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Volumn 45, Issue 10, 2013, Pages

Targeted resequencing of candidate genes reveals novel variants associated with severe Behçet's uveitis

Author keywords

Beh et's disease; next generation sequencing; uveitis

Indexed keywords

INTERCELLULAR ADHESION MOLECULE 1; ALPHA INTERFERON; FC RECEPTOR; FCGR3A PROTEIN, HUMAN; HLA ANTIGEN CLASS 1; ICAM1 PROTEIN, HUMAN; IFNA1 PROTEIN, HUMAN; KILLER CELL IMMUNOGLOBULIN LIKE RECEPTOR; KILLER CELL IMMUNOGLOBULIN LIKE RECEPTOR 2DL4; KIR2DL4 PROTEIN, HUMAN; KIR3DL3 PROTEIN, HUMAN; MHC CLASS I-RELATED CHAIN A; MHC CLASS I RELATED CHAIN A;

EID: 84892393013     PISSN: 12263613     EISSN: 20926413     Source Type: Journal    
DOI: 10.1038/emm.2013.101     Document Type: Article
Times cited : (19)

References (40)
  • 2
    • 0034757551 scopus 로고    scopus 로고
    • Behcet's disease: Infectious aetiology, new autoantigens, and HLA-B51
    • Direskeneli H. Behcet's disease: infectious aetiology, new autoantigens, and HLA-B51. Ann Rheum Dis 2001; 60: 996-1002.
    • (2001) Ann Rheum Dis , vol.60 , pp. 996-1002
    • Direskeneli, H.1
  • 4
    • 78751694700 scopus 로고    scopus 로고
    • Genetic susceptibility to Behcet's disease: Role of genes belonging to the MHC region
    • (Oxford)
    • Piga M, Mathieu A. Genetic susceptibility to Behcet's disease: role of genes belonging to the MHC region. Rheumatology (Oxford) 2011; 50: 299-310.
    • (2011) Rheumatology , vol.50 , pp. 299-310
    • Piga, M.1    Mathieu, A.2
  • 5
    • 0033185755 scopus 로고    scopus 로고
    • Behcet's disease, the Silk Road and HLA-B51: Historical and geographical perspectives
    • Verity DH, Marr JE, Ohno S, Wallace GR, Stanford MR. Behcet's disease, the Silk Road and HLA-B51: historical and geographical perspectives. Tissue Antigens 1999; 54: 213-220.
    • (1999) Tissue Antigens , vol.54 , pp. 213-220
    • Verity, D.H.1    Marr, J.E.2    Ohno, S.3    Wallace, G.R.4    Stanford, M.R.5
  • 6
    • 38549120095 scopus 로고    scopus 로고
    • The genetics of Adamantiades-Behcet's disease
    • Durrani K, Papaliodis GN. The genetics of Adamantiades-Behcet's disease. Semin Ophthalmol 2008; 23: 73-79.
    • (2008) Semin Ophthalmol , vol.23 , pp. 73-79
    • Durrani, K.1    Papaliodis, G.N.2
  • 7
    • 65849187119 scopus 로고    scopus 로고
    • Association of TLR4 polymorphisms with Behcet's disease in a Korean population
    • (Oxford)
    • Horie Y, Meguro A, Ota M, Kitaichi N, Katsuyama Y, Takemoto Y et al. Association of TLR4 polymorphisms with Behcet's disease in a Korean population. Rheumatology (Oxford) 2009; 48: 638-642.
    • (2009) Rheumatology , vol.48 , pp. 638-642
    • Horie, Y.1    Meguro, A.2    Ota, M.3    Kitaichi, N.4    Katsuyama, Y.5    Takemoto, Y.6
  • 9
    • 77955091234 scopus 로고    scopus 로고
    • Genomewide association studies identify IL23R-IL12RB2 and IL10 as Behcet's disease susceptibility loci
    • Mizuki N, Meguro A, Ota M, Ohno S, Shiota T, Kawagoe T et al. Genomewide association studies identify IL23R-IL12RB2 and IL10 as Behcet's disease susceptibility loci. Nat Genet 2010; 42: 703-706.
    • (2010) Nat Genet , vol.42 , pp. 703-706
    • Mizuki, N.1    Meguro, A.2    Ota, M.3    Ohno, S.4    Shiota, T.5    Kawagoe, T.6
  • 10
    • 77955087288 scopus 로고    scopus 로고
    • Genome-wide association study identifies variants in the MHC class I, IL10, and IL23R-IL12RB2 regions associated with Behcet's disease
    • Remmers EF, Cosan F, Kirino Y, Ombrello MJ, Abaci N, Satorius C et al. Genome-wide association study identifies variants in the MHC class I, IL10, and IL23R-IL12RB2 regions associated with Behcet's disease. Nat Genet 2010; 42: 698-702.
