Mutational screening of VSX1, SPARC, SOD1, LOX, and TIMP3 in keratoconus

Molecular Vision

Volumn 17, Issue , 2011, Pages 2482-2494

  de Bonis, Patrizia ^a   Laborante, Antonio ^a   Pizzicoli, Costantina ^b   Stallone, Raffaella ^a   Barbano, Raffaela ^a   Longo, Costanza ^a   Mazzilli, Emilio ^a   Zelante, Leopoldo ^a   Bisceglia, Luigi ^a  

^a CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

^b UNIVERSITY OF FOGGIA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

HOMEODOMAIN PROTEIN; OSTEONECTIN; PROTEIN LYSINE 6 OXIDASE; SUPEROXIDE DISMUTASE; TISSUE INHIBITOR OF METALLOPROTEINASE 3; UNCLASSIFIED DRUG; VISUAL SYSTEM HOMEOBOX 1;

ARTICLE; CLINICAL EXAMINATION; COHORT ANALYSIS; CONTROLLED STUDY; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC IDENTIFICATION; GENETIC SCREENING; GENETIC VARIABILITY; HUMAN; ITALY; KERATOCONUS; KERATOMETRY; LOX GENE; MAJOR CLINICAL STUDY; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; PATHOGENICITY; PRIORITY JOURNAL; SOD1 GENE; SPARC GENE; TIMP3 GENE; VSX1 GENE;

ADOLESCENT; ADULT; BASE SEQUENCE; CHILD; COHORT STUDIES; CORNEA; CORNEAL TOPOGRAPHY; DNA MUTATIONAL ANALYSIS; EYE PROTEINS; GENETIC TESTING; HOMEODOMAIN PROTEINS; HUMANS; ITALY; KERATOCONUS; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION; OSTEONECTIN; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEIN-LYSINE 6-OXIDASE; SUPEROXIDE DISMUTASE; TISSUE INHIBITOR OF METALLOPROTEINASE-3;

EID: 83055170864     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

References (68)

