메뉴 건너뛰기




Volumn 6, Issue 1, 2012, Pages

Genetic mechanisms and age-related macular degeneration: Common variants, rare variants, copy number variations, epigenetics, and mitochondrial genetics

Author keywords

Age related macular degeneration; Copy number variation; Epigenetics; Genetics; Mitochondria

Indexed keywords

GENOMIC DNA; GLUTATHIONE TRANSFERASE; MICRORNA; MITOCHONDRIAL DNA;

EID: 84873333444     PISSN: 14739542     EISSN: 14797364     Source Type: Journal    
DOI: 10.1186/1479-7364-6-13     Document Type: Review
Times cited : (60)

References (93)
  • 1
    • 33751103471 scopus 로고    scopus 로고
    • Age-related macular degeneration-emerging pathogenetic and therapeutic concepts
    • Gehrs KM, Anderson DH, Johnson LV, Hageman GS: Age-related macular degeneration-emerging pathogenetic and therapeutic concepts. Ann Med 2006, 38:450-471.
    • (2006) Ann Med , vol.38 , pp. 450-471
    • Gehrs, K.M.1    Anderson, D.H.2    Johnson, L.V.3    Hageman, G.S.4
  • 3
    • 0034832029 scopus 로고    scopus 로고
    • An integrated hypothesis that considers drusen as biomarkers of immune-mediated processes at the RPE-Bruch's membrane interface in aging and age-related macular degeneration
    • Hageman GS, Luthert PJ, Chong VNH, Johnson LV, Anderson DH, Mullins RF: An integrated hypothesis that considers drusen as biomarkers of immune-mediated processes at the RPE-Bruch's membrane interface in aging and age-related macular degeneration. Prog Retin Eye Res 2001, 20:705-732.
    • (2001) Prog Retin Eye Res , vol.20 , pp. 705-732
    • Hageman, G.S.1    Luthert, P.J.2    Chong, V.N.H.3    Johnson, L.V.4    Anderson, D.H.5    Mullins, R.F.6
  • 4
    • 0033520641 scopus 로고    scopus 로고
    • Histopathology of age-related macular degeneration
    • Green WR: Histopathology of age-related macular degeneration. Mol Vis 1999, 5:27.
    • (1999) Mol Vis , vol.5 , pp. 27
    • Green, W.R.1
  • 7
    • 59849104241 scopus 로고    scopus 로고
    • Molecular pathology of age-related macular degeneration
    • Ding X, Patel M, Chan CC: Molecular pathology of age-related macular degeneration. Prog Retin Eye Res 2009, 28:1-18.
    • (2009) Prog Retin Eye Res , vol.28 , pp. 1-18
    • Ding, X.1    Patel, M.2    Chan, C.C.3
  • 9
    • 79957604976 scopus 로고    scopus 로고
    • Genetics of age-related macular degeneration: Current concepts future directions
    • Deangelis MM, Silveira AC, Carr EA, Kim IK: Genetics of age-related macular degeneration: current concepts future directions. Semin Ophthalmol 2011, 26:77-93.
    • (2011) Semin Ophthalmol , vol.26 , pp. 77-93
    • Deangelis, M.M.1    Silveira, A.C.2    Carr, E.A.3    Kim, I.K.4
  • 10
    • 77951916610 scopus 로고    scopus 로고
    • The molecular genetic basis of age-related macular degeneration: An overview
    • Katta S, Kaur I, Chakrabarti S: The molecular genetic basis of age-related macular degeneration: an overview. J Genet 2009, 88:425-449.
    • (2009) J Genet , vol.88 , pp. 425-449
    • Katta, S.1    Kaur, I.2    Chakrabarti, S.3
  • 11
    • 45449085894 scopus 로고    scopus 로고
    • Age-related macular degeneration: A perspective on genetic studies
    • Patel N, Adewoyin T, Chong NV: Age-related macular degeneration: a perspective on genetic studies. Eye (Lond) 2008, 22:768-776.
