메뉴 건너뛰기




Volumn 56, Issue 1, 2014, Pages 478-483

Association of common SIX6 polymorphisms with peripapillary retinal nerve fiber layer thickness: The Singapore chinese eye study

Author keywords

Genetic association; Glaucoma; Retinal nerve fiver layer thickness; SIX6

Indexed keywords

ADULT; AGED; ARTICLE; CENTRAL CORNEAL THICKNESS; CONTROLLED STUDY; CROSS-SECTIONAL STUDY; DISEASE ASSOCIATION; EYE AXIS LENGTH; FEMALE; GENE; GENE FREQUENCY; GENETIC POLYMORPHISM; GENOTYPING TECHNIQUE; GLAUCOMA; HUMAN; MALE; MISSENSE MUTATION; PRIORITY JOURNAL; RETINA GANGLION CELL; RETINAL NERVE FIBER LAYER THICKNESS; SINE OCULIS HOMEOBOX 6 GENE; SPECTRAL DOMAIN OPTICAL COHERENCE TOMOGRAPHY; FOLLOW UP; GENETICS; GENOTYPE; GLAUCOMA, OPEN-ANGLE; METABOLISM; MIDDLE AGED; NERVE FIBER; OPTICAL COHERENCE TOMOGRAPHY; PATHOLOGY; PROCEDURES; RETROSPECTIVE STUDY; SINGAPORE; VERY ELDERLY;

EID: 84921630181     PISSN: 01460404     EISSN: 15525783     Source Type: Journal    
DOI: 10.1167/iovs.14-15863     Document Type: Article
Times cited : (35)