1. Dobbins KR, Price EWJ, Wilson WE. Trends in the indication for penetrating keratoplasty in the Midwestern United States. Cornea 2000; 19:813-6. [PMID: 11095055]
2. Legeais JM, Parc C, D'hermies F, Pouliquen Y, Renard G. Nineteen years of penetrating keratoplasty in the Hotel-Dieu Hospital in Paris. Cornea 2001; 20:603-6. [PMID: 11473160]
3. Kennedy RH, Bourne WM, Dyer JA. A 48-year clinical and epidemiologic study of keratoconus. Am J Ophthalmol 1986; 101:267-73. [PMID: 3513592]
4. Rabinowitz YS. Keratoconus. Surv Ophthalmol 1998; 42:297-319. [PMID: 9493273]
5. Cremona FA, Ghosheh FR, Rapano CJ, Eagle RC, Hammersmith KM, Laibson PR, Ayres BD, Cohen EJ. Keratoconus associated with other corneal dystrophies. Cornea 2009; 28:127-35. [PMID: 19158551]
6. Wang Y, Rabinowitz YS, Rotter JI, Yang H. Genetic epidemiological study of keratoconus: evidence for major gene determination. Am J Med Genet 2000; 93:403-9. [PMID: 10951465]
7. Edwards M, McGhee CN, Dean S. The genetics of keratoconus. Clin Experiment Ophthalmol 2001; 29:345-51. [PMID: 11778802]
8. Levy D, Hutchings H, Rouland JF, Guell J, Burillon C, Arné JL, Colin J, Laroche L, Montard M, Delbosc B, Aptel I, Ginisty H, Grandjean H, Malecaze F. Videokeratographic anomalies in familial keratoconus. Ophthalmology 2004; 111:867-74. [PMID: 15121361]
9. Bisceglia L, De Bonis P, Pizzicoli C, Fischetti L, Laborante A, Di Perna M, Giuliani F, Delle Noci N, Buzzonetti L, Zelante L. Linkage analysis in keratoconus: replication of locus 5q21.2 and identification of other suggestive Loci. Invest Ophthalmol Vis Sci 2009; 50:1081-6. [PMID: 18978346]
10. Hallermann W, Wilson E. Genetische Betrachtungen ueber der Keratokonus. Klin Monatsbl Augenheilkd 1977; 170:906-8. [PMID: 894997]
11. Wilson SE, Verity SM, Conger DL. Accuracy and precision of the corneal analysis system and topographic modeling system. Cornea 1992; 11:28-35. [PMID: 1559344]
12. Bawazeer AM, Hodge WG, Lorimer B. Atopy and keratoconus: a multivariate analysis. Br J Ophthalmol 2000; 84:834-6. [PMID: 10906086]
13. Sherwin T, Brookes NH. Morphological changes in keratoconus: pathology or pathogenesis. Clin Experiment Ophthalmol 2004; 32:211-7. [PMID: 15068441]
14. Romero-Jiménez M, Santodomingo-Rubido J, Wolffsohn JS. Keratoconus: a review. Cont Lens Anterior Eye 2010; 33:157-66. [PMID: 20537579]
15. Héon E, Greenberg A, Kopp KK, Rootman D, Vincent AL, Billingsley G, Priston M, Dorval KM, Chow RL, McInnes RR, Heathcote G, Westall C, Sutphin JE, Semina E, Bremner R, Stone EM. VSX1: a gene for posterior polymorphous dystrophy and keratoconus. Hum Mol Genet 2002; 11:1029-36. [PMID: 11978762]
16. Bisceglia L, Ciaschetti M, De Bonis P, Campo PA, Pizzicoli C, Scala C, Grifa M, Ciavarella P, Delle Noci N, Vaira F, Macaluso C, Zelante L. VSX1 mutational analysis in a series of Italian patients affected by keratoconus: detection of a novel mutation. Invest Ophthalmol Vis Sci 2005; 46:39-45. [PMID: 15623752]
17. Aldave AJ, Yellore VS, Salem AK, Yoo GL, Rayner SA, Yang H, Tang GY, Piconell Y, Rabinowitz YS. No VSX1 gene mutations associated with keratoconus. Invest Ophthalmol Vis Sci 2006; 47:2820-2. [PMID: 16799019]
18. Liskova P, Ebenezer ND, Hysi PG, Gwilliam R, El-Ashry MF, Moodaley LC, Hau S, Twa M, Tuft SJ, Bhatacharya SS. Molecular analysis of the VSX1 gene in familial keratoconus. Mol Vis 2007; 13:1887-91. [PMID: 17960127]
19. Tang YG, Picornell Y, Su X, Li X, Yang H, Rabinowitz YS. Three VSX1 gene mutations, L159M, R166W, and H244R, are not associated with keratoconus. Cornea 2008; 27:189-92. [PMID: 18216574]
20. Eran P, Almogit A, David Z, Wolf HR, Hana G, Yaniv B, Elon P, Isaac A. The D144E substitution in the VSX1 gene: a nonpathogenic variant or a disease causing mutation. Ophthalmic Genet 2008; 29:53-9. [PMID: 18484309]
