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Volumn 135, Issue 2, 2016, Pages 193-200

Exome-based case–control association study using extreme phenotype design reveals novel candidates with protective effect in diabetic retinopathy

(18)  Shtir, Corina a   Aldahmesh, Mohammed A b   Al Dahmash, Saad c   Abboud, Emad d   Alkuraya, Hisham e   Abouammoh, Marwan A c   Nowailaty, Sawsan R h   Al Thubaiti, Ghazai h   Naim, E A b,f   ALYounes, B b,f   Binhumaid, F S b,f   ALOtaibi, A B f,g   Altamimi, A S f,g   Alamer, F H f,g   Hashem, Mais b   Abouelhoda, Mohamed f   Monies, Dorota b,f   Alkuraya, Fowzan S b,f  


Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CASE CONTROL STUDY; CLINICAL ARTICLE; CONTROLLED STUDY; DIABETIC RETINOPATHY; EXOME; FASTK GENE; FISHER EXACT TEST; GENE; GENE MUTATION; GENETIC ASSOCIATION; HUMAN; LOC728699 GENE; NME3 GENE; PHENOTYPE; PRIORITY JOURNAL; SEQUENCE ANALYSIS; ALLELE; DNA SEQUENCE; GENETIC MARKER; GENETIC PREDISPOSITION; GENETICS; GENOME-WIDE ASSOCIATION STUDY; MULTIVARIATE ANALYSIS; SAUDI ARABIA; SINGLE NUCLEOTIDE POLYMORPHISM;

EID: 84954386909     PISSN: 03406717     EISSN: 14321203     Source Type: Journal    
DOI: 10.1007/s00439-015-1624-8     Document Type: Article
Times cited : (45)

