메뉴 건너뛰기




Volumn 15, Issue 1, 2015, Pages

Common synonymous variants in ABCA4 are protective for chloroquine induced maculopathy (toxic maculopathy) Neuro-ophthalmology

Author keywords

ABCA4; Age related macular degeneration; Chloroquine induced maculopathy; Genetic association; Stargardt's disease

Indexed keywords

ABC TRANSPORTER; ABCA4 PROTEIN, HUMAN; ANTIRHEUMATIC AGENT; CHLOROQUINE;

EID: 84924954552     PISSN: None     EISSN: 14712415     Source Type: Journal    
DOI: 10.1186/s12886-015-0008-0     Document Type: Article
Times cited : (39)

References (29)
  • 1
    • 0038154372 scopus 로고    scopus 로고
    • The incidence of irreversible retinal toxicity in patients treated with hydroxychloroquine: A reappraisal
    • Mavrikakis I, Sfikakis PP, Mavrikakis E, Rougas K, Nikolaou A, Kostopoulos C, et al. The incidence of irreversible retinal toxicity in patients treated with hydroxychloroquine: a reappraisal. Ophthalmology. 2003;110:1321-6.
    • (2003) Ophthalmology , vol.110 , pp. 1321-1326
    • Mavrikakis, I.1    Sfikakis, P.P.2    Mavrikakis, E.3    Rougas, K.4    Nikolaou, A.5    Kostopoulos, C.6
  • 2
    • 0030954774 scopus 로고    scopus 로고
    • Incidence of hydroxychloroquine retinopathy in 1,207 patients in a large multicenter outpatient practice
    • 1:CAS:528:DyaK2sXls1OktLs%3D 9259429
    • Levy GD, Munz SJ, Paschal J, Cohen HB, Pince KJ, Peterson T. Incidence of hydroxychloroquine retinopathy in 1,207 patients in a large multicenter outpatient practice. Arthritis Rheum. 1997;40:1482-6.
    • (1997) Arthritis Rheum , vol.40 , pp. 1482-1486
    • Levy, G.D.1    Munz, S.J.2    Paschal, J.3    Cohen, H.B.4    Pince, K.J.5    Peterson, T.6
  • 3
    • 0022005273 scopus 로고
    • Comparison of hydroxychloroquine and chloroquine use and the development of retinal toxicity
    • 1:STN:280:DyaL28%2FjslWitA%3D%3D 4057189
    • Finbloom DS, Silver K, Newsome DA, Gunkel R. Comparison of hydroxychloroquine and chloroquine use and the development of retinal toxicity. J Rheumatol. 1985;12:692-4.
    • (1985) J Rheumatol , vol.12 , pp. 692-694
    • Finbloom, D.S.1    Silver, K.2    Newsome, D.A.3    Gunkel, R.4
  • 4
    • 84918584162 scopus 로고    scopus 로고
    • The risk of toxic retinopathy in patients on long-term hydroxychloroquine therapy
    • Melles RB, Marmor MF. The risk of toxic retinopathy in patients on long-term hydroxychloroquine therapy. JAMA Ophthalmol. 2014;132:1453-60.
    • (2014) JAMA Ophthalmol , vol.132 , pp. 1453-1460
    • Melles, R.B.1    Marmor, M.F.2
  • 5
    • 78649835540 scopus 로고    scopus 로고
    • Evaluation of risk factors for retinal damage due to chloroquine and hydroxychloroquine
    • 1:STN:280:DC%2BC3cbosVKisw%3D%3D 20940312
    • Bergholz R, Schroeter J, Rüther K. Evaluation of risk factors for retinal damage due to chloroquine and hydroxychloroquine. Br J Ophthalmol. 2010;94:1637-42.
    • (2010) Br J Ophthalmol , vol.94 , pp. 1637-1642
    • Bergholz, R.1    Schroeter, J.2    Rüther, K.3
  • 6
    • 79551548116 scopus 로고    scopus 로고
    • Revised recommendations on screening for chloroquine and hydroxychloroquine retinopathy