21. Mok JW, Baek SJ, Joo CK. VSX1 gene variants are associated with keratoconus in unrelated Korean patients. J Hum Genet 2008; 53:842-9. [PMID: 18626569]
22. Paliwal P, Singh A, Tandon R, Titiyal JS, Sharma A. A novel VSX1 mutation identified in an individual with keratoconus in India. Mol Vis 2009; 15:2475-9. [PMID: 19956409]
23. Dash DP, George S, O'Prey D, Burns D, Nabili S, Donnelly U, Hughes AE, Silvestri G, Jackson J, Frazer D, Héon E, Willoughby CE. Mutational screening of VSX1 in keratoconus patients from the European population. Eye (Lond) 2010; 24:1085-92. [PMID: 19763142]
24. Stabuc-Silih M, Strazisar M, Hawlina M, Glavac D. Absence of pathogenic mutations in VSX1 and SOD1 genes in patients with keratoconus. Cornea 2010; 29:172-6. [PMID: 20023586]
25. Tanwar M, Kumar M, Nayak B, Pathak D, Sharma N, Titiyal JS, Dada R. VSX1 gene analysis in keratoconus. Mol Vis 2010; 16:2395-401. [PMID: 21139977]
26. Abu-Amero KK, Kalantan H, Al-Muammar AM. Analysis of the VSX1 gene in keratoconus patients from Saudi Arabia. Mol Vis 2011; 17:667-72. [PMID: 21403853]
27. Bradshaw AD, Puolakkainen P, Dasgupta J, Davidson JM, Wight TN, Sage EH. SPARC-null mice display abnormalities in the dermis characterized by decreased collagen fibril diameter and reduced tensile strength. J Invest Dermatol 2003; 120:949-55. [PMID: 12787119]
28. Li X, Rabinowitz YS, Tang YG, Picornell Y, Taylor KD, Hu M, Yang H. Two-stage genome-wide linkage scan in keratoconus sib pair families. Invest Ophthalmol Vis Sci 2006; 47:3791-5. [PMID: 16936089]
29. Matthews FJ, Cook SD, Majid MA, Dick AD, Smith VA. Changes in the balance of the tissue inhibitor of matrix metalloproteinases (TIMPs)-1 and-3 may promote keratocyte apoptosis in keratoconus. Exp Eye Res 2007; 84:1125-34. [PMID: 17449031]
30. Lee JE, Oum BS, Choi HY, Lee SU, Lee JS. Evaluation of differentially expressed genes identified in keratoconus. Mol Vis 2009; 15:2480-7. [PMID: 19956410]
31. Behndig A, Karlsson K, Johansson BO, Brännström T, Marklund SL. Superoxide dismutase isoenzymes in the normal and diseased human cornea. Invest Ophthalmol Vis Sci 2001; 42:2293-6. [PMID: 11527942]
32. Udar N, Atilano SR, Brown DJ, Holguin B, Small K, Nesburn AB, Kenney MC. SOD1: a candidate gene for keratoconus. Invest Ophthalmol Vis Sci 2006; 47:3345-51. [PMID: 16877401]
33. Rabinovitz YS. The genetics of keratoconus. Ophthalmol Clin North Am 2003; 16:607-20. [PMID: 14741001]
34. Rozen S, Skaletsky HJ. Primer3 on the WWW for general users and for biologist programmers. Methods Mol Biol 2000; 132:365-86. [PMID: 10547847]
35. Hoque MO, Prencipe M, Poeta ML, Barbano R, Valori VM, Copetti M, Gallo AP, Brait M, Maiello E, Apicella A, Rossiello R, Zito F, Stefania T, Paradiso A, Carella M, Dallapiccola B, Murgo R, Carosi I, Bisceglia M, Fazio VM, Sidransky D, Parrella P. Changes in CpG islands promoter methylation patterns during ductal breast carcinoma progression. Cancer Epidemiol Biomarkers Prev 2009; 18:2694-700. [PMID: 19789364]
36. Sunyaev S, Ramensky V, Koch I, Lathe W III. Kondrashiv, Bork P. Prediction of deleterious human alleles. Hum Mol Genet 2001; 10:591-7. [PMID: 11230178]
37. Ng PC, Henikoff S. SIFT: predicting amino acid changes that affect protein function. Nucleic Acids Res 2003; 31:3812-4. [PMID: 12824425]
38. The International HapMap Consortium. Altshuler DM, Gibbs RA, Peltonen L, Altshuler DM, Gibbs RA, Peltonen L, Dermitzakis E, Schaffner SF, Yu F, Peltonen L, Dermitzakis E, Bonnen PE, Altshuler DM, Gibbs RA, de Bakker PI, Deloukas P, Gabriel SB, Gwilliam R, Hunt S, Inouye M, Jia X, Palotie A, Parkin M, Whittaker P, Yu F, Chang K, Hawes A, Lewis LR, Ren Y, Wheeler D, Gibbs RA, Muzny DM, Barnes C, Darvishi K, Hurles M, Korn JM, Kristiansson K, Lee C, McCarrol SA, Nemesh J, Dermitzakis E, Keinan A, Montgomery SB, Pollack S, Price AL, Soranzo N, Bonnen PE, Gibbs RA, Gonzaga-Jauregui C, Keinan A, Price AL, Yu F, Anttila V, Brodeur W, Daly MJ, Leslie S, McVean G, Moutsianas L, Nguyen H, Schaffner SF, Zhang Q, Ghori MJ, McGinnis R, McLaren W, Pollack S, Price AL, Schaffner SF, Takeuchi F, Grossman SR, Shlyakhter I, Hostetter EB, Sabeti PC, Adebamowo CA, Foster MW, Gordon DR, Licinio J, Manca MC, Marshall PA, Matsuda I, Ngare D, Wang VO, Reddy D, Rotimi CN, Royal CD, Sharp RR, Zeng C, Brooks LD, McEwen JE. Integrating common and rare genetic variation in diverse human populations. Nature 2010; 467:52-8. [PMID: 20811451]
