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Volumn 54, Issue 2, 2013, Pages 932-938

Copy number variations of DNA repair genes and the age-related cataract: Jiangsu eye study

Author keywords

[No Author keywords available]

Indexed keywords

HEAT SHOCK TRANSCRIPTION FACTOR 1; WERNER SYNDROME PROTEIN;

EID: 84873350054     PISSN: 01460404     EISSN: 15525783     Source Type: Journal    
DOI: 10.1167/iovs.12-10948     Document Type: Article
Times cited : (23)

References (51)
  • 1
    • 0035088540 scopus 로고    scopus 로고
    • Cataract blindness-challenges for the 21st century
    • Brian G, Taylor H. Cataract blindness-challenges for the 21st century. Bull World Health Organ. 2001;79:249-256.
    • (2001) Bull World Health Organ. , vol.79 , pp. 249-256
    • Brian, G.1    Taylor, H.2
  • 2
    • 0142088514 scopus 로고    scopus 로고
    • Important causes of visual impairment in the world today
    • Congdon NG, Friedman DS, Lietman T. Important causes of visual impairment in the world today. JAMA. 2003;290:2057-2060.
    • (2003) JAMA. , vol.290 , pp. 2057-2060
    • Congdon, N.G.1    Friedman, D.S.2    Lietman, T.3
  • 4
    • 0026514839 scopus 로고
    • Prevalence of age-related lens opacities in a population. The Beaver Dam Eye Study
    • Klein BE, Klein R, Linton KL. Prevalence of age-related lens opacities in a population. The Beaver Dam Eye Study. Ophthalmology. 1992;99:546-552.
    • (1992) Ophthalmology. , vol.99 , pp. 546-552
    • Klein, B.E.1    Klein, R.2    Linton, K.L.3
  • 5
    • 34548815236 scopus 로고    scopus 로고
    • Localization of autosomal recessive congenital cataracts in consanguineous Pakistani families to a new locus on chromosome 1p
    • Butt T, Yao W, Kaul H, et al. Localization of autosomal recessive congenital cataracts in consanguineous Pakistani families to a new locus on chromosome 1p. Mol Vis. 2007;13:1635-1640.
    • (2007) Mol Vis. , vol.13 , pp. 1635-1640
    • Butt, T.1    Yao, W.2    Kaul, H.3
  • 7
    • 18044388716 scopus 로고    scopus 로고
    • Age-related nuclear cataract-oxidation is the key
    • Truscott RJ. Age-related nuclear cataract-oxidation is the key. Exp Eye Res. 2005;80:709-725.
    • (2005) Exp Eye Res. , vol.80 , pp. 709-725
    • Truscott, R.J.1
  • 8
    • 33644805176 scopus 로고    scopus 로고
    • Accumulation of DNA, nuclear and mitochondrial debris, and ROS at sites of age-related cortical cataract in mice
    • Pendergrass W, Penn P, Possin D, Wolf N. Accumulation of DNA, nuclear and mitochondrial debris, and ROS at sites of age-related cortical cataract in mice. Invest Ophthalmol Vis Sci. 2005;46:4661-4670.
    • (2005) Invest Ophthalmol Vis Sci. , vol.46 , pp. 4661-4670
    • Pendergrass, W.1    Penn, P.2    Possin, D.3    Wolf, N.4
  • 9
    • 77956958964 scopus 로고    scopus 로고
    • Expression changes in DNA repair enzymes and mitochondrial DNA damage in aging rat lens
    • Zhang Y, Zhang L, Bai J, Ge H, Liu P. Expression changes in DNA repair enzymes and mitochondrial DNA damage in aging rat lens. Mol Vis. 2010;16:1754-1763.
    • (2010) Mol Vis. , vol.16 , pp. 1754-1763
    • Zhang, Y.1    Zhang, L.2    Bai, J.3    Ge, H.4    Liu, P.5
  • 12
    • 0037288784 scopus 로고    scopus 로고
    • Polymorphisms in the DNA repair gene XRCC1 and age-related disease
    • Ladiges W, Wiley J, MacAuley A. Polymorphisms in the DNA repair gene XRCC1 and age-related disease. Mech Ageing Dev. 2003;124:27-32.
