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Volumn 6, Issue , 2015, Pages

New loci and coding variants confer risk for age-related macular degeneration in East Asians

(104)  Cheng, Ching Yu a,b,c,d   Yamashiro, Kenji e   Jia Chen, Li f   Ahn, Jeeyun g   Huang, Lulin h,i   Huang, Lvzhen j,k,l   Cheung, Chui Ming G a,d   Miyake, Masahiro e   Cackett, Peter D d,m   Yeo, Ian Y d   Laude, Augustinus a,n   Mathur, Ranjana d   Pang, Junxiong o   Sim, Kar Seng o   Koh, Adrian H d,p   Chen, Peng c   Lee, Shu Yen d   Wong, Doric d   Chan, Choi Mun d   Loh, Boon Kwang d   more..


Author keywords

[No Author keywords available]

Indexed keywords

CHOLESTEROL ESTER TRANSFER PROTEIN; HIGH DENSITY LIPOPROTEIN CHOLESTEROL; CETP PROTEIN, HUMAN;

EID: 84955057955     PISSN: None     EISSN: 20411723     Source Type: Journal    
DOI: 10.1038/ncomms7063     Document Type: Article
Times cited : (123)

References (51)
  • 2
    • 84892965801 scopus 로고    scopus 로고
    • Global prevalence and burden of age-related macular degeneration: A meta-analysis and disease burden projection for 2020 and 2040
    • Wong, W. L. et al. Global prevalence and burden of age-related macular degeneration: a meta-analysis and disease burden projection for 2020 and 2040. Lancet Glob. Health 2, e106-e116 (2014).
    • (2014) Lancet Glob. Health , vol.2 , pp. e106-e116
    • Wong, W.L.1
  • 3
    • 34548406001 scopus 로고    scopus 로고
    • Protective effect of complement factor B and complement component 2 variants in age-related macular degeneration
    • Spencer, K. L. et al. Protective effect of complement factor B and complement component 2 variants in age-related macular degeneration. Hum. Mol. Genet. 16, 1986-1992 (2007).
    • (2007) Hum. Mol. Genet. , vol.16 , pp. 1986-1992
    • Spencer, K.L.1
  • 4
    • 77952147434 scopus 로고    scopus 로고
    • Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration
    • Chen, W. et al. Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration. Proc. Natl Acad. Sci. USA 107, 7401-7406 (2010).
    • (2010) Proc. Natl Acad. Sci. USA , vol.107 , pp. 7401-7406
    • Chen, W.1
  • 5
    • 80052196120 scopus 로고    scopus 로고
    • Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration
    • Yu, Y. et al. Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration. Hum. Mol. Genet. 20, 3699-3709 (2011).
    • (2011) Hum. Mol. Genet. , vol.20 , pp. 3699-3709
    • Yu, Y.1
  • 6
    • 84875706378 scopus 로고    scopus 로고
    • Seven new loci associated with age-related macular degeneration
    • Fritsche, L. G. et al. Seven new loci associated with age-related macular degeneration. Nat. Genet. 45, 433-439 439e431-432 (2013).
    • (2013) Nat. Genet. , vol.45
    • Fritsche, L.G.1
  • 7
    • 82255162545 scopus 로고    scopus 로고
    • A rare penetrant mutation in CFH confers high risk of age-related macular degeneration
    • Raychaudhuri, S. et al. A rare penetrant mutation in CFH confers high risk of age-related macular degeneration. Nat. Genet. 43, 1232-1236 (2011).
    • (2011) Nat. Genet. , vol.43 , pp. 1232-1236
    • Raychaudhuri, S.1
  • 8
    • 84887080613 scopus 로고    scopus 로고
    • Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration
    • Seddon, J. M. et al. Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration. Nat. Genet. 45, 1366-1370 (2013).