References (27)
  • 1
    • 70349088242 scopus 로고    scopus 로고
    • A systematic meta-analysis of genetic association studies for diabetic retinopathy
    • PID: 19587357, COI: 1:CAS:528:DC%2BD1MXhtFChsbbF
    • Abhary S, Hewitt AW, Burdon KP, Craig JE (2009) A systematic meta-analysis of genetic association studies for diabetic retinopathy. Diabetes 58:2137–2147
    • (2009) Diabetes , vol.58 , pp. 2137-2147
    • Abhary, S.1    Hewitt, A.W.2    Burdon, K.P.3    Craig, J.E.4
  • 3
    • 84872410521 scopus 로고    scopus 로고
    • Detecting rare variant effects using extreme phenotype sampling in sequencing association studies
    • PID: 23184518
    • Barnett IJ, Lee S, Lin X (2013) Detecting rare variant effects using extreme phenotype sampling in sequencing association studies. Genet Epidemiol 37:142–151
    • (2013) Genet Epidemiol , vol.37 , pp. 142-151
    • Barnett, I.J.1    Lee, S.2    Lin, X.3
  • 4
    • 77955013602 scopus 로고    scopus 로고
    • Diabetic retinopathy
    • PID: 20580421
    • Cheung N, Mitchell P, Wong TY (2010) Diabetic retinopathy. Lancet 376:124–136. doi:10.1016/S0140-6736(09)62124-3
    • (2010) Lancet , vol.376 , pp. 124-136
    • Cheung, N.1    Mitchell, P.2    Wong, T.Y.3
  • 5
    • 3843056691 scopus 로고    scopus 로고
    • Multiple rare alleles contribute to low plasma levels of HDL cholesterol
    • PID: 15297675, COI: 1:CAS:528:DC%2BD2cXmt1Krsbk%3D
    • Cohen JC, Kiss RS, Pertsemlidis A, Marcel YL, McPherson R, Hobbs HH (2004) Multiple rare alleles contribute to low plasma levels of HDL cholesterol. Science 305:869–872
    • (2004) Science , vol.305 , pp. 869-872
    • Cohen, J.C.1    Kiss, R.S.2    Pertsemlidis, A.3    Marcel, Y.L.4    McPherson, R.5    Hobbs, H.H.6
  • 6
    • 84864397328 scopus 로고    scopus 로고
    • Exome sequencing of extreme phenotypes identifies DCTN4 as a modifier of chronic Pseudomonas aeruginosa infection in cystic fibrosis
    • PID: 22772370, COI: 1:CAS:528:DC%2BC38XpvFClurw%3D
    • Emond MJ, Louie T, Emerson J, Zhao W, Mathias RA, Knowles MR, Wright FA, Rieder MJ, Tabor HK, Nickerson DA (2012) Exome sequencing of extreme phenotypes identifies DCTN4 as a modifier of chronic Pseudomonas aeruginosa infection in cystic fibrosis. Nat Genet 44:886–889
    • (2012) Nat Genet , vol.44 , pp. 886-889
    • Emond, M.J.1    Louie, T.2    Emerson, J.3    Zhao, W.4    Mathias, R.A.5    Knowles, M.R.6    Wright, F.A.7    Rieder, M.J.8    Tabor, H.K.9    Nickerson, D.A.10
  • 7
    • 11144356305 scopus 로고    scopus 로고
    • The prevalence of diabetic retinopathy among adults in the United States
    • Group EDPR (2004) The prevalence of diabetic retinopathy among adults in the United States. Arch Ophthalmol 122:552
    • (2004) Arch Ophthalmol , vol.122 , pp. 552
    • Group EDPR, E.D.P.R.1
  • 8
    • 50949088750 scopus 로고    scopus 로고
    • Heritability of proliferative diabetic retinopathy
    • PID: 18443200, COI: 1:CAS:528:DC%2BD1cXps1OisL0%3D
    • Hietala K, Forsblom C, Summanen P, Groop P-H (2008) Heritability of proliferative diabetic retinopathy. Diabetes 57:2176–2180
    • (2008) Diabetes , vol.57 , pp. 2176-2180
    • Hietala, K.1    Forsblom, C.2    Summanen, P.3    Groop, P.-H.4
  • 10
    • 84892714171 scopus 로고    scopus 로고
    • Challenges in elucidating the genetics of diabetic retinopathy
    • PID: 24201651, COI: 1:CAS:528:DC%2BC2cXjsVegtbw%3D
    • Kuo JZ, Wong TY, Rotter JI (2014) Challenges in elucidating the genetics of diabetic retinopathy. JAMA ophthalmology 132:96–107
    • (2014) JAMA ophthalmology , vol.132 , pp. 96-107
    • Kuo, J.Z.1    Wong, T.Y.2    Rotter, J.I.3
  • 11
    • 50949095168 scopus 로고    scopus 로고
    • Methods for detecting associations with rare variants for common diseases: application to analysis of sequence data
    • PID: 18691683, COI: 1:CAS:528:DC%2BD1cXhtFOisbfE
    • Li B, Leal SM (2008) Methods for detecting associations with rare variants for common diseases: application to analysis of sequence data. Am J Hum Genet 83:311–321
    • (2008) Am J Hum Genet , vol.83 , pp. 311-321
    • Li, B.1    Leal, S.M.2
  • 12
    • 82355169007 scopus 로고    scopus 로고
    • Using extreme phenotype sampling to identify the rare causal variants of quantitative traits in association studies
    • PID: 21922541
    • Li D, Lewinger JP, Gauderman WJ, Murcray CE, Conti D (2011) Using extreme phenotype sampling to identify the rare causal variants of quantitative traits in association studies. Genet Epidemiol 35:790–799
    • (2011) Genet Epidemiol , vol.35 , pp. 790-799
    • Li, D.1    Lewinger, J.P.2    Gauderman, W.J.3    Murcray, C.E.4    Conti, D.5
  • 13
    • 84887013854 scopus 로고    scopus 로고
    • Identifying rare variants associated with complex traits via sequencing
    • Li B, Liu DJ, Leal SM (2013) Identifying rare variants associated with complex traits via sequencing. Curr Protoc Hum Genet 1.26. 1–1.26. 22. doi:10.1002/0471142905.hg0126s78
    • (2013) Curr Protoc Hum Genet 1.26. , vol.26 , Issue.22 , pp. 1
