메뉴 건너뛰기




Volumn 128, Issue 9, 2010, Pages 1191-1195

Evidence for keratoconus susceptibility locus on chromosome 14: A genome-wide linkage screen using single-nucleotide polymorphism markers

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CHROMOSOME 14; FEMALE; GENE LOCUS; GENETIC LINKAGE; GENETIC SCREENING; GENETIC SUSCEPTIBILITY; HOMEOBOX; HUMAN; KERATOCONUS; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; ADOLESCENT; ADULT; AGED; DNA MICROARRAY; GENE EXPRESSION PROFILING; GENETIC PREDISPOSITION; GENETICS; GENOTYPE; MIDDLE AGED; PEDIGREE;

EID: 77957015775     PISSN: 00039950     EISSN: 15383601     Source Type: Journal    
DOI: 10.1001/archophthalmol.2010.200     Document Type: Article
Times cited : (36)

References (33)
  • 1
    • 0022509824 scopus 로고
    • Clinical and epidemiological features of keratoconus genetic and external factors in the pathogenesis of the disease
    • 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.
    • (1986) Acta Ophthalmol Suppl , vol.178 , pp. 1-64
    • Ihalainen, A.1
  • 2
    • 0022577146 scopus 로고
    • A 48-year clinical and epidemiologic study of keratoconus
    • Kennedy RH, Bourne WM, Dyer JA. A 48-year clinical and epidemiologic study of keratoconus. Am J Ophthalmol. 1986;101(3):267-273.
    • (1986) Am J Ophthalmol , vol.101 , Issue.3 , pp. 267-273
    • Kennedy, R.H.1    Bourne, W.M.2    Dyer, J.A.3
  • 4
    • 70350572202 scopus 로고    scopus 로고
    • Prevalence and associations of keratoconus in rural maharashtra in central India: The central India eye and medical study
    • Jonas JB, Nangia V, Matin A, Kulkarni M, Bhojwani K. Prevalence and associations of keratoconus in rural maharashtra in central India: the central India eye and medical study. Am J Ophthalmol. 2009;148(5):760-765.
    • (2009) Am J Ophthalmol , vol.148 , Issue.5 , pp. 760-765
    • Jonas, J.B.1    Nangia, V.2    Matin, A.3    Kulkarni, M.4    Bhojwani, K.5
  • 5
  • 6
    • 2342465005 scopus 로고    scopus 로고
    • Videokeratographic anomalies in familial keratoconus
    • Levy D, Hutchings H, Rouland JF, et al. Videokeratographic anomalies in familial keratoconus. Ophthalmology. 2004;111(5):867-874.
    • (2004) Ophthalmology , vol.111 , Issue.5 , pp. 867-874
    • Levy, D.1    Hutchings, H.2    Rouland, J.F.3
  • 9
    • 0037365158 scopus 로고    scopus 로고
    • A profile of keratoconus in New Zealand
    • Owens H, Gamble G. A profile of keratoconus in New Zealand. Cornea. 2003; 22(2):122-125.
    • (2003) Cornea , vol.22 , Issue.2 , pp. 122-125
    • Owens, H.1    Gamble, G.2
  • 10
    • 0036590069 scopus 로고    scopus 로고
    • Identity-by-descent approach to gene localisation in eight individuals affected by keratoconus from north-west Tasmania, Australia
    • 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(5):462-470.
    • (2002) Hum Genet , vol.110 , Issue.5 , pp. 462-470
    • Fullerton, J.1    Paprocki, P.2    Foote, S.3    Mackey, D.A.4    Williamson, R.5    Forrest, S.6
  • 11
    • 0036566556 scopus 로고    scopus 로고
    • VSX1: A gene for posterior polymorphous dystrophy and keratoconus
    • Héon E, Greenberg A, Kopp KK, et al. VSX1: a gene for posterior polymorphous dystrophy and keratoconus. Hum Mol Genet. 2002;11(9):1029-1036.