    • (2008) Eye (Lond) , vol.22 , pp. 768-776
    • Patel, N.1    Adewoyin, T.2    Chong, N.V.3
  • 12
    • 38449106206 scopus 로고    scopus 로고
    • Genetic susceptibility to age-related macular degeneration: A paradigm for dissecting complex disease traits
    • Swaroop A, Branham KE, Chen W, Abecasis G: Genetic susceptibility to age-related macular degeneration: a paradigm for dissecting complex disease traits. Hum Mol Genet 2007, 16(2):R174-R182.
    • (2007) Hum Mol Genet , vol.16 , Issue.2
    • Swaroop, A.1    Branham, K.E.2    Chen, W.3    Abecasis, G.4
  • 16
  • 17
    • 9444220221 scopus 로고    scopus 로고
    • The involvement of sequence variation and expression of CX3CR1 in the pathogenesis of age-related macular degeneration
    • Tuo J, Smith BC, Bojanowski CM, Meleth AD, Gery I, Csaky KG, Chew EY, Chan CC: The involvement of sequence variation and expression of CX3CR1 in the pathogenesis of age-related macular degeneration. FASEB J 2004, 18:1297-1299.
    • (2004) FASEB J , vol.18 , pp. 1297-1299
    • Tuo, J.1    Smith, B.C.2    Bojanowski, C.M.3    Meleth, A.D.4    Gery, I.5    Csaky, K.G.6    Chew, E.Y.7    Chan, C.C.8
  • 23
    • 2442649319 scopus 로고    scopus 로고
    • The epsilon2 and epsilon4 alleles of the apolipoprotein gene are associated with age-related macular degeneration
    • Baird PN, Guida E, Chu DT, Vu HT, Guymer RH: The epsilon2 and epsilon4 alleles of the apolipoprotein gene are associated with age-related macular degeneration. Invest Ophthalmol Vis Sci 2004, 45:1311-1315.
    • (2004) Invest Ophthalmol Vis Sci , vol.45 , pp. 1311-1315
    • Baird, P.N.1    Guida, E.2    Chu, D.T.3    Vu, H.T.4    Guymer, R.H.5
  • 31
    • 0029004025 scopus 로고
    • Vascular permeability factor/vascular endothelial growth factor, microvascular hyperpermeability, and angiogenesis
    • Dvorak HF, Brown LF, Detmar M, Dvorak AM: Vascular permeability factor/vascular endothelial growth factor, microvascular hyperpermeability, and angiogenesis. Am J Pathol 1995, 146:1029-1039.
    • (1995) Am J Pathol , vol.146 , pp. 1029-1039
    • Dvorak, H.F.1    Brown, L.F.2    Detmar, M.3    Dvorak, A.M.4
  • 34
    • 77949652757 scopus 로고    scopus 로고
    • Genetic profile for five common variants associated with age-related macular degeneration in densely affected families: A novel analytic approach
    • Sobrin L, Maller JB, Neale BM, Reynolds RC, Fagerness JA, Daly MJ, Seddon JM: Genetic profile for five common variants associated with age-related macular degeneration in densely affected families: a novel analytic approach. Eur J Hum Genet 2010, 18:496-501.
    • (2010) Eur J Hum Genet , vol.18 , pp. 496-501
    • Sobrin, L.1    Maller, J.B.2    Neale, B.M.3    Reynolds, R.C.4    Fagerness, J.A.5    Daly, M.J.6    Seddon, J.M.7
  • 40
    • 62549134411 scopus 로고    scopus 로고
    • Mechanisms for human genomic rearrangements
    • Gu W, Zhang F, Lupski JR: Mechanisms for human genomic rearrangements. Pathogenetics 2008, 1:4.
    • (2008) Pathogenetics , vol.1 , pp. 4
    • Gu, W.1    Zhang, F.2    Lupski, J.R.3
  • 41
    • 34547664096 scopus 로고    scopus 로고
    • Genomic disorders: Molecular mechanisms for rearrangements and conveyed phenotypes
    • Lupski JR, Stankiewicz P: Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes. PLoS Genet 2005, 1:e49.
