A novel genetic variant of BMP2K contributes to high myopia

Journal of Clinical Laboratory Analysis

Volumn 23, Issue 6, 2009, Pages 362-367

  Liu, Hsin Ping ^a   Lin, Ying Ju ^a,b   Lin, Wei Yong ^a,b   Wan, Lei ^a,b   Sheu, Jim Jinn Chyuan ^a,b   Lin, Hui Ju ^b   Tsai, Yuhsin ^a   Tsai, Chang Hai ^c   Tsai, Fuu Jen ^a,b,c  

^a CHINA MEDICAL UNIVERSITY   (Taiwan)

^b CHINA MEDICAL UNIVERSITY HOSPITAL   (Taiwan)

^c ASIA UNIVERSITY   (Taiwan)

Author keywords

Bone morphogenetic protein; High myopia; Single nucleotide polymorphism

Indexed keywords

ADULT; ALLELE; ARTICLE; CONTROLLED STUDY; GENE FREQUENCY; GENE IDENTIFICATION; GENETIC POLYMORPHISM; GENETIC RISK; GENETIC VARIABILITY; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; MYOPIA; PATHOGENESIS; POLYMERASE CHAIN REACTION; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; RISK FACTOR;

ADOLESCENT; ADULT; BONE MORPHOGENETIC PROTEIN 2; CASE-CONTROL STUDIES; FEMALE; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MALE; MYOPIA; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEIN ISOFORMS; YOUNG ADULT;

EID: 73249130155     PISSN: 08878013     EISSN: 10982825     Source Type: Journal    
DOI: 10.1002/jcla.20344     Document Type: Article

References (48)