    • Marmor MF, Kellner U, Lai TYY, Lyons JS, Mieler WF. Revised recommendations on screening for chloroquine and hydroxychloroquine retinopathy. Ophthalmology. 2011;118:415-22.
    • (2011) Ophthalmology , vol.118 , pp. 415-422
    • Marmor, M.F.1    Kellner, U.2    Lai, T.Y.Y.3    Lyons, J.S.4    Mieler, W.F.5
  • 7
    • 84908102412 scopus 로고    scopus 로고
    • Regular examinations for toxic maculopathy in long-term chloroquine or hydroxychloroquine users
    • 1:CAS:528:DC%2BC2MXit1Kltg%3D%3D 24970348
    • Nika M, Blachley TS, Edwards P, Lee PP, Stein JD. Regular examinations for toxic maculopathy in long-term chloroquine or hydroxychloroquine users. JAMA Ophthalmol. 2014;132:1199-208.
    • (2014) JAMA Ophthalmol , vol.132 , pp. 1199-1208
    • Nika, M.1    Blachley, T.S.2    Edwards, P.3    Lee, P.P.4    Stein, J.D.5
  • 8
    • 0035008168 scopus 로고    scopus 로고
    • Analysis of the ABCR (ABCA4) gene in 4-aminoquinoline retinopathy: Is retinal toxicity by chloroquine and hydroxychloroquine related to Stargardt disease?
    • 1:CAS:528:DC%2BD3MXjvFSitL8%3D 11384574
    • Shroyer NF, Lewis RA, Lupski JR. Analysis of the ABCR (ABCA4) gene in 4-aminoquinoline retinopathy: is retinal toxicity by chloroquine and hydroxychloroquine related to Stargardt disease? Am J Ophthalmol. 2001;131:761-6.
    • (2001) Am J Ophthalmol , vol.131 , pp. 761-766
    • Shroyer, N.F.1    Lewis, R.A.2    Lupski, J.R.3
  • 9
    • 0031037951 scopus 로고    scopus 로고
    • A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy
    • 1:CAS:528:DyaK2sXhsVGmsL0%3D 9054934
    • Allikmets R, Singh N, Sun H, Shroyer NF, Hutchinson A, Chidambaram A, et al. A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy. Nat Genet. 1997;15:236-46.
    • (1997) Nat Genet , vol.15 , pp. 236-246
    • Allikmets, R.1    Singh, N.2    Sun, H.3    Shroyer, N.F.4    Hutchinson, A.5    Chidambaram, A.6
  • 10
    • 0012119330 scopus 로고    scopus 로고
    • Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration
    • 1:CAS:528:DyaK2sXmtFGhtL0%3D 9295268
    • Allikmets R, Shroyer NF, Singh N, Seddon JM, Lewis RA, Bernstein PS, et al. Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration. Science. 1997;277:1805-7.
    • (1997) Science , vol.277 , pp. 1805-1807
    • Allikmets, R.1    Shroyer, N.F.2    Singh, N.3    Seddon, J.M.4    Lewis, R.A.5    Bernstein, P.S.6
  • 12
    • 67349126591 scopus 로고    scopus 로고
    • G1961E mutant allele in the Stargardt disease gene ABCA4 causes bull's eye maculopathy
    • 1:CAS:528:DC%2BD1MXms1yjsro%3D 19217903
    • Cella W, Greenstein VC, Zernant-Rajang J, Smith TR, Barile G, Allikmets R, et al. G1961E mutant allele in the Stargardt disease gene ABCA4 causes bull's eye maculopathy. Exp Eye Res. 2009;89:16-24.
    • (2009) Exp Eye Res , vol.89 , pp. 16-24
    • Cella, W.1    Greenstein, V.C.2    Zernant-Rajang, J.3    Smith, T.R.4    Barile, G.5    Allikmets, R.6
  • 13
    • 36749074541 scopus 로고    scopus 로고
    • ABCA4 mutations and discordant ABCA4 alleles in patients and siblings with bull's-eye maculopathy
    • 1:STN:280:DC%2BD2snovFWmuw%3D%3D 18024811
    • Michaelides M, Chen LL, Brantley MA, Andorf JL, Isaak EM, Jenkins SA, et al. ABCA4 mutations and discordant ABCA4 alleles in patients and siblings with bull's-eye maculopathy. Br J Ophthalmol. 2007;91:1650-5.