    • (2005) PLoS Genet , vol.1
    • Lupski, J.R.1    Stankiewicz, P.2
  • 42
    • 77950121267 scopus 로고    scopus 로고
    • Gene copy number variation and common human disease
    • Fanciulli M, Petretto E, Aitman TJ: Gene copy number variation and common human disease. Clin Genet 2010, 77:201-213.
    • (2010) Clin Genet , vol.77 , pp. 201-213
    • Fanciulli, M.1    Petretto, E.2    Aitman, T.J.3
  • 44
    • 78651239869 scopus 로고    scopus 로고
    • CCL3L1 copy number variation and susceptibility to HIV-1 infection: A meta-analysis
    • Liu S, Yao L, Ding D, Zhu H: CCL3L1 copy number variation and susceptibility to HIV-1 infection: a meta-analysis. PLoS One 2010, 5:e15778.
    • (2010) PLoS One , vol.5
    • Liu, S.1    Yao, L.2    Ding, D.3    Zhu, H.4
  • 45
    • 62549101646 scopus 로고    scopus 로고
    • Copy number variants in genetic susceptibility and severity of systemic lupus erythematosus
    • Ptacek T, Li X, Kelley JM, Edberg JC: Copy number variants in genetic susceptibility and severity of systemic lupus erythematosus. Cytogenet Genome Res 2008, 123:142-147.
    • (2008) Cytogenet Genome Res , vol.123 , pp. 142-147
    • Ptacek, T.1    Li, X.2    Kelley, J.M.3    Edberg, J.C.4
  • 48
    • 33749123246 scopus 로고    scopus 로고
    • A common CFH haplotype with deletion of CFHR1 and CFHR3, is associated with lower risk of age-related macular degeneration
    • Hughes AE, Orr N, Esfandiary H, Diaz-Torres M, Goodship T, Chakravarthy U: A common CFH haplotype with deletion of CFHR1 and CFHR3, is associated with lower risk of age-related macular degeneration. Nat Genet 2006, 38:1173-1177.
    • (2006) Nat Genet , vol.38 , pp. 1173-1177
    • Hughes, A.E.1    Orr, N.2    Esfandiary, H.3    Diaz-Torres, M.4    Goodship, T.5    Chakravarthy, U.6
  • 52
    • 82755182788 scopus 로고    scopus 로고
    • Association assessment of copy number polymorphism and risk of age-related macular degeneration
    • Sawitzke J, Im KM, Kostiha B, Dean M, Gold B: Association assessment of copy number polymorphism and risk of age-related macular degeneration. Ophthalmology 2011, 118:2442-2446.
    • (2011) Ophthalmology , vol.118 , pp. 2442-2446
    • Sawitzke, J.1    Im, K.M.2    Kostiha, B.3    Dean, M.4    Gold, B.5
  • 54
    • 33746474688 scopus 로고    scopus 로고
    • Glutathione transferases in the genomics era: New insights and perspectives
    • Frova C: Glutathione transferases in the genomics era: new insights and perspectives. Biomol Eng 2006, 23:149-169.
    • (2006) Biomol Eng , vol.23 , pp. 149-169
    • Frova, C.1
  • 56
    • 77955896926 scopus 로고    scopus 로고
    • The association between copy number variations in glutathione S-transferase M1 and T1 and age-related cataract in a Han Chinese population
    • Zhou J, Hu J, Guan H: The association between copy number variations in glutathione S-transferase M1 and T1 and age-related cataract in a Han Chinese population. Invest Ophthalmol Vis Sci 2010, 51:3924-3928.