    • (2013) Nat. Genet. , vol.45 , pp. 1366-1370
    • Seddon, J.M.1
  • 9
    • 84887043851 scopus 로고    scopus 로고
    • A rare nonsynonymous sequence variant in C3 is associated with high risk of age-related macular degeneration
    • Helgason, H. et al. A rare nonsynonymous sequence variant in C3 is associated with high risk of age-related macular degeneration. Nat. Genet. 45, 1371-1374 (2013).
    • (2013) Nat. Genet. , vol.45 , pp. 1371-1374
    • Helgason, H.1
  • 10
    • 84887118518 scopus 로고    scopus 로고
    • Identification of a rare coding variant in complement 3 associated with age-related macular degeneration
    • Zhan, X. et al. Identification of a rare coding variant in complement 3 associated with age-related macular degeneration. Nat. Genet. 45, 1375-1379 (2013).
    • (2013) Nat. Genet. , vol.45 , pp. 1375-1379
    • Zhan, X.1
  • 11
    • 80053385445 scopus 로고    scopus 로고
    • Genome-wide association study identifies two susceptibility loci for exudative age-related macular degeneration in the Japanese population
    • Arakawa, S. et al. Genome-wide association study identifies two susceptibility loci for exudative age-related macular degeneration in the Japanese population. Nat. Genet. 43, 1001-1004 (2011).
    • (2011) Nat. Genet. , vol.43 , pp. 1001-1004
    • Arakawa, S.1
  • 12
    • 74749098670 scopus 로고    scopus 로고
    • Polypoidal choroidal vasculopathy and neovascular age-related macular degeneration: Same or different disease?
    • Laude, A. et al. Polypoidal choroidal vasculopathy and neovascular age-related macular degeneration: same or different disease? Prog. Retin. Eye Res. 29, 19-29 (2010).
    • (2010) Prog. Retin. Eye Res. , vol.29 , pp. 19-29
    • Laude, A.1
  • 13
    • 83155182823 scopus 로고    scopus 로고
    • Ranibizumab and bevacizumab for AMD
    • author reply 2237
    • Cheung, C. M. & Wong, T. Y. Ranibizumab and bevacizumab for AMD New Engl. J. Med. 365, 2237 author reply 2237 (2011).
    • (2011) New Engl. J. Med. , vol.365 , pp. 2237
    • Cheung, C.M.1    Wong, T.Y.2
  • 14
    • 84879692071 scopus 로고    scopus 로고
    • A functional variant in the CFI gene confers a high risk of age-related macular degeneration
    • van de Ven, J. P. et al. A functional variant in the CFI gene confers a high risk of age-related macular degeneration. Nat. Genet. 45, 813-817 (2013).
    • (2013) Nat. Genet. , vol.45 , pp. 813-817
    • Van De Ven, J.P.1
  • 15
    • 84873085571 scopus 로고    scopus 로고
    • Exome array analysis identifies new loci and low-frequency variants influencing insulin processing and secretion
    • Huyghe, J. R. et al. Exome array analysis identifies new loci and low-frequency variants influencing insulin processing and secretion. Nat. Genet. 45, 197-201 (2013).
    • (2013) Nat. Genet. , vol.45 , pp. 197-201
    • Huyghe, J.R.1
  • 16
    • 84864953892 scopus 로고    scopus 로고
    • Optimal tests for rare variant effects in sequencing association studies
    • Lee, S., Wu, M. C. & Lin, X. Optimal tests for rare variant effects in sequencing association studies. Biostatistics 13, 762-775 (2012).
    • (2012) Biostatistics , vol.13 , pp. 762-775
    • Lee, S.1    Wu, M.C.2    Lin, X.3
  • 17
    • 0028135441 scopus 로고
    • Genetic cholesteryl ester transfer protein deficiency caused by two prevalent mutations as a major determinant of increased levels of high density lipoprotein cholesterol
    • Inazu, A. et al. Genetic cholesteryl ester transfer protein deficiency caused by two prevalent mutations as a major determinant of increased levels of high density lipoprotein cholesterol. J Clin. Invest. 94, 1872-1882 (1994).