    • (2003) Mech Ageing Dev. , vol.124 , pp. 27-32
    • Ladiges, W.1    Wiley, J.2    McAuley, A.3
  • 13
    • 24944471391 scopus 로고    scopus 로고
    • Polymorphisms in the human XPD (ERCC2) gene, DNA repair capacity and cancer susceptibility: An appraisal
    • Clarkson SG, Wood RD. Polymorphisms in the human XPD (ERCC2) gene, DNA repair capacity and cancer susceptibility: an appraisal. DNA Repair (Amst). 2005;4:1068-1074.
    • (2005) DNA Repair (Amst). , vol.4 , pp. 1068-1074
    • Clarkson, S.G.1    Wood, R.D.2
  • 14
    • 79960942836 scopus 로고    scopus 로고
    • Copy number variations in candidate genes in neovascular age-related macular degeneration
    • Liu MM, Agron E, Chew E, et al. Copy number variations in candidate genes in neovascular age-related macular degeneration. Invest Ophthalmol Vis Sci. 2011;52:3129-3135.
    • (2011) Invest Ophthalmol Vis Sci. , vol.52 , pp. 3129-3135
    • Liu, M.M.1    Agron, E.2    Chew, E.3
  • 15
    • 77956953176 scopus 로고    scopus 로고
    • Lack of association of the WRN C1367T polymorphism with senile cataract in the Israeli population
    • Ehrenberg M, Dratviman-Storobinsky O, Avraham-Lubin BR, Goldenberg-Cohen N. Lack of association of the WRN C1367T polymorphism with senile cataract in the Israeli population. Mol Vis. 2010;16:1771-1775.
    • (2010) Mol Vis. , vol.16 , pp. 1771-1775
    • Ehrenberg, M.1    Dratviman-Storobinsky, O.2    Avraham-Lubin, B.R.3    Goldenberg-Cohen, N.4
  • 16
    • 84862798711 scopus 로고    scopus 로고
    • Genetic polymorphisms in DNA repair genes OGG1, APE1, XRCC1, and XPD and the risk of age-related cataract
    • Zhang Y, Zhang L, Song Z, et al. Genetic polymorphisms in DNA repair genes OGG1, APE1, XRCC1, and XPD and the risk of age-related cataract. Ophthalmology. 2012;119:900-906.
    • (2012) Ophthalmology. , vol.119 , pp. 900-906
    • Zhang, Y.1    Zhang, L.2    Song, Z.3
  • 17
    • 84863332255 scopus 로고    scopus 로고
    • Glutathione S-transferases polymorphisms confer susceptibility to senile cortical cataract in the Han Chinese population
    • Jiang Z, Liang K, Zhang Q, Tao L. Glutathione S-transferases polymorphisms confer susceptibility to senile cortical cataract in the Han Chinese population. Mol Vis. 2012;18:1247-1252.
    • (2012) Mol Vis. , vol.18 , pp. 1247-1252
    • Jiang, Z.1    Liang, K.2    Zhang, Q.3    Tao, L.4
  • 18
    • 0035679017 scopus 로고    scopus 로고
    • Heat shock proteins of adult and embryonic human ocular lenses
    • Bagchi M, Katar M, Maisel H. Heat shock proteins of adult and embryonic human ocular lenses. J Cell Biochem. 2002;84: 278-284.
    • (2002) J Cell Biochem. , vol.84 , pp. 278-284
    • Bagchi, M.1    Katar, M.2    Maisel, H.3
  • 19
    • 55349108925 scopus 로고    scopus 로고
    • Mutation screening of HSF4 in 150 agerelated cataract patients
    • Shi Y, Shi X, Jin Y, et al. Mutation screening of HSF4 in 150 agerelated cataract patients. Mol Vis. 2008;14:1850-1855.
    • (2008) Mol Vis. , vol.14 , pp. 1850-1855
    • Shi, Y.1    Shi, X.2    Jin, Y.3
  • 20
    • 84861630497 scopus 로고    scopus 로고
    • HSF4 is involved in DNA damage repair through regulation of Rad51
    • Cui X, Zhang J, Du R, et al. HSF4 is involved in DNA damage repair through regulation of Rad51. Biochim Biophys Acta. 2012;1822:1308-1315.
    • (2012) Biochim Biophys Acta. , vol.1822 , pp. 1308-1315
    • Cui, X.1    Zhang, J.2    Du, R.3
  • 21
    • 77950461601 scopus 로고    scopus 로고
    • Origins and functional impact of copy number variation in the human genome
    • Conrad DF, Pinto D, Redon R, et al. Origins and functional impact of copy number variation in the human genome. Nature. 2010;464:704-712.