    • (2010) Invest Ophthalmol Vis Sci , vol.51 , pp. 3924-3928
    • Zhou, J.1    Hu, J.2    Guan, H.3
  • 57
    • 4143132283 scopus 로고    scopus 로고
    • Possible gene dosage effect of glutathione-S-transferases on atopic asthma: Using real-time PCR for quantification of GSTM1 and GSTT1 gene copy numbers
    • Brasch-Andersen C, Christiansen L, Tan Q, Haagerup A, Vestbo J, Kruse TA: Possible gene dosage effect of glutathione-S-transferases on atopic asthma: using real-time PCR for quantification of GSTM1 and GSTT1 gene copy numbers. Hum Mutat 2004, 24:208-214.
    • (2004) Hum Mutat , vol.24 , pp. 208-214
    • Brasch-Andersen, C.1    Christiansen, L.2    Tan, Q.3    Haagerup, A.4    Vestbo, J.5    Kruse, T.A.6
  • 58
    • 33645538395 scopus 로고    scopus 로고
    • Glutathione Stransferase M1, T1, and P1 gene polymorphism in exudative age-related macular degeneration: A preliminary report
    • Oz O, Aras Ates N, Tamer L, Yildirim O, Adiguzel U: Glutathione Stransferase M1, T1, and P1 gene polymorphism in exudative age-related macular degeneration: a preliminary report. Eur J Ophthalmol 2006, 16:105-110.
    • (2006) Eur J Ophthalmol , vol.16 , pp. 105-110
    • Oz, O.1    Aras Ates, N.2    Tamer, L.3    Yildirim, O.4    Adiguzel, U.5
  • 60
    • 0034533059 scopus 로고    scopus 로고
    • Genetic association of manganese superoxide dismutase with exudative agerelated macular degeneration
    • Kimura K, Isashiki Y, Sonoda S, Kakiuchi-Matsumoto T, Ohba N: Genetic association of manganese superoxide dismutase with exudative agerelated macular degeneration. Am J Ophthalmol 2000, 130:769-773.
    • (2000) Am J Ophthalmol , vol.130 , pp. 769-773
    • Kimura, K.1    Isashiki, Y.2    Sonoda, S.3    Kakiuchi-Matsumoto, T.4    Ohba, N.5
  • 63
    • 21644482231 scopus 로고    scopus 로고
    • Detection of CX3CR1 single nucleotide polymorphism and expression on archived eyes with age-related macular degeneration
    • Chan CC, Tuo J, Bojanowski CM, Csaky KG, Green WR: Detection of CX3CR1 single nucleotide polymorphism and expression on archived eyes with age-related macular degeneration. Histol Histopathol 2005, 20:857-863.
    • (2005) Histol Histopathol , vol.20 , pp. 857-863
    • Chan, C.C.1    Tuo, J.2    Bojanowski, C.M.3    Csaky, K.G.4    Green, W.R.5
  • 65
    • 22844457491 scopus 로고    scopus 로고
    • DNA methylation and human disease
    • Robertson KD: DNA methylation and human disease. Nat Rev Genet 2005, 6:597-610.
    • (2005) Nat Rev Genet , vol.6 , pp. 597-610
    • Robertson, K.D.1
  • 66
    • 33947310031 scopus 로고    scopus 로고
    • Environmental epigenomics and disease susceptibility
    • Jirtle RL, Skinner MK: Environmental epigenomics and disease susceptibility. Nat Rev Genet 2007, 8:253-262.
    • (2007) Nat Rev Genet , vol.8 , pp. 253-262
    • Jirtle, R.L.1    Skinner, M.K.2
  • 68
    • 0034800655 scopus 로고    scopus 로고
    • A randomized, placebocontrolled, clinical trial of high-dose supplementation with vitamins C and E, beta carotene, and zinc for age-related macular degeneration and vision loss: AREDS report no. 8
    • Age-Related Eye Disease Study Research Group
    • Age-Related Eye Disease Study Research Group: A randomized, placebocontrolled, clinical trial of high-dose supplementation with vitamins C and E, beta carotene, and zinc for age-related macular degeneration and vision loss: AREDS report no. 8. Arch Ophthalmol 2001, 119:1417-1436.