39. Fullerton J, Paprocki P, Foote S, Mackey DA, Williamson R, Forrest S. Identity-by-descent approach to gene localisation in eight individuals affected by keratoconus from north-west Tasmania, Australia. Hum Genet 2002; 110:462-70. [PMID: 12073017]
40. Tyynismaa H, Sistonen P, Tuupanen S, Tervo T, Dammert A, Latvala T, Alitalo T. A locus for autosomal dominant keratoconus: linkage to 16q22.3-q23.1 in Finnish families. Invest Ophthalmol Vis Sci 2002; 43:3160-4. [PMID: 12356819]
41. Hughes AE, Dash DP, Jackson AJ, Frazer DG, Silvestri G. Familial keratoconus with cataract: linkage to the long arm of chromosome 15 and exclusion of candidate genes. Invest Ophthalmol Vis Sci 2003; 44:5063-6. [PMID: 14638698]
42. Brancati F, Valente EM, Sarkozy A, Fehèr J, Castori M, Del Duca P, Mingarelli R, Pizzuti A, Dallapiccola B. A locus for autosomal dominant keratoconusmapstohumanchromosome 3p14-q13. J Med Genet 2004; 41:188-92. [PMID: 14985379]
43. Hutchings H, Ginisty H, Le Gallo M, Levy D, Stoësser F, Rouland JF, Arné JL, Lalaux MH, Calvas P, Roth MP, Hovnanian A, Malecaze F. Identification of a new locus for isolated familial keratoconus at 2p24. J Med Genet 2005; 42:88-94. [PMID: 15635082]
44. Tang YG, Rabinowitz YS, Taylor KD, Li X, Hu M, Picornell Y, Yang H. Genomewide linkage scan in a multigeneration Caucasian pedigree identifies a novel locus for keratoconus on chromosome 5q14.3-q21.1. Genet Med 2005; 7:397-405. [PMID: 16024971]
45. Burdon KP, Coster DJ, Charlesworth JC, Mills RA, Laurie KJ, Giunta C, Hewitt AW, Latimer P, Craig JE. Apparent autosomal dominant keratoconus in a large Australian pedigree accounted for by digenic inheritance of two novel loci. Hum Genet 2008; 124:379-86. [PMID: 18795334]
46. Gajecka M, Radhakrishna U, Winters D, Nath SK, Rydzanicz M, Ratnamala U, Ewing K, Molinari A, Pitarque JA, Lee K, Leal SM, Bejjani BA. Localization of a gene for keratoconus to a 5.6-Mb interval on 13q32. Invest Ophthalmol Vis Sci 2009; 50:1531-9. [PMID: 19011015]
47. Liskova P, Hysi PG, Waseem N, Ebenezer ND, Bhattacharya SS, Tuft SJ. Evidence for keratoconus susceptibility locus on chromosome 14: a genome-wide linkage screen using singlenucleotide polymorphism markers. Arch Ophthalmol 2010; 128:1191-5. [PMID: 20837804]
48. Zhou L, Sawaguchi S, Twining SS, Sugar J, Feder RS, Yue BY. Expression of degradative enzymes and protease inhibitors in corneas with keratoconus. Invest Ophthalmol Vis Sci 1998; 39:1117-24. [PMID: 9620070]
49. Wentz-Hunter K, Cheng EL, Ueda J, Sugar J, Yue BY. Keratocan expression is increased in the stroma of keratoconus corneas. Mol Med 2001; 7:470-7. [PMID: 11683372]
50. Nielsen K, Birkenkamp-Demtroder K, Ehlers N, Orntoft TF. Identification of differentially expressed genes in keratoconus epithelium analyzed on microarrays. Invest Ophthalmol Vis Sci 2003; 44:2466-76. [PMID: 12766045]
51. Ha NT, Nakayasu K, Murakami A, Ishidoh K, Kanai A. Microarray analysis identified differentially expressed genes in keratocytes from keratoconus patients. Curr Eye Res 2004; 28:373-9. [PMID: 15512944]
52. Kenney MC, Chwa M, Atilano SR, Tran A, Carballo M, Saghizadeh M, Vasiliou V, Adachi W, Brown DJ. Increased levels of catalase and cathepsin V/L2 but decreased TIMP-1 in keratoconus corneas: evidence that oxidative stress plays a role in this disorder. Invest Ophthalmol Vis Sci 2005; 46:823-32. [PMID: 15728537]