    • (2010) Nature. , vol.464 , pp. 704-712
    • Conrad, D.F.1    Pinto, D.2    Redon, R.3
  • 22
    • 77955896926 scopus 로고    scopus 로고
    • The association between copy number variations in glutathione S-transferase M1 and T1 and agerelated 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 agerelated 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
  • 23
    • 77049122736 scopus 로고    scopus 로고
    • Prevalence of vision impairment in older adults in rural China: The China Nine-Province Survey
    • Zhao J, Ellwein LB, Cui H, et al. Prevalence of vision impairment in older adults in rural China: the China Nine-Province Survey. Ophthalmology. 2010;117:409-416, 416e401.
    • (2010) Ophthalmology. , vol.117
    • Zhao, J.1    Ellwein, L.B.2    Cui, H.3
  • 24
    • 0027173798 scopus 로고
    • The Lens Opacities Classification System III
    • The Longitudinal Study of Cataract Study Group
    • Chylack LT Jr, Wolfe JK, Singer DM, et al. The Lens Opacities Classification System III. The Longitudinal Study of Cataract Study Group. Arch Ophthalmol. 1993;111:831-836.
    • (1993) Arch Ophthalmol. , vol.111 , pp. 831-836
    • Chylack Jr., L.T.1    Wolfe, J.K.2    Singer, D.M.3
  • 25
    • 0027324426 scopus 로고
    • Senile cataract progression studies using the Lens Opacities Classification System II
    • Magno BV, Datiles MB III, Lasa SM. Senile cataract progression studies using the Lens Opacities Classification System II. Invest Ophthalmol Vis Sci. 1993;34:2138-2141.
    • (1993) Invest Ophthalmol Vis Sci. , vol.34 , pp. 2138-2141
    • Magno, B.V.1    Datiles III, M.B.2    Lasa, S.M.3
  • 26
    • 71149088272 scopus 로고    scopus 로고
    • DNA damage/repair and polymorphism of the hOGG1 gene in lymphocytes of AMD patients
    • Wozniak K, Szaflik JP, Zaras M, et al. DNA damage/repair and polymorphism of the hOGG1 gene in lymphocytes of AMD patients. J Biomed Biotechnol. 2009;2009:827562.
    • (2009) J Biomed Biotechnol. , vol.2009 , pp. 827562
    • Wozniak, K.1    Szaflik, J.P.2    Zaras, M.3
  • 27
    • 84856244406 scopus 로고    scopus 로고
    • Implications of gene copy-number variation in health and diseases
    • Almal SH, Padh H. Implications of gene copy-number variation in health and diseases. J Hum Genet. 2012;57:6-13.
    • (2012) J Hum Genet. , vol.57 , pp. 6-13
    • Almal, S.H.1    Padh, H.2
  • 28
    • 77958130354 scopus 로고    scopus 로고
    • Gene copy-number polymorphism in nature
    • Schrider DR, Hahn MW. Gene copy-number polymorphism in nature. Proc Biol Sci. 2010;277:3213-3221.
    • (2010) Proc Biol Sci. , vol.277 , pp. 3213-3221
    • Schrider, D.R.1    Hahn, M.W.2
  • 29
    • 34347353237 scopus 로고    scopus 로고
    • Copy-number variation and association studies of human disease
    • McCarroll SA, Altshuler DM. Copy-number variation and association studies of human disease. Nat Genet. 2007;39: S37-S42.
    • (2007) Nat Genet. , vol.39
    • McCarroll, S.A.1    Altshuler, D.M.2
  • 30
    • 84873333444 scopus 로고    scopus 로고
    • Genetic mechanisms and age-related macular degeneration: Common variants, rare variants, copy number variations, epigenetics, and mitochondrial genetics
    • Liu MM, Chan CC, Tuo J. Genetic mechanisms and age-related macular degeneration: common variants, rare variants, copy number variations, epigenetics, and mitochondrial genetics. Hum Genomics. 2012;6:13.
    • (2012) Hum Genomics. , vol.6 , pp. 13
    • Liu, M.M.1    Chan, C.C.2    Tuo, J.3
  • 31
    • 67349230444 scopus 로고    scopus 로고
    • Roles of RECQ helicases in recombination based DNA repair, genomic stability and aging
    • Singh DK, Ahn B, Bohr VA. Roles of RECQ helicases in recombination based DNA repair, genomic stability and aging. Biogerontology. 2009;10:235-252.