References (27)
  • 1
    • 84908473395 scopus 로고    scopus 로고
    • Global prevalence of glaucoma and projections of glaucoma burden through 2040: A systematic review and meta-analysis
    • Tham YC, Li X, Wong TY, Quigley HA, Aung T, Cheng CY. Global prevalence of glaucoma and projections of glaucoma burden through 2040: a systematic review and meta-analysis. Ophthalmology. 2014;121:2081–2090.
    • (2014) Ophthalmology , vol.121 , pp. 2081-2090
    • Tham, Y.C.1    Li, X.2    Wong, T.Y.3    Quigley, H.A.4    Aung, T.5    Cheng, C.Y.6
  • 2
    • 0028008868 scopus 로고
    • Family history and risk of primary open angle glaucoma. The Baltimore Eye Survey
    • Tielsch JM, Katz J, Sommer A, Quigley HA, Javitt JC. Family history and risk of primary open angle glaucoma. The Baltimore Eye Survey. Arch Ophthalmol. 1994;112:69–73.
    • (1994) Arch Ophthalmol , vol.112 , pp. 69-73
    • Tielsch, J.M.1    Katz, J.2    Sommer, A.3    Quigley, H.A.4    Javitt, J.C.5
  • 3
    • 0029857488 scopus 로고    scopus 로고
    • Analyses of reported family history of glaucoma: A preliminary investigation. The Barbados Eye Study Group
    • Nemesure B, Leske MC, He Q, Mendell N. Analyses of reported family history of glaucoma: a preliminary investigation. The Barbados Eye Study Group. Ophthalmic Epidemiol. 1996;3: 135–141.
    • (1996) Ophthalmic Epidemiol , vol.3 , pp. 135-141
    • Nemesure, B.1    Leske, M.C.2    He, Q.3    Mendell, N.4
  • 4
    • 84861724751 scopus 로고    scopus 로고
    • A genome-wide association study in the Japanese population confirms 9p21 and 14q23 as susceptibility loci for primary open angle glaucoma
    • Osman W, Low SK, Takahashi A, Kubo M, Nakamura Y. A genome-wide association study in the Japanese population confirms 9p21 and 14q23 as susceptibility loci for primary open angle glaucoma. Hum Mol Genet. 2012;21:2836–2842.
    • (2012) Hum Mol Genet , vol.21 , pp. 2836-2842
    • Osman, W.1    Low, S.K.2    Takahashi, A.3    Kubo, M.4    Nakamura, Y.5
  • 5
    • 84860556002 scopus 로고    scopus 로고
    • Common variants at 9p21 and 8q22 are associated with increased susceptibility to optic nerve degeneration in glaucoma
    • Wiggs JL, Yaspan BL, Hauser MA, et al. Common variants at 9p21 and 8q22 are associated with increased susceptibility to optic nerve degeneration in glaucoma. PLoS Genet. 2012;8: e1002654.
    • (2012) Plos Genet , vol.8
    • Wiggs, J.L.1    Yaspan, B.L.2    Hauser, M.A.3
  • 6
    • 77954164213 scopus 로고    scopus 로고
    • A genome-wide association study of optic disc parameters
    • Ramdas WD, van Koolwijk LM, Ikram MK, et al. A genome-wide association study of optic disc parameters. PLoS Genet. 2010;6:e1000978.
    • (2010) Plos Genet , vol.6
    • Ramdas, W.D.1    Van Koolwijk, L.M.2    Ikram, M.K.3
  • 7
    • 84921682483 scopus 로고    scopus 로고
    • Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process
    • Springelkamp H, Hohn R, Mishra A, et al. Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process. Nat Commun. 2014;5:4883.
    • (2014) Nat Commun , vol.5 , pp. 4883
    • Springelkamp, H.1    Hohn, R.2    Mishra, A.3
  • 8
    • 79957455456 scopus 로고    scopus 로고
    • Common genetic variants associated with open-angle glaucoma
    • Ramdas WD, van Koolwijk LM, Lemij HG, et al. Common genetic variants associated with open-angle glaucoma. Hum Mol Genet. 2011;20:2464–2471.
    • (2011) Hum Mol Genet , vol.20 , pp. 2464-2471
    • Ramdas, W.D.1    Van Koolwijk, L.M.2    Lemij, H.G.3
  • 9
    • 84901594800 scopus 로고    scopus 로고
    • Discovery and functional annotation of SIX6 variants in primary open-angle glaucoma
    • Ulmer Carnes M, Liu YP, Allingham RR, et al. Discovery and functional annotation of SIX6 variants in primary open-angle glaucoma. PLoS Genet. 2014;10:e1004372.
    • (2014) Plos Genet , vol.10
    • Ulmer Carnes, M.1    Liu, Y.P.2    Allingham, R.R.3
  • 10
    • 72049103953 scopus 로고    scopus 로고
    • Methodology of the Singapore Indian Chinese Cohort (SICC) eye study: Quantifying ethnic variations in the epidemiology of eye diseases in Asians