    • (2002) Hum Mol Genet , vol.11 , Issue.9 , pp. 1029-1036
    • Héon, E.1    Greenberg, A.2    Kopp, K.K.3
  • 12
    • 0036784886 scopus 로고    scopus 로고
    • A locus for autosomal dominant keratoconus: Linkage to 16q22.3-q23.1 in Finnish families
    • 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(10):3160-3164.
    • (2002) Invest Ophthalmol Vis Sci , vol.43 , Issue.10 , pp. 3160-3164
    • Tyynismaa, H.1    Sistonen, P.2    Tuupanen, S.3
  • 13
    • 0345714659 scopus 로고    scopus 로고
    • Familial keratoconus with cataract: Linkage to the long arm of chromosome 15 and exclusion of candidate genes
    • 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(12):5063-5066.
    • (2003) Invest Ophthalmol Vis Sci , vol.44 , Issue.12 , pp. 5063-5066
    • Hughes, A.E.1    Dash, D.P.2    Jackson, A.J.3    Frazer, D.G.4    Silvestri, G.5
  • 14
    • 1542616280 scopus 로고    scopus 로고
    • A locus for autosomal dominant keratoconus maps to human chromosome 3p14-q13
    • Brancati F, Valente EM, Sarkozy A, et al. A locus for autosomal dominant keratoconus maps to human chromosome 3p14-q13. J Med Genet. 2004;41(3):188-192.
    • (2004) J Med Genet , vol.41 , Issue.3 , pp. 188-192
    • Brancati, F.1    Valente, E.M.2    Sarkozy, A.3
  • 15
    • 19944430943 scopus 로고    scopus 로고
    • Identification of a new locus for isolated familial keratoconus at 2p24
    • Hutchings H, Ginisty H, Le Gallo M, et al. Identification of a new locus for isolated familial keratoconus at 2p24. J Med Genet. 2005;42(1):88-94.
    • (2005) J Med Genet , vol.42 , Issue.1 , pp. 88-94
    • Hutchings, H.1    Ginisty, H.2    Le Gallo, M.3
  • 16
    • 23744433964 scopus 로고    scopus 로고
    • Genomewide linkage scan in a multigeneration Caucasian pedigree identifies a novel locus for keratoconus on chromosome 5q14.3-q21.1
    • Tang YG, Rabinowitz YS, Taylor KD, et al. Genomewide linkage scan in a multigeneration Caucasian pedigree identifies a novel locus for keratoconus on chromosome 5q14.3-q21.1. Genet Med. 2005;7(6):397-405.
    • (2005) Genet Med , vol.7 , Issue.6 , pp. 397-405
    • Tang, Y.G.1    Rabinowitz, Y.S.2    Taylor, K.D.3
  • 17
    • 33749149463 scopus 로고    scopus 로고
    • Two-stage genome-wide linkage scan in keratoconus sib pair families
    • Li X, Rabinowitz YS, Tang YG, et al. Two-stage genome-wide linkage scan in keratoconus sib pair families. Invest Ophthalmol Vis Sci. 2006;47(9):3791-3795.
    • (2006) Invest Ophthalmol Vis Sci , vol.47 , Issue.9 , pp. 3791-3795
    • Li, X.1    Rabinowitz, Y.S.2    Tang, Y.G.3
  • 18
    • 55749116326 scopus 로고    scopus 로고
    • Apparent autosomal dominant keratoconus in a large Australian pedigree accounted for by digenic inheritance of two novel loci
    • Burdon KP, Coster DJ, Charlesworth JC, et al. Apparent autosomal dominant keratoconus in a large Australian pedigree accounted for by digenic inheritance of two novel loci. Hum Genet. 2008;124(4):379-386.