    • (2009) Biogerontology. , vol.10 , pp. 235-252
    • Singh, D.K.1    Ahn, B.2    Bohr, V.A.3
  • 32
    • 34447620100 scopus 로고    scopus 로고
    • Mechanisms of cardiovascular disease in accelerated aging syndromes
    • Capell BC, Collins FS, Nabel EG. Mechanisms of cardiovascular disease in accelerated aging syndromes. Circ Res. 2007;101: 13-26.
    • (2007) Circ Res. , vol.101 , pp. 13-26
    • Capell, B.C.1    Collins, F.S.2    Nabel, E.G.3
  • 33
    • 0031042238 scopus 로고    scopus 로고
    • Premature aging syndrome with osteosarcoma, cataracts, diabetes mellitus, osteoporosis, erythroid macrocytosis, severe growth and developmental deficiency
    • Okamoto N, Satomura K, Hatsukawa Y, et al. Premature aging syndrome with osteosarcoma, cataracts, diabetes mellitus, osteoporosis, erythroid macrocytosis, severe growth and developmental deficiency. Am J Med Genet. 1997;69:169-170.
    • (1997) Am J Med Genet. , vol.69 , pp. 169-170
    • Okamoto, N.1    Satomura, K.2    Hatsukawa, Y.3
  • 34
    • 34547670683 scopus 로고    scopus 로고
    • Role for the Werner syndrome protein in the promotion of tumor cell growth
    • Opresko PL, Calvo JP, von Kobbe C. Role for the Werner syndrome protein in the promotion of tumor cell growth. Mech Ageing Dev. 2007;128:423-436.
    • (2007) Mech Ageing Dev. , vol.128 , pp. 423-436
    • Opresko, P.L.1    Calvo, J.P.2    von Kobbe, C.3
  • 35
    • 58149235463 scopus 로고    scopus 로고
    • Werner syndrome, aging and cancer
    • Ozgenc A, Loeb LA. Werner syndrome, aging and cancer. Genome Dyn. 2006;1:206-217.
    • (2006) Genome Dyn. , vol.1 , pp. 206-217
    • Ozgenc, A.1    Loeb, L.A.2
  • 36
    • 70349910088 scopus 로고    scopus 로고
    • A polymorphism in Werner syndrome gene is associated with breast cancer susceptibility in Chinese women
    • Wang Z, Xu Y, Tang J, et al. A polymorphism in Werner syndrome gene is associated with breast cancer susceptibility in Chinese women. Breast Cancer Res Treat. 2009;118:169-175.
    • (2009) Breast Cancer Res Treat. , vol.118 , pp. 169-175
    • Wang, Z.1    Xu, Y.2    Tang, J.3
  • 37
    • 17044446149 scopus 로고
    • Werner's syndrome and acute myeloid leukemia
    • passim
    • Tao LC, Stecker E, Gardner HA. Werner's syndrome and acute myeloid leukemia. Can Med Assoc J. 1971;105:951 passim.
    • (1971) Can Med Assoc J. , vol.105 , pp. 951
    • Tao, L.C.1    Stecker, E.2    Gardner, H.A.3
  • 38
    • 9144260619 scopus 로고    scopus 로고
    • HSF4 is required for normal cell growth and differentiation during mouse lens development
    • Fujimoto M, Izu H, Seki K, et al. HSF4 is required for normal cell growth and differentiation during mouse lens development. EMBO J. 2004;23:4297-4306.
    • (2004) EMBO J. , vol.23 , pp. 4297-4306
    • Fujimoto, M.1    Izu, H.2    Seki, K.3
  • 39
    • 77954958972 scopus 로고    scopus 로고
    • DNA-binding and transcriptional activities of human HSF4 containing mutations that associate with congenital and age-related cataracts
    • Enoki Y, Mukoda Y, Furutani C, Sakurai H. DNA-binding and transcriptional activities of human HSF4 containing mutations that associate with congenital and age-related cataracts. Biochim Biophys Acta. 2010;1802:749-753.
    • (2010) Biochim Biophys Acta. , vol.1802 , pp. 749-753
    • Enoki, Y.1    Mukoda, Y.2    Furutani, C.3    Sakurai, H.4
  • 40
    • 0035425830 scopus 로고    scopus 로고
    • Risk of incident age-related eye diseases in people with an affected sibling: The Beaver Dam Eye Study
    • Klein BE, Klein R, Lee KE, Moore EL, Danforth L. Risk of incident age-related eye diseases in people with an affected sibling: The Beaver Dam Eye Study. Am J Epidemiol. 2001;154: 207-211.