    • (1994) J Clin. Invest. , vol.94 , pp. 1872-1882
    • Inazu, A.1
  • 18
    • 0037327033 scopus 로고    scopus 로고
    • Cholesteryl ester transfer protein: A novel target for raising HDL and inhibiting atherosclerosis
    • Barter, P. J. et al. Cholesteryl ester transfer protein: a novel target for raising HDL and inhibiting atherosclerosis. Arterioscler. Thromb. Vasc. Biol. 23, 160-167 (2003).
    • (2003) Arterioscler. Thromb. Vasc. Biol. , vol.23 , pp. 160-167
    • Barter, P.J.1
  • 19
    • 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. 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. 16, 325-336 (2009).
    • (2009) Ophthalmic Epidemiol. , vol.16 , pp. 325-336
    • Lavanya, R.1
  • 20
    • 73249131773 scopus 로고    scopus 로고
    • Retinal arteriolar narrowing increases the likelihood of chronic kidney disease in hypertension
    • Sabanayagam, C. et al. Retinal arteriolar narrowing increases the likelihood of chronic kidney disease in hypertension. J. Hypertens. 27, 2209-2217 (2009).
    • (2009) J. Hypertens. , vol.27 , pp. 2209-2217
    • Sabanayagam, C.1
  • 21
    • 84859967523 scopus 로고    scopus 로고
    • Prevalence of and risk factors for age-related macular degeneration in a multiethnic Asian cohort
    • Cheung, C. M. et al. Prevalence of and risk factors for age-related macular degeneration in a multiethnic Asian cohort. Arch. Ophthalmol. 130, 480-486 (2012).
    • (2012) Arch. Ophthalmol. , vol.130 , pp. 480-486
    • Cheung, C.M.1
  • 22
    • 84885982248 scopus 로고    scopus 로고
    • Prevalence and characteristics of age-related macular degeneration in the Japanese population: The nagahama study
    • Nakata, I. et al. Prevalence and characteristics of age-related macular degeneration in the Japanese population: the nagahama study. Am. J. Ophthalmol. 156, 1002-1009 e1002 (2013).
    • (2013) Am. J. Ophthalmol. , vol.156
    • Nakata, I.1
  • 23
    • 38649132270 scopus 로고    scopus 로고
    • Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans
    • Kathiresan, S. et al. Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans. Nat. Genet. 40, 189-197 (2008).
    • (2008) Nat. Genet. , vol.40 , pp. 189-197
    • Kathiresan, S.1
  • 24
    • 58149163149 scopus 로고    scopus 로고
    • Common variants at 30 loci contribute to polygenic dyslipidemia
    • Kathiresan, S. et al. Common variants at 30 loci contribute to polygenic dyslipidemia. Nat. Genet. 41, 56-65 (2009).
    • (2009) Nat. Genet. , vol.41 , pp. 56-65
    • Kathiresan, S.1
  • 25
    • 0035238679 scopus 로고    scopus 로고
    • Singapore Chinese Health Study: Development, validation, and calibration of the quantitative food frequency questionnaire
    • Hankin, J. H. et al. Singapore Chinese Health Study: development, validation, and calibration of the quantitative food frequency questionnaire. Nutr. Cancer 39, 187-195 (2001).
    • (2001) Nutr. Cancer , vol.39 , pp. 187-195
    • Hankin, J.H.1
  • 26
    • 84866866856 scopus 로고    scopus 로고
    • Association of genetic variants influencing lipid levels with coronary artery disease in Japanese individuals
    • Takeuchi, F. et al. Association of genetic variants influencing lipid levels with coronary artery disease in Japanese individuals. PLoS ONE 7, e46385 (2012).
    • (2012) PLoS ONE , vol.7
    • Takeuchi, F.1
  • 27
    • 0027420629 scopus 로고
    • A missense mutation in the cholesteryl ester transfer protein gene with possible dominant effects on plasma high density lipoproteins
    • Takahashi, K. et al. A missense mutation in the cholesteryl ester transfer protein gene with possible dominant effects on plasma high density lipoproteins. J. Clin. Invest. 92, 2060-2064 (1993).