1. Saw SM, Katz J, Schein OD, Chew SJ, Chan TK. Epidemiology of myopia. Epidemiol Rev 1996;18:175-187.
2. Seet B, Wong TY, Tan DT, et al. Myopia in Singapore: Taking a public health approach. Br J Ophthalmol 2001;85:521-526.
3. Lin LL, Shih YF, Hsiao CK, Chen CJ. Prevalence of myopia in Taiwanese schoolchildren: 1983 to 2000. Ann Acad Med 2004;33:27-33.
4. Steidl SM, Pruett RC. Macular complications associated with posterior staphyloma. Am J Ophthalmol 1997;123:181-187.
5. Rabb MF, Garoon I, LaFranco FP. Myopic macular degeneration. Int Ophthalmol Clin 1981;21:51-69.
6. Hayasaka S, Uchida M, Setogawa T. Subretinal hemorrhages with or without choroidal neovascularization in the maculas of patients with pathologic myopia. Graefe's archive for clinical and experimental ophthalmology. Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie 1990;228:277-280.
7. Saw SM, Gazzard G, Shih-Yen EC, Chua WH. Myopia and associated pathological complications. Ophthalmic Physiol Opt 2005;25:381-391.
8. Saunders KJ, McCulloch DL, Shepherd AJ, Wilkinson AG. Emmetropisation following preterm birth. Br J Ophthalmol 2002;86:1035-1040.
9. Au Eong KG, Tay TH, Lim MK. Education and myopia in 110,236 young Singaporean males. Singapore Med J 1993;34:489-492.
10. Feldkamper M, Schaeffel F. Interactions of genes and environment in myopia. Dev Ophthalmol 2003;37:34-49.
11. Goss DA. Nearwork and myopia. Lancet 2000;356:1456-1457.
12. Wu MM, Edwards MH. The effect of having myopic parents: An analysis of myopia in three generations. Optom Vis Sci 1999;76:387-392.
13. Mutti DO, Mitchell GL, Moeschberger ML, Jones LA, Zadnik K. Parental myopia, near work, school achievement, and children's refractive error. Invest Ophthalmol Vis Sci 2002;43:3633-3640.
14. Scott R, Grosvenor T. Structural model for emmetropic and myopic eyes. Ophthalmic Physiol Opt 1993;13:41-47.
15. Rada JA, Shelton S, Norton TT. The sclera and myopia. Exp Eye Res 2006;82:185-200.
16. Muir H. Proteoglycans as organizers of the intercellular matrix. Biochem Soc Trans 1983;11:613-622.
17. Rada JA, Achen VR, Penugonda S, Schmidt RW, Mount BA. Proteoglycan composition in the human sclera during growth and aging. Invest Ophthalmol Vis Sci 2000;41:1639-1648.
18. Norton TT, Rada JA. Reduced extracellular matrix in mammalian sclera with induced myopia. Vis Res 1995;35:1271-1281.
19. Avetisov ES, Savitskaya NF, Vinetskaya MI, Iomdina EN. A study of biochemical and biomechanical qualities of normal and myopic eye sclera in humans of different age groups. Metab Pediatr Syst Ophthalmol 1983;7:183-188.
20. Wallman J, Winawer J. Homeostasis of eye growth and the question of myopia. Neuron 2004;43:447-468.
21. Belecky-Adams T, Adler R. Developmental expression patterns of bone morphogenetic proteins, receptors, and binding proteins in the chick retina. J Comp Neurol 2001;430:562-572.
22. Mathura Jr JR, Jafari N, Chang JT, et al. Bone morphogenetic proteins-2 and -4: Negative growth regulators in adult retinal pigmented epithelium. Invest Ophthalmol Vis Sci 2000;41:592-600.
23. Solursh M, Langille RM, Wood J, Sampath TK. Osteogenic protein-1 is required for mammalian eye development. Biochem Biophys Res Commun 1996;218:438-443.
24. Bakrania P, Efthymiou M, Klein JC, et al. Mutations in BMP4 cause eye, brain, and digit developmental anomalies: Overlap between the BMP4 and hedgehog signaling pathways. Am J Hum Genet 2008;82:304-319.
25. Reddi AH. Role of morphogenetic proteins in skeletal tissue engineering and regeneration. Nat Biotechnol 1998;16:247-252.
26. Hogan BL. Bone morphogenetic proteins: Multifunctional regulators of vertebrate development. Genes Dev 1996;10:1580-1594.
27. McGlinn AM, Baldwin DA, Tobias JW, Budak MT, Khurana TS, Stone RA. Form-deprivation myopia in chick induces limited changes in retinal gene expression. Invest Ophthalmol Vis Sci 2007;48:3430-3436.
28. Belecky-Adams TL, Adler R, Beebe DC. Bone morphogenetic protein signaling and the initiation of lens fiber cell differentiation. Development (Cambridge, England) 2002;129:3795-3802.
29. Sakuta H, Takahashi H, Shintani T, Etani K, Aoshima A, Noda M. Role of bone morphogenic protein 2 in retinal patterning and retinotectal projection. J Neurosci 2006;26:10868-10878.
30. Jacobi FK, Zrenner E, Broghammer M, Pusch CM. A genetic perspective on myopia. Cell Mol Life Sci 2005;62:800-808.
31. Kearns AE, Donohue MM, Sanyal B, Demay MB. Cloning and characterization of a novel protein kinase that impairs osteoblast differentiation in vitro. J Biol Chem 2001;276:42213-42218.
32. Christensen AM, Wallman J. Evidence that increased scleral growth underlies visual deprivation myopia in chicks. Invest Ophthalmol Vis Sci 1991;32:2143-2150.
33. Phillips JR, Khalaj M, McBrien NA. Induced myopia associated with increased scleral creep in chick and tree shrew eyes. Invest Ophthalmol Vis Sci 2000;41:2028-2034.
34. Siegwart Jr JT, Norton TT. Regulation of the mechanical properties of tree shrew sclera by the visual environment. Vis Res 1999;39:387-407.
35. Marshall GE, Konstas AG, Lee WR. Collagens in ocular tissues. Br J Ophthalmol 1993;77:515-524.
36. Gentle A, Liu Y, Martin JE, Conti GL, McBrien NA. Collagen gene expression and the altered accumulation of scleral collagen during the development of high myopia. J Biol Chem 2003;278:16587-16594.
37. Jobling AI, Nguyen M, Gentle A, McBrien NA. Isoform-specific changes in scleral transforming growth factor-beta expression and the regulation of collagen synthesis during myopia progression. J Biol Chem 2004;279:18121-18126.
38. Honda S, Fujii S, Sekiya Y, Yamamoto M. Retinal control on the axial length mediated by transforming growth factor-beta in chick eye. Invest Ophthalmol Vis Sci 1996;37:2519-2526.
39. Wordinger RJ, Agarwal R, Talati M, Fuller J, Lambert W, Clark AF. Expression of bone morphogenetic proteins (BMP), BMP receptors, and BMP associated proteins in human trabecular meshwork and optic nerve head cells and tissues. Mol Vis 2002;8:241-250.
40. Kerrison JB, Lewis RN, Otteson DC, Zack DJ. Bone morphogenetic proteins promote neurite outgrowth in retinal ganglion cells. Mol Vis 2005;11:208-215.
41. Kim WJ, Mohan RR, Mohan RR, Wilson SE. Effect of PDGF, IL-1alpha, and BMP2/4 on corneal fibroblast chemotaxis: Expression of the platelet-derived growth factor system in the cornea. Invest Ophthalmol Vis Sci 1999;40:1364-1372.
42. Mohan RR, Kim WJ, Mohan RR, Chen L, Wilson SE. Bone morphogenic proteins 2 and 4 and their receptors in the adult human cornea. Invest Ophthalmol Vis Sci 1998;39:2626-2636.
43. Wozney JM, Rosen V, Celeste AJ, et al. Novel regulators of bone formation: Molecular clones and activities. Science 1988;242:1528-1534.
44. Kingsley DM. The TGF-beta superfamily: New members, new receptors, and new genetic tests of function in different organisms. Genes Dev 1994;8:133-146.
45. Goumans MJ, Mummery C. Functional analysis of the TGFbeta receptor/Smad pathway through gene ablation in mice. Int J Dev Biol 2000;44:253-265.
46. ten Dijke P, Miyazono K, Heldin CH. Signaling inputs converge on nuclear effectors in TGF-beta signaling. Trends Biochem Sci 2000;25:64-70.
47. Verschueren K, Huylebroeck D. Remarkable versatility of Smad proteins in the nucleus of transforming growth factor-beta activated cells. Cytokine Growth Factor Rev 1999;10:187-199.
48. Hofmann A, Ritz U, Hessmann MH, Alini M, Rommens PM, Rompe JD. Extracorporeal shock wave-mediated changes in proliferation, differentiation, and gene expression of human osteoblasts. J Trauma 2008;65:1402-1410.