    • (2001) Am J Epidemiol. , vol.154 , pp. 207-211
    • Klein, B.E.1    Klein, R.2    Lee, K.E.3    Moore, E.L.4    Danforth, L.5
  • 41
    • 0027932686 scopus 로고
    • Familial aggregation of lens opacities: The Framingham Eye Study and the Framingham Offspring Eye Study
    • Familial aggregation of lens opacities: the Framingham Eye Study and the Framingham Offspring Eye Study. Am J Epidemiol. 1994;140:555-564.
    • (1994) Am J Epidemiol. , vol.140 , pp. 555-564
  • 42
    • 0026099329 scopus 로고
    • The Lens Opacities Case-Control Study. Risk factors for cataract
    • Leske MC, Chylack LT Jr, Wu SY. The Lens Opacities Case-Control Study. Risk factors for cataract. Arch Ophthalmol. 1991;109:244-251.
    • (1991) Arch Ophthalmol. , vol.109 , pp. 244-251
    • Leske, M.C.1    Chylack Jr., L.T.2    Wu, S.Y.3
  • 43
    • 0025829912 scopus 로고
    • Risk factors for age-related cortical, nuclear, and posterior subcapsular cataracts.
    • The Italian-American Cataract Study Group
    • Risk factors for age-related cortical, nuclear, and posterior subcapsular cataracts. The Italian-American Cataract Study Group. Am J Epidemiol. 1991;133:541-553.
    • (1991) Am J Epidemiol. , vol.133 , pp. 541-553
  • 44
    • 0034659685 scopus 로고    scopus 로고
    • Genetic and environmental factors in age-related nuclear cataracts in monozygotic and dizygotic twins
    • Hammond CJ, Snieder H, Spector TD, Gilbert CE. Genetic and environmental factors in age-related nuclear cataracts in monozygotic and dizygotic twins. N Engl J Med. 2000;342: 1786-1790.
    • (2000) N Engl J Med. , vol.342 , pp. 1786-1790
    • Hammond, C.J.1    Snieder, H.2    Spector, T.D.3    Gilbert, C.E.4
  • 46
    • 79551556805 scopus 로고    scopus 로고
    • Prevalence of cataract in an older population in India: The India study of age-related eye disease
    • e1-e2
    • Vashist P, Talwar B, Gogoi M, et al. Prevalence of cataract in an older population in India: the India study of age-related eye disease. Ophthalmology. 2011;118:272-278, e1-e2.
    • (2011) Ophthalmology. , vol.118 , pp. 272-278
    • Vashist, P.1    Talwar, B.2    Gogoi, M.3
  • 47
    • 1842425722 scopus 로고    scopus 로고
    • Prevalence of cataract and pseudophakia/aphakia among adults in the United States
    • Congdon N, Vingerling JR, Klein BE, et al. Prevalence of cataract and pseudophakia/aphakia among adults in the United States. Arch Ophthalmol. 2004;122:487-494.
    • (2004) Arch Ophthalmol. , vol.122 , pp. 487-494
    • Congdon, N.1    Vingerling, J.R.2    Klein, B.E.3
  • 49
    • 33745132377 scopus 로고    scopus 로고
    • Synergic effect of polymorphisms in ERCC6 5' flanking region and complement factor H on age-related macular degeneration predisposition
    • Tuo J, Ning B, Bojanowski CM, et al. Synergic effect of polymorphisms in ERCC6 5' flanking region and complement factor H on age-related macular degeneration predisposition. Proc Natl Acad Sci U S A. 2006;103:9256-9261.
    • (2006) Proc Natl Acad Sci U S A. , vol.103 , pp. 9256-9261
    • Tuo, J.1    Ning, B.2    Bojanowski, C.M.3
  • 50
    • 78249244159 scopus 로고    scopus 로고
    • The ERCC6 gene and age-related macular degeneration
    • Baas DC, Despriet DD, Gorgels TG, et al. The ERCC6 gene and age-related macular degeneration. PLoS One. 2010;5:e13786.
    • (2010) PLoS One. , vol.5
    • Baas, D.C.1    Despriet, D.D.2    Gorgels, T.G.3


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