    • (2008) Hum Genet , vol.124 , Issue.4 , pp. 379-386
    • Burdon, K.P.1    Coster, D.J.2    Charlesworth, J.C.3
  • 19
    • 62649139163 scopus 로고    scopus 로고
    • Linkage analysis in keratoconus: Replication of locus 5q21.2 and identification of other suggestive Loci
    • Bisceglia L, De Bonis P, Pizzicoli C, et al. Linkage analysis in keratoconus: replication of locus 5q21.2 and identification of other suggestive Loci. Invest Ophthalmol Vis Sci. 2009;50(3):1081-1086.
    • (2009) Invest Ophthalmol Vis Sci , vol.50 , Issue.3 , pp. 1081-1086
    • Bisceglia, L.1    De Bonis, P.2    Pizzicoli, C.3
  • 20
    • 64049099287 scopus 로고    scopus 로고
    • Localization of agenefor keratoconus to a 5.6-Mb interval on 13q32
    • Gajecka M, Radhakrishna U, Winters D, et al. Localization of agenefor keratoconus to a 5.6-Mb interval on 13q32. Invest Ophthalmol Vis Sci. 2009;50(4):1531-1539.
    • (2009) Invest Ophthalmol Vis Sci , vol.50 , Issue.4 , pp. 1531-1539
    • Gajecka, M.1    Radhakrishna, U.2    Winters, D.3
  • 21
    • 0034726692 scopus 로고    scopus 로고
    • Genetic epidemiological study of keratoconus: Evidence for major gene determination
    • Wang Y, Rabinowitz YS, Rotter JI, Yang H. Genetic epidemiological study of keratoconus: evidence for major gene determination. Am J Med Genet. 2000; 93(5):403-409.
    • (2000) Am J Med Genet , vol.93 , Issue.5 , pp. 403-409
    • Wang, Y.1    Rabinowitz, Y.S.2    Rotter, J.I.3    Yang, H.4
  • 22
    • 33847076795 scopus 로고    scopus 로고
    • Evaluation of keratoconus in Asians: Role of Orbscan II and Tomey TMS-2 corneal topography
    • Lim L, Wei RH, Chan WK, Tan DT. Evaluation of keratoconus in Asians: role of Orbscan II and Tomey TMS-2 corneal topography. Am J Ophthalmol. 2007; 143(3):390-400.
    • (2007) Am J Ophthalmol , vol.143 , Issue.3 , pp. 390-400
    • Lim, L.1    Wei, R.H.2    Chan, W.K.3    Tan, D.T.4
  • 23
    • 24044550689 scopus 로고    scopus 로고
    • PEDSTATS: Descriptive statistics, graphics and quality assessment for gene mapping data
    • Wigginton JE, Abecasis GR. PEDSTATS: descriptive statistics, graphics and quality assessment for gene mapping data. Bioinformatics. 2005;21(16):3445- 3447.
    • (2005) Bioinformatics , vol.21 , Issue.16 , pp. 3445-3447
    • Wigginton, J.E.1    Abecasis, G.R.2
  • 24
    • 0036338150 scopus 로고    scopus 로고
    • Merlin - Rapid analysis of dense genetic maps using sparse gene flow trees
    • Abecasis GR, Cherny SS, Cookson WO, Cardon LR. Merlin - rapid analysis of dense genetic maps using sparse gene flow trees. Nat Genet. 2002;30(1):97-101.
    • (2002) Nat Genet , vol.30 , Issue.1 , pp. 97-101
    • Abecasis, G.R.1    Cherny, S.S.2    Cookson, W.O.3    Cardon, L.R.4
  • 25
    • 18944361861 scopus 로고    scopus 로고
    • Joint modeling of linkage and association: Identifying SNPs responsible for a linkage signal
    • Li M, Boehnke M, Abecasis GR. Joint modeling of linkage and association: identifying SNPs responsible for a linkage signal. Am J Hum Genet. 2005;76(6): 934-949.