    • (2007) Br J Ophthalmol , vol.91 , pp. 1650-1655
    • Michaelides, M.1    Chen, L.L.2    Brantley, M.A.3    Andorf, J.L.4    Isaak, E.M.5    Jenkins, S.A.6
  • 14
    • 1842866266 scopus 로고    scopus 로고
    • Chloroquine causes lysosomal dysfunction in neural retina and RPE: Implications for retinopathy
    • 1:CAS:528:DC%2BD2cXhtVCgsbjP 15259297
    • Mahon GJ, Anderson HR, Gardiner TA, McFarlane S, Archer DB, Stitt AW. Chloroquine causes lysosomal dysfunction in neural retina and RPE: implications for retinopathy. Curr Eye Res. 2004;28:277-84.
    • (2004) Curr Eye Res , vol.28 , pp. 277-284
    • Mahon, G.J.1    Anderson, H.R.2    Gardiner, T.A.3    McFarlane, S.4    Archer, D.B.5    Stitt, A.W.6
  • 15
    • 0036334069 scopus 로고    scopus 로고
    • Different effects of chloroquine and hydroxychloroquine on lysosomal function in cultured retinal pigment epithelial cells
    • 1:CAS:528:DC%2BD38XmslOlurs%3D 12193209
    • Sundelin SP, Terman A. Different effects of chloroquine and hydroxychloroquine on lysosomal function in cultured retinal pigment epithelial cells. APMIS. 2002;110:481-9.
    • (2002) APMIS , vol.110 , pp. 481-489
    • Sundelin, S.P.1    Terman, A.2
  • 17
    • 53149096200 scopus 로고    scopus 로고
    • Accelerated accumulation of lipofuscin pigments in the RPE of a mouse model for ABCA4-mediated retinal dystrophies following Vitamin A supplementation
    • Radu RA, Yuan Q, Hu J, Peng JH, Lloyd M, Nusinowitz S, et al. Accelerated accumulation of lipofuscin pigments in the RPE of a mouse model for ABCA4-mediated retinal dystrophies following Vitamin A supplementation. Invest Ophthalmol Vis Sci. 2008;49:3821-9.
    • (2008) Invest Ophthalmol Vis Sci , vol.49 , pp. 3821-3829
    • Radu, R.A.1    Yuan, Q.2    Hu, J.3    Peng, J.H.4    Lloyd, M.5    Nusinowitz, S.6
  • 18
    • 84861610792 scopus 로고    scopus 로고
    • Modelling the genetic risk in age-related macular degeneration
    • 1:CAS:528:DC%2BC38Xot12qtrY%3D 22666427
    • Grassmann F, Fritsche LG, Keilhauer CN, Heid IM, Weber BHF. Modelling the genetic risk in age-related macular degeneration. PLoS One. 2012;7:e37979.
    • (2012) PLoS One , vol.7 , pp. 37979
    • Grassmann, F.1    Fritsche, L.G.2    Keilhauer, C.N.3    Heid, I.M.4    Weber, B.H.F.5
  • 20
    • 80051499915 scopus 로고    scopus 로고
    • Rare-variant association testing for sequencing data with the sequence kernel association test
    • 1:CAS:528:DC%2BC3MXovF2mtLc%3D 21737059
    • Wu MC, Lee S, Cai T, Li Y, Boehnke M, Lin X. Rare-variant association testing for sequencing data with the sequence kernel association test. Am J Hum Genet. 2011;89:82-93.
    • (2011) Am J Hum Genet , vol.89 , pp. 82-93
    • Wu, M.C.1    Lee, S.2    Cai, T.3    Li, Y.4    Boehnke, M.5    Lin, X.6
  • 21
    • 0002178053 scopus 로고
    • Bias reduction of maximum likelihood estimates
    • Firth D. Bias reduction of maximum likelihood estimates. Biometrika. 1993;80:27-38.
    • (1993) Biometrika , vol.80 , pp. 27-38
    • Firth, D.1
  • 23
    • 0035733108 scopus 로고    scopus 로고
    • The control of the false discovery rate in multiple testing under dependency