    • Li, B.1    Liu, D.J.2    Leal, S.M.3
  • 14
    • 0030588128 scopus 로고    scopus 로고
    • Molecular cloning and chromosomal assignment of the human homologue of the rat cGMP-inhibited phosphodiesterase 1 (PDE3A)—A gene involved in fat metabolism located at 11p15. 1
    • PID: 8921398
    • Löbbert RW, Winterpacht A, Seipel B, Zabel BU (1996) Molecular cloning and chromosomal assignment of the human homologue of the rat cGMP-inhibited phosphodiesterase 1 (PDE3A)—A gene involved in fat metabolism located at 11p15. 1. Genomics 37:211–218
    • (1996) Genomics , vol.37 , pp. 211-218
    • Löbbert, R.W.1    Winterpacht, A.2    Seipel, B.3    Zabel, B.U.4
  • 17
    • 84880557325 scopus 로고    scopus 로고
    • Genomic medicine: a decade of successes, challenges, and opportunities
    • PID: 23761042
    • McCarthy JJ, McLeod HL, Ginsburg GS (2013) Genomic medicine: a decade of successes, challenges, and opportunities. Sci Transl Med 5:189sr4–189sr4
    • (2013) Sci Transl Med , vol.5 , pp. 189sr4
    • McCarthy, J.J.1    McLeod, H.L.2    Ginsburg, G.S.3
  • 18
    • 34548087845 scopus 로고    scopus 로고
    • Management of diabetic retinopathy: a systematic review
    • PID: 17712074, COI: 1:CAS:528:DC%2BD2sXpsFCrtLg%3D
    • Mohamed Q, Gillies MC, Wong TY (2007) Management of diabetic retinopathy: a systematic review. JAMA 298:902–916
    • (2007) JAMA , vol.298 , pp. 902-916
    • Mohamed, Q.1    Gillies, M.C.2    Wong, T.Y.3
  • 19
    • 84871099014 scopus 로고    scopus 로고
    • Disability-adjusted life years (DALYs) for 291 diseases and injuries in 21 regions, 1990–2010: a systematic analysis for the global burden of disease study 2010
    • Murray CJ, Vos T, Lozano R, Naghavi M, Flaxman AD, Michaud C, Ezzati M, Shibuya K, Salomon JA, Abdalla S (2013) Disability-adjusted life years (DALYs) for 291 diseases and injuries in 21 regions, 1990–2010: a systematic analysis for the global burden of disease study 2010. Lancet 380:2197–2223
    • (2013) Lancet , vol.380 , pp. 2197-2223
    • Murray, C.J.1    Vos, T.2    Lozano, R.3    Naghavi, M.4    Flaxman, A.D.5    Michaud, C.6    Ezzati, M.7    Shibuya, K.8    Salomon, J.A.9    Abdalla, S.10
  • 20
    • 84884269048 scopus 로고    scopus 로고
    • Candidate genes for proliferative diabetic retinopathy
    • Petrovič D (2013) Candidate genes for proliferative diabetic retinopathy. Biomed Res Int 2013. doi:10.1155/2013/540416
    • (2013) Biomed Res Int , pp. 2013
    • Petrovič, D.1
  • 21
    • 0030859498 scopus 로고    scopus 로고
    • Cyclic AMP-mediated regulation of vascular smooth muscle cell cyclic AMP phosphodiesterase activity
    • PID: 9313930, COI: 1:CAS:528:DyaK2sXmtlynu7s%3D
    • Rose R, Liu H, Palmer D, Maurice D (1997) Cyclic AMP-mediated regulation of vascular smooth muscle cell cyclic AMP phosphodiesterase activity. Br J Pharmacol 122:233–240
    • (1997) Br J Pharmacol , vol.122 , pp. 233-240
    • Rose, R.1    Liu, H.2    Palmer, D.3    Maurice, D.4
  • 22
    • 1842425677 scopus 로고    scopus 로고
    • The prevalence of diabetic retinopathy among adult type 1 diabetic persons in the United States
    • PID: 15078673
    • Roy MS, Klein R, O’Colmain BJ, Klein BE, Moss SE, Kempen JH (2004) The prevalence of diabetic retinopathy among adult type 1 diabetic persons in the United States. Arch Ophthalmol 122:546–551. doi:10.1001/archopht.122.4.546
    • (2004) Arch Ophthalmol , vol.122 , pp. 546-551
    • Roy, M.S.1    Klein, R.2    O’Colmain, B.J.3    Klein, B.E.4    Moss, S.E.5    Kempen, J.H.6
  • 23
  • 24
    • 80051827842 scopus 로고    scopus 로고
    • Optimum designs for next-generation sequencing to discover rare variants for common complex disease
    • PID: 21618604
    • Shi G, Rao D (2011) Optimum designs for next-generation sequencing to discover rare variants for common complex disease. Genet Epidemiol 35:572–579
    • (2011) Genet Epidemiol , vol.35 , pp. 572-579
    • Shi, G.1    Rao, D.2
  • 25
    • 0029126581 scopus 로고
    • Fas-activated serine/threonine kinase (FAST) phosphorylates TIA-1 during Fas-mediated apoptosis
    • PID: 7544399, COI: 1:CAS:528:DyaK2MXns1Sisrs%3D
    • Tian Q, Taupin J, Elledge S, Robertson M, Anderson P (1995) Fas-activated serine/threonine kinase (FAST) phosphorylates TIA-1 during Fas-mediated apoptosis. J Exp Med 182:865–874
    • (1995) J Exp Med , vol.182 , pp. 865-874
    • Tian, Q.1    Taupin, J.2    Elledge, S.3    Robertson, M.4    Anderson, P.5
  • 27
    • 2342466734 scopus 로고    scopus 로고
    • Global prevalence of diabetes estimates for the year 2000 and projections for 2030
    • PID: 15111519
    • Wild S, Roglic G, Green A, Sicree R, King H (2004) Global prevalence of diabetes estimates for the year 2000 and projections for 2030. Diabetes Care 27:1047–1053
    • (2004) Diabetes Care , vol.27 , pp. 1047-1053
    • Wild, S.1    Roglic, G.2    Green, A.3    Sicree, R.4    King, H.5


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