    • (1993) J. Clin. Invest. , vol.92 , pp. 2060-2064
    • Takahashi, K.1
  • 28
    • 0142104870 scopus 로고    scopus 로고
    • A polymorphism of the cholesteryl ester transfer protein gene predicts cardiovascular events in non-smokers in the West of Scotland Coronary Prevention Study
    • Freeman, D. J. et al. A polymorphism of the cholesteryl ester transfer protein gene predicts cardiovascular events in non-smokers in the West of Scotland Coronary Prevention Study. Eur. Heart J. 24, 1833-1842 (2003).
    • (2003) Eur. Heart J. , vol.24 , pp. 1833-1842
    • Freeman, D.J.1
  • 29
    • 0034016466 scopus 로고    scopus 로고
    • LDL cholesterol as a strong predictor of coronary heart disease in diabetic individuals with insulin resistance and low LDL: The Strong Heart Study
    • Howard, B. V. et al. LDL cholesterol as a strong predictor of coronary heart disease in diabetic individuals with insulin resistance and low LDL: The Strong Heart Study. Arterioscler. Thromb. Vasc. Biol. 20, 830-835 (2000).
    • (2000) Arterioscler. Thromb. Vasc. Biol. , vol.20 , pp. 830-835
    • Howard, B.V.1
  • 30
    • 0037069339 scopus 로고    scopus 로고
    • Low-density lipoprotein, non-high-density lipoprotein, and apolipoprotein B as targets of lipid-lowering therapy
    • Grundy, S. M. Low-density lipoprotein, non-high-density lipoprotein, and apolipoprotein B as targets of lipid-lowering therapy. Circulation 106, 2526-2529 (2002).
    • (2002) Circulation , vol.106 , pp. 2526-2529
    • Grundy, S.M.1
  • 31
    • 77955659292 scopus 로고    scopus 로고
    • Photodynamic therapy alone versus combined with intravitreal bevacizumab for neovascular age-related macular degeneration without polypoidal choroidal vasculopathy in Japanese patients
    • Hara, R. et al. Photodynamic therapy alone versus combined with intravitreal bevacizumab for neovascular age-related macular degeneration without polypoidal choroidal vasculopathy in Japanese patients. Graefes Arch. Clin. Exp. Ophthalmol. 248, 931-936 (2010).
    • (2010) Graefes Arch. Clin. Exp. Ophthalmol. , vol.248 , pp. 931-936
    • Hara, R.1
  • 32
    • 85027954267 scopus 로고    scopus 로고
    • Genome-wide association study identifies a susceptibility locus for HCV-induced hepatocellular carcinoma
    • Kumar, V. et al. Genome-wide association study identifies a susceptibility locus for HCV-induced hepatocellular carcinoma. Nat. Genet. 43, 455-458 (2011).
    • (2011) Nat. Genet. , vol.43 , pp. 455-458
    • Kumar, V.1
  • 33
    • 84866937862 scopus 로고    scopus 로고
    • Common variants at the MHC locus and at chromosome 16q24.1 predispose to Barrett's esophagus
    • Su, Z. et al. Common variants at the MHC locus and at chromosome 16q24.1 predispose to Barrett's esophagus. Nat. Genet. 44, 1131-1136 (2012).
    • (2012) Nat. Genet. , vol.44 , pp. 1131-1136
    • Su, Z.1
  • 34
    • 0034652249 scopus 로고    scopus 로고
    • An electric lobe suppressor for a yeast choline transport mutation belongs to a new family of transporter-like proteins
    • O'Regan, S. et al. An electric lobe suppressor for a yeast choline transport mutation belongs to a new family of transporter-like proteins. Proc. Natl Acad. Sci. USA 97, 1835-1840 (2000).