    • Lavanya R, Jeganathan VS, Zheng Y, et al. Methodology of the Singapore Indian Chinese Cohort (SICC) eye study: quantifying ethnic variations in the epidemiology of eye diseases in Asians. Ophthalmic Epidemiol. 2009;16:325–336.
    • (2009) Ophthalmic Epidemiol , vol.16 , pp. 325-336
    • Lavanya, R.1    Jeganathan, V.S.2    Zheng, Y.3
  • 11
    • 84908141200 scopus 로고    scopus 로고
    • Ethnic differences of intraocular pressure and central corneal thickness: The Singapore Epidemiology of Eye Diseases study
    • Chua J, Tham YC, Liao J, et al. Ethnic differences of intraocular pressure and central corneal thickness: the Singapore Epidemiology of Eye Diseases study. Ophthalmology. 2014;121: 2013–2022.
    • (2014) Ophthalmology , vol.121 , pp. 2013-2022
    • Chua, J.1    Tham, Y.C.2    Liao, J.3
  • 12
    • 84862833640 scopus 로고    scopus 로고
    • Determinants of quantitative optic nerve measurements using spectral domain optical coherence tomography in a population-based sample of non-glaucomatous subjects
    • Cheung CY, Chen D, Wong TY, et al. Determinants of quantitative optic nerve measurements using spectral domain optical coherence tomography in a population-based sample of non-glaucomatous subjects. Invest Ophthalmol Vis Sci. 2011;52:9629–9635.
    • (2011) Invest Ophthalmol Vis Sci , vol.52 , pp. 9629-9635
    • Cheung, C.Y.1    Chen, D.2    Wong, T.Y.3
  • 13
    • 84888639608 scopus 로고    scopus 로고
    • Relationship between ganglion cell-inner plexiform layer and optic disc/retinal nerve fibre layer parameters in non-glaucomatous eyes
    • Tham YC, Cheung CY, Koh VT, et al. Relationship between ganglion cell-inner plexiform layer and optic disc/retinal nerve fibre layer parameters in non-glaucomatous eyes. Br J Ophthalmol. 2013;97:1592–1597.
    • (2013) Br J Ophthalmol , vol.97 , pp. 1592-1597
    • Tham, Y.C.1    Cheung, C.Y.2    Koh, V.T.3
  • 14
    • 0036158752 scopus 로고    scopus 로고
    • The definition and classification of glaucoma in prevalence surveys
    • Foster PJ, Buhrmann R, Quigley HA, Johnson GJ. The definition and classification of glaucoma in prevalence surveys. Br J Ophthalmol. 2002;86:238–242.
    • (2002) Br J Ophthalmol , vol.86 , pp. 238-242
    • Foster, P.J.1    Buhrmann, R.2    Quigley, H.A.3    Johnson, G.J.4
  • 15
    • 34548292504 scopus 로고    scopus 로고
    • PLINK: A tool set for whole-genome association and population-based linkage analyses
    • Purcell S, Neale B, Todd-Brown K, et al. PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet. 2007;81:559–575.
    • (2007) Am J Hum Genet , vol.81 , pp. 559-575
    • Purcell, S.1    Neale, B.2    Todd-Brown, K.3
  • 16
    • 0033924215 scopus 로고    scopus 로고
    • Six family genes– structure and function as transcription factors and their roles in development
    • Kawakami K, Sato S, Ozaki H, Ikeda K. Six family genes– structure and function as transcription factors and their roles in development. Bioessays. 2000;22:616–626.
    • (2000) Bioessays , vol.22 , pp. 616-626
    • Kawakami, K.1    Sato, S.2    Ozaki, H.3    Ikeda, K.4
  • 17
    • 60149107489 scopus 로고    scopus 로고
    • The sine oculis homeobox (SIX) family of transcription factors as regulators of development and disease
    • Kumar JP. The sine oculis homeobox (SIX) family of transcription factors as regulators of development and disease. Cell Mol Life Sci. 2009;66:565–583.
    • (2009) Cell Mol Life Sci , vol.66 , pp. 565-583
    • Kumar, J.P.1
  • 18
    • 77954650715 scopus 로고    scopus 로고
    • Proper differentiation of photoreceptors and amacrine cells depends on a regulatory loop between NeuroD and Six6
    • Conte I, Marco-Ferreres R, Beccari L, et al. Proper differentiation of photoreceptors and amacrine cells depends on a regulatory loop between NeuroD and Six6. Development. 2010;137:2307–2317.
    • (2010) Development , vol.137 , pp. 2307-2317
    • Conte, I.1    Marco-Ferreres, R.2    Beccari, L.3
  • 19
    • 0032804010 scopus 로고    scopus 로고
    • Six6 (Optx2) is a novel murine Six3-related homeobox gene that demarcates the presumptive pituitary/hypothalamic axis and the ventral optic stalk
