Keratoconus - No Association with the Transforming Growth Factor β-Induced Gene in a Cohort of American Patients

Cornea

Volumn 23, Issue 1, 2004, Pages 13-17

  Udar, Nitin ^a   Kenney, M Cristina ^b   Chalukya, Meenal ^a   Anderson, Tara ^a   Morales, Liezel ^a   Brown, Donald ^b   Nesburn, Anthony ^b   Small, Kent ^a  

^a JULES STEIN EYE INSTITUTE   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

BIGH3; Corneal dystrophies; Keratoconus; Transforming growth factor induced gene

Indexed keywords

DNA; GENOMIC DNA; RNA; TRANSFORMING GROWTH FACTOR BETA;

ARTICLE; BIGH3 GENE; CASE REPORT; COHORT ANALYSIS; CONTROLLED STUDY; CORNEA DISEASE; CORNEA DYSTROPHY; DNA SEQUENCE; GENE; GENE MUTATION; HUMAN; KERATOCONUS; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; TRANSFORMING GROWTH FACTOR BETA INDUCED GENE;

AMINO ACID SUBSTITUTION; CASE-CONTROL STUDIES; COHORT STUDIES; DNA; EXONS; EXTRACELLULAR MATRIX PROTEINS; HUMANS; INTRONS; KERATOCONUS; MUTATION; POLYMORPHISM, GENETIC; TRANSFORMING GROWTH FACTOR BETA;

EID: 0346788530     PISSN: 02773740     EISSN: None     Source Type: Journal    
DOI: 10.1097/00003226-200401000-00003     Document Type: Article

References (45)