    • Yekutieli D, Benjamini Y. The control of the false discovery rate in multiple testing under dependency. Ann Stat. 2001;29:1165-88.
    • (2001) Ann Stat , vol.29 , pp. 1165-1188
    • Yekutieli, D.1    Benjamini, Y.2
  • 24
    • 0345346377 scopus 로고    scopus 로고
    • Codon usage tabulated from international DNA sequence databases: Status for the year 2000
    • 1:CAS:528:DC%2BD3cXhvVKjtLk%3D 10592250
    • Nakamura Y, Gojobori T, Ikemura T. Codon usage tabulated from international DNA sequence databases: status for the year 2000. Nucleic Acids Res. 2000;28:292.
    • (2000) Nucleic Acids Res , vol.28 , pp. 292
    • Nakamura, Y.1    Gojobori, T.2    Ikemura, T.3
  • 25
    • 20244380171 scopus 로고    scopus 로고
    • Complement factor H polymorphism in age-related macular degeneration
    • 1:CAS:528:DC%2BD2MXjtFOntLs%3D 15761122
    • Klein RJ, Zeiss C, Chew EY, Tsai J, Sackler RS, Haynes C, et al. Complement factor H polymorphism in age-related macular degeneration. Science. 2005;308:385-9.
    • (2005) Science , vol.308 , pp. 385-389
    • Klein, R.J.1    Zeiss, C.2    Chew, E.Y.3    Tsai, J.4    Sackler, R.S.5    Haynes, C.6
  • 26
    • 67650264293 scopus 로고    scopus 로고
    • The price of silent mutations
    • 1:CAS:528:DC%2BD1MXms1Srsb8%3D 19485088
    • Chamary JV, Hurst LD. The price of silent mutations. Sci Am. 2009;300:46-53.
    • (2009) Sci Am , vol.300 , pp. 46-53
    • Chamary, J.V.1    Hurst, L.D.2
  • 27
    • 31144465926 scopus 로고    scopus 로고
    • Hearing silence: Non-neutral evolution at synonymous sites in mammals
    • 1:CAS:528:DC%2BD28XkvFOisA%3D%3D 16418745
    • Chamary JV, Parmley JL, Hurst LD. Hearing silence: non-neutral evolution at synonymous sites in mammals. Nat Rev Genet. 2006;7:98-108.
    • (2006) Nat Rev Genet , vol.7 , pp. 98-108
    • Chamary, J.V.1    Parmley, J.L.2    Hurst, L.D.3
  • 28
    • 79952134938 scopus 로고    scopus 로고
    • A synonymous variant in IRGM alters a binding site for miR-196 and causes deregulation of IRGM-dependent xenophagy in Crohn's disease
    • 1:CAS:528:DC%2BC3MXht12msL4%3D 21278745
    • Brest P, Lapaquette P, Souidi M, Lebrigand K, Cesaro A, Vouret-Craviari V, et al. A synonymous variant in IRGM alters a binding site for miR-196 and causes deregulation of IRGM-dependent xenophagy in Crohn's disease. Nat Genet. 2011;43:242-5.
    • (2011) Nat Genet , vol.43 , pp. 242-245
    • Brest, P.1    Lapaquette, P.2    Souidi, M.3    Lebrigand, K.4    Cesaro, A.5    Vouret-Craviari, V.6
  • 29
    • 0037320652 scopus 로고    scopus 로고
    • Synonymous mutations in the human dopamine receptor D2 (DRD2) affect mRNA stability and synthesis of the receptor
    • 1:CAS:528:DC%2BD3sXitVWqtr8%3D 12554675
    • Duan J, Wainwright MS, Comeron JM, Saitou N, Sanders AR, Gelernter J, et al. Synonymous mutations in the human dopamine receptor D2 (DRD2) affect mRNA stability and synthesis of the receptor. Hum Mol Genet. 2003;12:205-16.
    • (2003) Hum Mol Genet , vol.12 , pp. 205-216
    • Duan, J.1    Wainwright, M.S.2    Comeron, J.M.3    Saitou, N.4    Sanders, A.R.5    Gelernter, J.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.