocular and systemic manifestations. Ophthalmology 1998; 105: 951-968
4. Schlotzer-Schrehardt U, Naumann GO. Ocular and systemic pseudoexfoliation syndrome. Am J Ophthalmol 2006; 141: 921-937
5. 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
6. 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
7. 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
8. 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
9. Ringvold A. Epidemiology of the pseudo-exfoliation syndrome. Acta Ophthalmol Scand 1999; 77: 371-375
10. 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
11. 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
12. Thomas R, Nirmalan PK, Krishnaiah S. Pseudoexfoliation in southern India: the Andhra Pradesh Eye Disease Study. Invest Ophthalmol Vis Sci 2005; 46: 1170-1176
13. 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
14. 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
15. Aragon-Martin JA, Ritch R, Liebmann J, OBrien C, Blaaow K, Mercieca F, et al. Evaluation of LOXL1 gene polymorphisms in exfoliation syndrome and exfoliation glaucoma. Mol Vis 2008; 14: 533-541
16. 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
17. 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
18. 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
19. 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
20. 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
21. 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
22. 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
23. 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
24. 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
25. 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
26. 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
27. 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
28. Kim S, Kim Y. Variations in LOXL1 associated with exfoliation glaucoma do not affect amine oxidase activity. Mol Vis 2012; 18: 265-270
29. 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
30. 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
31. 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
32. 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
33. Wilson MR, Easterbrook-Smith SB. Clusterin is a secreted mammalian chaperone. Trends Biochem Sci 2000; 25: 95-98
34. 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
35. 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
36. Zhang S, Zhang D, Jiang Y, Wu L, Shang H, Liu J, et al. CLU rs2279590 polymorphism contributes to Alzheimers disease susceptibility in Caucasian and Asian populations. J Neural Transm 2014; 122: 433-439
37. 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
38. 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
39. 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
40. 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
41. 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
42. 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
43. Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988; 16: 1215
44. 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
45. 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 Alzheimers disease. Nat Genet 2009; 41: 1088-1093
46. Xing YY, Yu JT, Cui WZ, Zhong XL, Wu ZC, Zhang Q, et al. Blood clusterin levels, rs9331888 polymorphism, and the risk of Alzheimers disease. J Alzheimers Dis 2012; 29: 515-519
47. Kaarniranta K, Salminen A, Haapasalo A, Soininen H, Hiltunen M. Age-related macular degeneration (AMD): Alzheimers disease in the eye? J Alzheimers Dis 2011; 24: 615-631
48. 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