    • (2000) Proc. Natl Acad. Sci. USA , vol.97 , pp. 1835-1840
    • O'Regan, S.1
  • 35
    • 0037134856 scopus 로고    scopus 로고
    • Identification of a CTL4/Neu1 fusion transcript in a sialidosis patient
    • Uhl, J. et al. Identification of a CTL4/Neu1 fusion transcript in a sialidosis patient. FEBS Lett. 521, 19-23 (2002).
    • (2002) FEBS Lett. , vol.521 , pp. 19-23
    • Uhl, J.1
  • 36
    • 77951640946 scopus 로고    scopus 로고
    • A method and server for predicting damaging missense mutations
    • Adzhubei, I. A. et al. A method and server for predicting damaging missense mutations. Nat. Methods 7, 248-249 (2010).
    • (2010) Nat. Methods , vol.7 , pp. 248-249
    • Adzhubei, I.A.1
  • 37
    • 0043122919 scopus 로고    scopus 로고
    • SIFT: Predicting amino acid changes that affect protein function
    • Ng, P. C. & Henikoff, S. SIFT: predicting amino acid changes that affect protein function. Nucleic Acids Res. 31, 3812-3814 (2003).
    • (2003) Nucleic Acids Res. , vol.31 , pp. 3812-3814
    • Ng, P.C.1    Henikoff, S.2
  • 38
    • 77955868835 scopus 로고    scopus 로고
    • Using SIFT and PolyPhen to predict loss-of-function and gain-of-function mutations
    • Flanagan, S. E., Patch, A. M. & Ellard, S. Using SIFT and PolyPhen to predict loss-of-function and gain-of-function mutations. Genet. Test. Mol. Biomarkers 14, 533-537 (2010).
    • (2010) Genet. Test. Mol. Biomarkers , vol.14 , pp. 533-537
    • Flanagan, S.E.1    Patch, A.M.2    Ellard, S.3
  • 39
    • 84858779229 scopus 로고    scopus 로고
    • HaploReg: A resource for exploring chromatin states, conservation, and regulatory motif alterations within sets of genetically linked variants
    • Ward, L. D. & Kellis, M. HaploReg: a resource for exploring chromatin states, conservation, and regulatory motif alterations within sets of genetically linked variants. Nucleic Acids Res. 40, D930-D934 (2012).
    • (2012) Nucleic Acids Res. , vol.40 , pp. D930-D934
    • Ward, L.D.1    Kellis, M.2
  • 40
    • 84865712382 scopus 로고    scopus 로고
    • Annotation of functional variation in personal genomes using RegulomeDB
    • Boyle, A. P. et al. Annotation of functional variation in personal genomes using RegulomeDB. Genome Res. 22, 1790-1797 (2012).
    • (2012) Genome Res. , vol.22 , pp. 1790-1797
    • Boyle, A.P.1
  • 41
    • 84865790047 scopus 로고    scopus 로고
    • An integrated encyclopedia of DNA elements in the human genome
    • Consortium, E. P. et al. An integrated encyclopedia of DNA elements in the human genome. Nature 489, 57-74 (2012).
    • (2012) Nature , vol.489 , pp. 57-74
  • 42
    • 84885018609 scopus 로고    scopus 로고
    • Systematic identification of trans eQTLs as putative drivers of known disease associations
    • Westra, H. J. et al. Systematic identification of trans eQTLs as putative drivers of known disease associations. Nat. Genet. 45, 1238-1243 (2013).
    • (2013) Nat. Genet. , vol.45 , pp. 1238-1243
    • Westra, H.J.1
  • 43
    • 0025837828 scopus 로고
    • Laser photocoagulation of subfoveal neovascular lesions in age-related macular degeneration. Results of a randomized clinical trial
    • Macular Photocoagulation Study Group
    • Laser photocoagulation of subfoveal neovascular lesions in age-related macular degeneration. Results of a randomized clinical trial. Macular Photocoagulation Study Group. Arch. Ophthalmol. 109, 1220-1231 (1991).