53. Rabinowitz YS, Dong L, Wistow G. Gene expression profile studies of human keratoconus cornea for NEIBank: a novel cornea-expressed gene and the absence of transcripts for aquaporin 5. Invest Ophthalmol Vis Sci 2005; 46:1239-46. [PMID: 15790884]
54. Määttä M, Heljasvaara R, Sormunen R, Pihlajaniemi T, Autio-Harmainen H, Tervo T. Differential expression of collagen types XVIII/endostatin and XV in normal, keratoconus, and scarred human corneas. Cornea 2006; 25:341-9. [PMID: 16633037]
55. Srivastava OP, Chandrasekaran D, Pfister RR. Molecular changes in selected epithelial proteins in human keratoconus corneas compared to normal corneas. Mol Vis 2006; 12:1615-25. [PMID: 17200661]
56. Olofsson EM, Marklund SL, Pedrosa-Domellöf F, Behndig A. Interleukin-1alpha downregulates extracellular-superoxide dismutase in human corneal keratoconus stromal cells. Mol Vis 2007; 13:1285-90. [PMID: 17679946]
57. Sutton G, Madigan M, Roufas A, McAvoy J. Secreted frizzledrelated protein 1 (SFRP1) is highly upregulated in keratoconus epithelium: a novel finding highlighting a new potential focus for keratoconus research and treatment. Clin Experiment Ophthalmol 2010; 38:43-8. [PMID: 20447100]
58. Lema I, Brea D, Rodríguez-González R, Díez-Feijoo E, Sobrino T. Proteomic analysis of the tear film in patients with keratoconus. Mol Vis 2010; 16:2055-61. [PMID: 21042560]
59. Lane TF, Sage EH. The biology of SPARC, a protein that modulates cell-matrix interactions. FASEB J 1994; 8:163-73. [PMID: 8119487]
60. Sage EH, Bornstein P. Extracellular proteins that modulate cellmatrix interactions. SPARC, tenascin, and thrombospondin. J Biol Chem 1991; 266:14831-4. [PMID: 1714444]
61. Bradshaw AD, Sage EH. SPARC, a matricellular protein that functions in cellular differentiation and tissue response to injury. J Clin Invest 2001; 107:1049-54. [PMID: 11342565]
62. Kantorow M, Huang Q, Yang XJ, Sage EH, Magabo KS, Miller KM, Horwitz J. Increased expression of osteonectin/SPARC mRNA and protein in age-related human cataracts and spatial expression in the normal human lens. Mol Vis 2000; 6:24-9. [PMID: 10756178]
63. Berryhill BL, Kane B, Stramer BM, Fini ME, Hassell JR. Increased SPARC accumulation during corneal repair. Exp Eye Res 2003; 77:85-92. [PMID: 12823991]
64. Watanabe K, Okamoto F, Yokoo T, Iida KT, Suzuki H, Shimano H, Oshika T, Yamada N, Toyoshima H. SPARC is a major secretory gene expressed and involved in the development of proliferative diabetic retinopathy. J Atheroscler Thromb 2009; 16:69-76. [PMID: 19403984]
65. Chua J, Seet LF, Jiang Y, Su R, Htoon HM, Charlton A, Aung T, Wong TT. Increased SPARC expression in primary angle closure glaucoma iris. Mol Vis 2008; 14:1886-92. [PMID: 18949063]
66. Niwa J, Yamada S, Ishigaki S, Sone J, Takahashi M, Katsuno M, Tanaka F, Doyu M, Sobue G. Disulfide bond mediates aggregation, toxicity, and ubiquitylation of familial amyotrophic lateral sclerosis-linked mutant SOD1. J Biol Chem 2007; 282:28087-95. [PMID: 17666395]
67. Rosen DR, Siddique T, Patterson D, Figlewicz DA, Sapp P, Hentati A, Donaldson D, Goto J, O'Regan JP, Deng HX, Rahmani Z, Krizus A, McKenna-Yasek D, Cayabyab A, Gaston SM, Berger R, Tan RE, Halperin JJ, Herzfeldt B, Van den Bergh R, Hung WY, Bird T, Deng G, Mulder DW, Smyth C, Laing NG, Soriano E, Pericak-Vance MA, Haines J, Rouleau GA, Gusella JS, Horvitz HR, Brown RH. Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. Nature 1993; 362:59-62. [PMID: 8446170]
68. Deng HX, Hentati A, Tainer JA, Iqbal Z, Cayabyab A, Hung WY, Getzoff ED, Hu P, Herzfeldt B, Roos RP, Warner C, Deng G, Soriano E, Smyth C, Parge HE, Ahmed A, Roses AD, Hallewell RA, Pericak-Vance MA, Siddique T. Amyotrophic lateral sclerosis and structural defects in Cu, Zn superoxide dismutase. Science 1993; 261:1047-51. [PMID: 8351519]