    • (2001) Arch Ophthalmol , vol.119 , pp. 1417-1436
  • 69
    • 79957585321 scopus 로고    scopus 로고
    • Nutritional supplementation and age-related macular degeneration
    • Olson JH, Erie JC, Bakri SJ: Nutritional supplementation and age-related macular degeneration. Semin Ophthalmol 2011, 26:131-136.
    • (2011) Semin Ophthalmol , vol.26 , pp. 131-136
    • Olson, J.H.1    Erie, J.C.2    Bakri, S.J.3
  • 70
    • 79959966019 scopus 로고    scopus 로고
    • Smoking, dietary betaine, methionine, and vitamin d in monozygotic twins with discordant macular degeneration: Epigenetic implications
    • Seddon JM, Reynolds R, Shah HR, Rosner B: Smoking, dietary betaine, methionine, and vitamin d in monozygotic twins with discordant macular degeneration: epigenetic implications. Ophthalmology 2011, 118:1386-1394.
    • (2011) Ophthalmology , vol.118 , pp. 1386-1394
    • Seddon, J.M.1    Reynolds, R.2    Shah, H.R.3    Rosner, B.4
  • 71
    • 18344369543 scopus 로고    scopus 로고
    • MicroRNA biogenesis: Coordinated cropping and dicing
    • Kim VN: MicroRNA biogenesis: coordinated cropping and dicing. Nat Rev Mol Cell Biol 2005, 6:376-385.
    • (2005) Nat Rev Mol Cell Biol , vol.6 , pp. 376-385
    • Kim, V.N.1
  • 72
    • 11844278458 scopus 로고    scopus 로고
    • Conserved seed pairing, often flanked by adenosines, indicates that thousands of human genes are microRNA targets
    • Lewis BP, Burge CB, Bartel DP: Conserved seed pairing, often flanked by adenosines, indicates that thousands of human genes are microRNA targets. Cell 2005, 120:15-20.
    • (2005) Cell , vol.120 , pp. 15-20
    • Lewis, B.P.1    Burge, C.B.2    Bartel, D.P.3
  • 73
    • 77957361864 scopus 로고    scopus 로고
    • Targeting microRNAs in cancer: Rationale, strategies and challenges
    • Garzon R, Marcucci G, Croce CM: Targeting microRNAs in cancer: rationale, strategies and challenges. Nat Rev Drug Discov 2010, 9:775-789.
    • (2010) Nat Rev Drug Discov , vol.9 , pp. 775-789
    • Garzon, R.1    Marcucci, G.2    Croce, C.M.3
  • 74
    • 75649139134 scopus 로고    scopus 로고
    • Physiological and pathological roles for microRNAs in the immune system
    • O'Connell RM, Rao DS, Chaudhuri AA, Baltimore D: Physiological and pathological roles for microRNAs in the immune system. Nat Rev Immunol 2010, 10:111-122.
    • (2010) Nat Rev Immunol , vol.10 , pp. 111-122
    • O'Connell, R.M.1    Rao, D.S.2    Chaudhuri, A.A.3    Baltimore, D.4
  • 75
    • 84863247480 scopus 로고    scopus 로고
    • MiRNAs as potential therapeutic targets for age-related macular degeneration
    • Wang S, Koster KM, He Y, Zhou Q: miRNAs as potential therapeutic targets for age-related macular degeneration. Future Med Chem 2012, 4:277-287.
    • (2012) Future Med Chem , vol.4 , pp. 277-287
    • Wang, S.1    Koster, K.M.2    He, Y.3    Zhou, Q.4
  • 76
    • 84859702614 scopus 로고    scopus 로고
    • Common micro RNAs (miRNAs) target complement factor H (CFH) regulation in Alzheimer's disease (AD) and in age-related macular degeneration (AMD)
    • Lukiw WJ, Surjyadipta B, Dua P, Alexandrov PN: Common micro RNAs (miRNAs) target complement factor H (CFH) regulation in Alzheimer's disease (AD) and in age-related macular degeneration (AMD). Int J Biochem Mol Biol 2012, 3:105-116.