    • Jean D, Bernier G, Gruss P. Six6 (Optx2) is a novel murine Six3-related homeobox gene that demarcates the presumptive pituitary/hypothalamic axis and the ventral optic stalk. Mech Dev. 1999;84:31–40.
    • (1999) Mech Dev , vol.84 , pp. 31-40
    • Jean, D.1    Bernier, G.2    Gruss, P.3
  • 20
    • 0025829463 scopus 로고
    • Deletion 14q (Q22q23) associated with anophthalmia, absent pituitary, and other abnormalities
    • Bennett CP, Betts DR, Seller MJ. Deletion 14q (q22q23) associated with anophthalmia, absent pituitary, and other abnormalities. J Med Genet. 1991;28:280–281.
    • (1991) J Med Genet , vol.28 , pp. 280-281
    • Bennett, C.P.1    Betts, D.R.2    Seller, M.J.3
  • 21
    • 0027468587 scopus 로고
    • A case of deletion 14(Q22.1–>q22.3) associated with anophthalmia and pituitary abnormalities
    • Elliott J, Maltby EL, Reynolds B. A case of deletion 14(q22.1–>q22.3) associated with anophthalmia and pituitary abnormalities. J Med Genet. 1993;30:251–252.
    • (1993) J Med Genet , vol.30 , pp. 251-252
    • Elliott, J.1    Maltby, E.L.2    Reynolds, B.3
  • 22
    • 0032079397 scopus 로고    scopus 로고
    • Del(14)(q22.1q23.2) in a patient with anophthalmia and pituitary hypoplasia
    • Lemyre E, Lemieux N, Decarie JC, Lambert M. Del(14)(q22.1q23.2) in a patient with anophthalmia and pituitary hypoplasia. Am J Med Genet. 1998;77:162–165.
    • (1998) Am J Med Genet , vol.77 , pp. 162-165
    • Lemyre, E.1    Lemieux, N.2    Decarie, J.C.3    Lambert, M.4
  • 23
    • 84894052955 scopus 로고    scopus 로고
    • Exome sequencing and functional analyses suggest that SIX6 is a gene involved in an altered proliferation-differentiation balance early in life and optic nerve degeneration at old age
    • Iglesias AI, Springelkamp H, van der Linde H, et al. Exome sequencing and functional analyses suggest that SIX6 is a gene involved in an altered proliferation-differentiation balance early in life and optic nerve degeneration at old age. Hum Mol Genet. 2014;23:1320–1332.
    • (2014) Hum Mol Genet , vol.23 , pp. 1320-1332
    • Iglesias, A.I.1    Springelkamp, H.2    Van Der Linde, H.3
  • 24
    • 84975742565 scopus 로고    scopus 로고
    • A map of human genome variation from population-scale sequencing
    • 1000 Genomes Project Consortium, Abecasis GR, Altshuler D, et al. A map of human genome variation from population-scale sequencing. Nature. 2010;467:1061–1073.
    • (2010) Nature , vol.467 , pp. 1061-1073
    • Abecasis, G.R.1    Altshuler, D.2
  • 25
    • 84884246440 scopus 로고    scopus 로고
    • Investigation of known genetic risk factors for primary open angle glaucoma in two populations of African ancestry
    • Liu Y, Hauser MA, Akafo SK, et al. Investigation of known genetic risk factors for primary open angle glaucoma in two populations of African ancestry. Invest Ophthalmol Vis Sci. 2013;54:6248–6254.
    • (2013) Invest Ophthalmol Vis Sci , vol.54 , pp. 6248-6254
    • Liu, Y.1    Hauser, M.A.2    Akafo, S.K.3
  • 26
    • 84858603277 scopus 로고    scopus 로고
    • Effect of race, age, and axial length on optic nerve head parameters and retinal nerve fiber layer thickness measured by Cirrus
    • Knight OJ, Girkin CA, Budenz DL, Durbin MK, Feuer WJ, Cirrus OCT Normative Database Study Group. Effect of race, age, and axial length on optic nerve head parameters and retinal nerve fiber layer thickness measured by Cirrus HD-OCT. Arch Ophthalmol. 2012;130:312–318.
    • (2012) Arch Ophthalmol , vol.130 , pp. 312-318
    • Knight, O.J.1    Girkin, C.A.2    Budenz, D.L.3    Durbin, M.K.4    Feuer, W.J.5
  • 27
    • 84883550888 scopus 로고    scopus 로고
    • Analysis of normal retinal nerve fiber layer thickness by age, sex, and race using spectral domain optical coherence tomography
    • Alasil T, Wang K, Keane PA, et al. Analysis of normal retinal nerve fiber layer thickness by age, sex, and race using spectral domain optical coherence tomography. J Glaucoma. 2013;22:532–541.
    • (2013) J Glaucoma , vol.22 , pp. 532-541
    • Alasil, T.1    Wang, K.2    Keane, P.A.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.