    • (1991) Arch. Ophthalmol. , vol.109 , pp. 1220-1231
  • 44
    • 23944457674 scopus 로고    scopus 로고
    • Criteria for diagnosis of polypoidal choroidal vasculopathy
    • Japanese Study Group of Polypoidal Choroidal, V. [Criteria for diagnosis of polypoidal choroidal vasculopathy]. Nihon Ganka Gakkai Zasshi 109, 417-427 (2005).
    • (2005) Nihon Ganka Gakkai Zasshi , vol.109 , pp. 417-427
  • 45
    • 34548292504 scopus 로고    scopus 로고
    • PLINK: A tool set for whole-genome association and population-based linkage analyses
    • Purcell, S. et al. PLINK: a tool set for whole-genome association and population-based linkage analyses. Am. J. Hum. Genet. 81, 559-575 (2007).
    • (2007) Am. J. Hum. Genet. , vol.81 , pp. 559-575
    • Purcell, S.1
  • 46
    • 34347344976 scopus 로고    scopus 로고
    • A new multipoint method for genome-wide association studies by imputation of genotypes
    • Marchini, J., Howie, B., Myers, S., McVean, G. & Donnelly, P. A new multipoint method for genome-wide association studies by imputation of genotypes. Nat. Genet. 39, 906-913 (2007).
    • (2007) Nat. Genet. , vol.39 , pp. 906-913
    • Marchini, J.1    Howie, B.2    Myers, S.3    McVean, G.4    Donnelly, P.5
  • 47
    • 67651222400 scopus 로고    scopus 로고
    • A flexible and accurate genotype imputation method for the next generation of genome-wide association studies
    • Howie, B. N., Donnelly, P. & Marchini, J. A flexible and accurate genotype imputation method for the next generation of genome-wide association studies. PLoS Genet. 5, e1000529 (2009).
    • (2009) PLoS Genet. , vol.5
    • Howie, B.N.1    Donnelly, P.2    Marchini, J.3
  • 48
    • 84864417548 scopus 로고    scopus 로고
    • Fast and accurate genotype imputation in genome-wide association studies through pre-phasing
    • Howie, B., Fuchsberger, C., Stephens, M., Marchini, J. & Abecasis, G. R. Fast and accurate genotype imputation in genome-wide association studies through pre-phasing. Nat. Genet. 44, 955-959 (2012).
    • (2012) Nat. Genet. , vol.44 , pp. 955-959
    • Howie, B.1    Fuchsberger, C.2    Stephens, M.3    Marchini, J.4    Abecasis, G.R.5
  • 49
    • 84866888701 scopus 로고    scopus 로고
    • Genome-wide association analyses identify three new susceptibility loci for primary angle closure glaucoma
    • Vithana, E. N. et al. Genome-wide association analyses identify three new susceptibility loci for primary angle closure glaucoma. Nat. Genet. 44, 1142-1146 (2012).
    • (2012) Nat. Genet. , vol.44 , pp. 1142-1146
    • Vithana, E.N.1
  • 50
    • 82255186670 scopus 로고    scopus 로고
    • Genome-wide association study identifies FCGR2A as a susceptibility locus for Kawasaki disease
    • Khor, C. C. et al. Genome-wide association study identifies FCGR2A as a susceptibility locus for Kawasaki disease. Nat. Genet. 43, 1241-1246 (2011).
    • (2011) Nat. Genet. , vol.43 , pp. 1241-1246
    • Khor, C.C.1
  • 51
    • 12244264435 scopus 로고    scopus 로고
    • Genetic Power Calculator: Design of linkage and association genetic mapping studies of complex traits
    • Purcell, S., Cherny, S. S. & Sham, P. C. Genetic Power Calculator: design of linkage and association genetic mapping studies of complex traits. Bioinformatics 19, 149-150 (2003).
    • (2003) Bioinformatics , vol.19 , pp. 149-150
    • Purcell, S.1    Cherny, S.S.2    Sham, P.C.3


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