    • (2005) Am J Hum Genet , vol.76 , Issue.6 , pp. 934-949
    • Li, M.1    Boehnke, M.2    Abecasis, G.R.3
  • 26
    • 33747850181 scopus 로고    scopus 로고
    • Quantitative trait linkage analysis using Gaussian copulas
    • Li M, Boehnke M, Abecasis GR, Song PX. Quantitative trait linkage analysis using Gaussian copulas. Genetics. 2006;173(4):2317-2327.
    • (2006) Genetics , vol.173 , Issue.4 , pp. 2317-2327
    • Li, M.1    Boehnke, M.2    Abecasis, G.R.3    Song, P.X.4
  • 27
    • 13344249785 scopus 로고    scopus 로고
    • Ocular retardation mouse caused by Chx10 homeobox null allele: Impaired retinal progenitor proliferation and bipolar cell differentiation
    • Burmeister M, Novak J, Liang MY, et al. Ocular retardation mouse caused by Chx10 homeobox null allele: impaired retinal progenitor proliferation and bipolar cell differentiation. Nat Genet. 1996;12(4):376-384.
    • (1996) Nat Genet , vol.12 , Issue.4 , pp. 376-384
    • Burmeister, M.1    Novak, J.2    Liang, M.Y.3
  • 28
    • 4544279121 scopus 로고    scopus 로고
    • CHX10 mutations cause non-syndromic microphthalmia/ anophthalmia in Arab and Jewish kindreds
    • Bar-Yosef U, Abuelaish I, Harel T, Hendler N, Ofir R, Birk OS. CHX10 mutations cause non-syndromic microphthalmia/ anophthalmia in Arab and Jewish kindreds. Hum Genet. 2004;115(4):302-309.
    • (2004) Hum Genet , vol.115 , Issue.4 , pp. 302-309
    • Bar-Yosef, U.1    Abuelaish, I.2    Harel, T.3    Hendler, N.4    Ofir, R.5    Birk, O.S.6
  • 29
    • 0034425404 scopus 로고    scopus 로고
    • Human microphthalmia associated with mutations in the retinal homeobox gene CHX10
    • Ferda Percin E, Ploder LA, Yu JJ, et al. Human microphthalmia associated with mutations in the retinal homeobox gene CHX10. Nat Genet. 2000;25(4):397-401.
    • (2000) Nat Genet , vol.25 , Issue.4 , pp. 397-401
    • Ferda Percin, E.1    Ploder, L.A.2    Yu, J.J.3
  • 31
    • 35148812750 scopus 로고    scopus 로고
    • Molecular analysis of the VSX1 gene in familial keratoconus
    • Liskova P, Ebenezer ND, Hysi PG, et al. Molecular analysis of the VSX1 gene in familial keratoconus. Mol Vis. 2007;13:1887-1891.
    • (2007) Mol Vis , vol.13 , pp. 1887-1891
    • Liskova, P.1    Ebenezer, N.D.2    Hysi, P.G.3
  • 32
    • 0028877463 scopus 로고
    • Genetic dissection of complex traits: Guidelines for interpreting and reporting linkage results
    • Lander E, Kruglyak L. Genetic dissection of complex traits: guidelines for interpreting and reporting linkage results. Nat Genet. 1995;11(3):241-247.
    • (1995) Nat Genet , vol.11 , Issue.3 , pp. 241-247
    • Lander, E.1    Kruglyak, L.2
  • 33
    • 19944416896 scopus 로고    scopus 로고
    • VSX1 mutational analysis in a series of Italian patients affected by keratoconus: Detection of a novel mutation
    • Bisceglia L, Ciaschetti M, De Bonis P, et al. VSX1 mutational analysis in a series of Italian patients affected by keratoconus: detection of a novel mutation. Invest Ophthalmol Vis Sci. 2005;46(1):39-45.
    • (2005) Invest Ophthalmol Vis Sci , vol.46 , Issue.1 , pp. 39-45
    • Bisceglia, L.1    Ciaschetti, M.2    De Bonis, P.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.