    • (2012) Int J Biochem Mol Biol , vol.3 , pp. 105-116
    • Lukiw, W.J.1    Surjyadipta, B.2    Dua, P.3    Alexandrov, P.N.4
  • 79
    • 79957783544 scopus 로고    scopus 로고
    • Regulation of angiogenesis and choroidal neovascularization by members of microRNA-23 27 24 clusters
    • Zhou Q, Gallagher R, Ufret-Vincenty R, Li X, Olson EN, Wang S: Regulation of angiogenesis and choroidal neovascularization by members of microRNA-23 27 24 clusters. Proc Natl Acad Sci U S A 2011, 108:8287-8292.
    • (2011) Proc Natl Acad Sci U S A , vol.108 , pp. 8287-8292
    • Zhou, Q.1    Gallagher, R.2    Ufret-Vincenty, R.3    Li, X.4    Olson, E.N.5    Wang, S.6
  • 81
    • 0033795036 scopus 로고    scopus 로고
    • The role of oxidative stress in the pathogenesis of age-related macular degeneration
    • Beatty S, Koh H, Phil M, Henson D, Boulton M: The role of oxidative stress in the pathogenesis of age-related macular degeneration. Surv Ophthalmol 2000, 45:115-134.
    • (2000) Surv Ophthalmol , vol.45 , pp. 115-134
    • Beatty, S.1    Koh, H.2    Phil, M.3    Henson, D.4    Boulton, M.5
  • 82
    • 79955000184 scopus 로고    scopus 로고
    • DNA damage and repair in age-related macular degeneration
    • Blasiak J, Szaflik JP: DNA damage and repair in age-related macular degeneration. Front Biosci 2011, 16:1291-1301.
    • (2011) Front Biosci , vol.16 , pp. 1291-1301
    • Blasiak, J.1    Szaflik, J.P.2
  • 83
    • 55649114157 scopus 로고    scopus 로고
    • Mitochondrial DNA damage and its potential role in retinal degeneration
    • Jarrett SG, Lin H, Godley BF, Boulton ME: Mitochondrial DNA damage and its potential role in retinal degeneration. Prog Retin Eye Res 2008, 27:596-607.
    • (2008) Prog Retin Eye Res , vol.27 , pp. 596-607
    • Jarrett, S.G.1    Lin, H.2    Godley, B.F.3    Boulton, M.E.4
  • 84
    • 77953348161 scopus 로고    scopus 로고
    • Mitochondrial DNA repair and association with aging-an update
    • Gredilla R, Bohr VA, Stevnsner T: Mitochondrial DNA repair and association with aging-an update. Exp Gerontol 2010, 45:478-488.
    • (2010) Exp Gerontol , vol.45 , pp. 478-488
    • Gredilla, R.1    Bohr, V.A.2    Stevnsner, T.3
  • 85
    • 41949092130 scopus 로고    scopus 로고
    • Increased mitochondrial DNA damage and down-regulation of DNA repair enzymes in aged rodent retinal pigment epithelium and choroid
    • Wang AL, Lukas TJ, Yuan M, Neufeld AH: Increased mitochondrial DNA damage and down-regulation of DNA repair enzymes in aged rodent retinal pigment epithelium and choroid. Mol Vis 2008, 14:644-651.
    • (2008) Mol Vis , vol.14 , pp. 644-651
    • Wang, A.L.1    Lukas, T.J.2    Yuan, M.3    Neufeld, A.H.4
  • 86
    • 0037375044 scopus 로고    scopus 로고
    • Oxidative stress-induced mitochondrial DNA damage in human retinal pigment epithelial cells: A possible mechanism for RPE aging and age-related macular degeneration
    • Liang FQ, Godley BF: Oxidative stress-induced mitochondrial DNA damage in human retinal pigment epithelial cells: a possible mechanism for RPE aging and age-related macular degeneration. Exp Eye Res 2003, 76:397-403.
    • (2003) Exp Eye Res , vol.76 , pp. 397-403
    • Liang, F.Q.1    Godley, B.F.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.