1. Rabinowitz YS. Keratoconus. Surv Ophthalmol. 1998;42:297-319.
2. Edwards M, McGhee CN, Dean S. The genetics of keratoconus. Clin Exp Ophthalmol. 2001;29:345-351.
3. Lois N, Kowal VO, Cohen EJ, et al. Indications for penetrating keratoplasty and associated procedures, 1989-1995. Cornea. 1997;16:623-629.
4. Whitelock RB, Fukuchi T, Zhou L, et al. Cathepsin G, acid phosphatase, and alpha 1-proteinase inhibitor messenger RNA levels in keratoconus corneas. Invest Ophthalmol Vis Sci. 1997;38:529-534.
5. Zhou L, Sawaguchi S, Twining SS, et al. Expression of degradative enzymes and protease inhibitors in corneas with keratoconus. Invest Ophthalmol Vis Sci. 1998;39:1117-1124.
6. Ahn CS, McMahon T, Sugar J, et al. Levels of alpha1-proteinase inhibitor and alpha2-macroglobulin in the tear film of patients with keratoconus. Cornea. 1999;18:194-198.
7. Kenney MC, Chwa M, Escobar M, et al. Altered gelatinolytic activity by keratoconus corneal cells. Biochem Biophys Res Commun. 1989;161:353-357.
8. Kenney MC, Chwa M, Opbroek AJ, et al. Increased gelatinolytic activity in keratoconus keratocyte cultures. A correlation to an altered matrix metalloproteinase-2/tissue inhibitor of metalloproteinase ratio. Cornea. 1994;13:114-124.
9. Brown D, Chwa MM, Opbroek A, et al. Keratoconus corneas: increased gelatinolytic activity appears after modification of inhibitors. Curr Eye Res. 1993;12:571-581.
10. Smith VA, Hoh HB, Littleton M, et al. Over-expression of a gelatinase A activity in keratoconus. Eye. 1995;9:429-433.
11. Smith VA, Easty DL. Matrix metalloproteinase 2: involvement in keratoconus. Eur J Ophthalmol. 2000;10:215-226.
12. Chiplunkar S, Chamblis K, Chwa M, et al. Enhanced expression of a transmembrane phosphotyrosine phosphatase (LAR) in keratoconus cultures and corneas. Exp Eye Res. 1999;68:283-293.
13. Whitelock RB, Li Y, Zhou LL, et al. Expression of transcription factors in keratoconus, a cornea-thinning disease. Biochem Biophys Res Commun. 1997;235:253-258.
14. Wentz-Hunter K, Cheng EL, Ueda J, et al. Keratocan expression is increased in the stroma of keratoconus corneas. Mol Med. 2001;7:470-477.
15. Gondhowiardjo TD, van Haeringen NJ. Corneal aldehyde dehydrogenase, glutathione reductase, and glutathione S-transferase in pathologic corneas. Cornea. 1993;12:310-314.
16. Gondhowiardjo TD, van Haeringen NJ, Volker-Dieben HJ, et al. Analysis of corneal aldehyde dehydrogenase patterns in pathologic corneas. Cornea. 1993;12:146-154.
17. Behndig A, Karlsson K, Johansson BO, et al. Superoxide dismutase isoenzymes in the normal and diseased human cornea. Invest Ophthalmol Vis Sci. 2001;42:2293-2296.
18. Buddi R, Lin B, Atilano SR, et al. Evidence of oxidative stress in human corneal diseases. J Histochem Cytochem. 2002;50:341-351.
19. Rabinowitz YS, Maumenee IH, Lundergan MK, et al. Molecular genetic analysis in autosomal dominant keratoconus. Cornea. 1992;11:302-308.
20. Wang Y, Rabinowitz YS, Rotter JI, et al. Genetic epidemiological study of keratoconus: evidence for major gene determination. Am J Med Genet. 2000;93:403-409.
21. Ihalainen A. Clinical and epidemiological features of keratoconus genetic and external factors in the pathogenesis of the disease. Acta Ophthalmol Suppl. 1986;178:1-64.
22. McMahon TT, Shin JA, Newlin A, et al. Discordance for keratoconus in two pairs of monozygotic twins. Cornea. 1999;18:444-451.
23. Valluri S, Minkovitz JB, Budak K, et al. Comparative corneal topography and refractive variables in monozygotic and dizygotic twins. Am J Ophthalmol. 1999;127:158-163.
24. Parker J, Ko WW, Pavlopoulos G, et al. Videokeratography of keratoconus in monozygotic twins. J Refract Surg. 1996;12:180-183.
25. Godel V, Blumenthal M, Iaina A. Congenital Leber amaurosis, keratoconus, and mental retardation in familial juvenile nephronophthisi. J Pediatr Ophthalmol Strabismus. 1978;15:89-91.
26. Flanders M, Lapointe ML, Brownstein S, et al. Keratoconus and Leber's congenital amaurosis: a clinicopathological correlation. Can J Ophthalmol. 1984;19:310-314.
27. Elder MJ. Leber congenital amaurosis and its association with keratoconus and keratoglobus. J Pediatr Ophthalmol Strabismus. 1994;31:38-40.
28. Hameed A, Khaliq S, Ismail M, et al. A novel locus for Leber congenital amaurosis (LCA4) with anterior keratoconus mapping to chromosome 17p13. Invest Ophthalmol Vis Sci. 2000;41:629-633.
29. Wong V, Ho D. Ocular abnormalities in Down syndrome: an analysis of 140 Chinese children. Pediatr Neurol. 1997;16:311-314.
30. Kenyon KR, Kidwell EJ. Corneal hydrops and keratoconus associated with mongolism. Arch Ophthalmol. 1976;94:494-495.
31. Walsh SZ. Keratoconus and blindness in 469 institutionalised subjects with Down syndrome and other causes of mental retardation. J Mental Defic Res. 1981;25:243-251.
32. Macsai M, Maguen E, Nucci P. Keratoconus and Turner's syndrome. Cornea. 1997;16:534-536.
33. Rabinowitz YS, Zu H, Yang Y, et al. Keratoconus: non-parametric linkage analysis suggests a gene locus near to the centromere on chromosome 21. Invest Ophthalmol Vis Sci. 1999;40(suppl):2975.
34. Heaven CJ, Lalloo F, McHale E. Keratoconus associated with chromosome 13 ring abnormality. Br J Ophthalmol. 2000;84:1079.
35. Tyynismaa H, Sistonen P, Tuupanen S, et al. A locus for autosomal dominant keratoconus: linkage to 16q22.3-q23.1 in Finnish families. Invest Ophthalmol Vis Sci. 2002;43:3160-3164.
36. Vajpayee RB, Snibson GR, Taylor HR. Association of keratoconus with granular corneal dystrophy. Aust N Z J Ophthalmol. 1996;24:369-371.
37. Klintworth GK. Advances in the molecular genetics of corneal dystrophies. Am J Ophthalmol. 1999;128:747-754.
38. Konishi M, Yamada M, Nakamura Y, et al. Immunohistology of kerato-epithelin in corneal stromal dystrophies associated with R124 mutations of the BIGH3 gene. Curr Eye Res. 2000;21:891-896.
39. Stewart H, Black GC, Donnai D, et al. A mutation within exon 14 of the TGFBI (BIGH3) gene on chromosome 5q31 causes an asymmetric, late-onset form of lattice corneal dystrophy. Ophthalmology. 1999;106:964-970.
40. Munier FL, Frueh BE, Othenin-Girard P, et al. BIGH3 mutation spectrum in corneal dystrophies. Invest Ophthalmol Vis Sci. 2002;43:949-954.
41. Schmitt-Bemard CF, Schneider C, Argiles A. Clinical, histopathologic, and ultrastructural characteristics of BIGH3(TGFBI) amyloid corneal dystrophies are supportive of the existence of a new type of LCD: the LCDi. Cornea. 2002;21:463-468.
42. Takacs L, Csutak A, Balazs E, et al. Expression of betaig-h3 is lower than normal in keratoconus corneas but increases with scarring. Cornea. 1999;18:599-605.
43. Cintron C, Hong BS. Heterogeneity of collagens in rabbit cornea: type VI collagen. Invest Ophthalmol Vis Sci. 1988;29:760-766.
44. Zimmermann DR, Trueb B, Winterhalter KH, et al. Type VI collagen is a major component of the human cornea. FEBS Lett. 1986;197:55-58.
45. Chwa M, Kenney MC, Khin H, et al. Altered type VI collagen synthesis by keratoconus keratocytes in vitro. Biochem Biophys Res Commun. 1996;224:760-764.