    • (2010) Nat Genet , vol.42 , pp. 698-702
    • Remmers, E.F.1    Cosan, F.2    Kirino, Y.3    Ombrello, M.J.4    Abaci, N.5    Satorius, C.6
  • 11
    • 78049336905 scopus 로고    scopus 로고
    • Wholeexome sequencing identifies recessive WDR62 mutations in severe brain malformations
    • Bilguvar K, Ozturk AK, Louvi A, Kwan KY, Choi M, Tatli B et al. Wholeexome sequencing identifies recessive WDR62 mutations in severe brain malformations. Nature 2010; 467: 207-210.
    • (2010) Nature , vol.467 , pp. 207-210
    • Bilguvar, K.1    Ozturk, A.K.2    Louvi, A.3    Kwan, K.Y.4    Choi, M.5    Tatli, B.6
  • 12
    • 73449142861 scopus 로고    scopus 로고
    • DNA sequence capture and enrichment by microarray followed by next-generation sequencing for targeted resequencing: Neurofibromatosis type 1 gene as a model
    • Chou LS, Liu CS, Boese B, Zhang X, Mao R. DNA sequence capture and enrichment by microarray followed by next-generation sequencing for targeted resequencing: neurofibromatosis type 1 gene as a model. Clin Chem 2010; 56: 62-72.
    • (2010) Clin Chem , vol.56 , pp. 62-72
    • Chou, L.S.1    Liu, C.S.2    Boese, B.3    Zhang, X.4    Mao, R.5
  • 14
    • 81055157739 scopus 로고    scopus 로고
    • Genetic diagnosis of Duchenne and Becker muscular dystrophy using next-generation sequencing technology: Comprehensive mutational search in a single platform
    • Lim BC, Lee S, Shin JY, Kim JI, Hwang H, Kim KJ et al. Genetic diagnosis of Duchenne and Becker muscular dystrophy using next-generation sequencing technology: comprehensive mutational search in a single platform. J Med Genet 2011; 48: 731-736.
    • (2011) J Med Genet , vol.48 , pp. 731-736
    • Lim, B.C.1    Lee, S.2    Shin, J.Y.3    Kim, J.I.4    Hwang, H.5    Kim, K.J.6
  • 15
    • 84860856675 scopus 로고    scopus 로고
    • Excess of rare variants in non-genome-wide association study candidate genes in patients with hypertriglyceridemia
    • Johansen CT, Wang J, McIntyre AD, Martins RA, Ban MR, Lanktree MB et al. Excess of rare variants in non-genome-wide association study candidate genes in patients with hypertriglyceridemia. Circ Cardiovasc Genet 2012; 5: 66-72.
    • (2012) Circ Cardiovasc Genet , vol.5 , pp. 66-72
    • Johansen, C.T.1    Wang, J.2    McIntyre, A.D.3    Martins, R.A.4    Ban, M.R.5    Lanktree, M.B.6
  • 16
    • 84872247974 scopus 로고    scopus 로고
    • Exomic sequencing of immune-related genes reveals novel candidate variants associated with alopecia universalis
    • Lee S, Paik SH, Kim HJ, Ryu HH, Cha S, Jo SJ et al. Exomic sequencing of immune-related genes reveals novel candidate variants associated with alopecia universalis. PLoS One 2013; 8: e53613.
    • (2013) PLoS One , vol.8
    • Lee, S.1    Paik, S.H.2    Kim, H.J.3    Ryu, H.H.4    Cha, S.5    Jo, S.J.6
  • 18
    • 77951820899 scopus 로고    scopus 로고
    • Fast and SNP-tolerant detection of complex variants and splicing in short reads
    • Wu TD, Nacu S. Fast and SNP-tolerant detection of complex variants and splicing in short reads. Bioinformatics 2010; 26: 873-881.
    • (2010) Bioinformatics , vol.26 , pp. 873-881
    • Wu, T.D.1    Nacu, S.2
  • 19
    • 69249232047 scopus 로고    scopus 로고
    • A highly annotated whole-genome sequence of a Korean individual
    • Kim JI, Ju YS, Park H, Kim S, Lee S, Yi JH et al. A highly annotated whole-genome sequence of a Korean individual. Nature 2009; 460: 1011-1015.
    • (2009) Nature , vol.460 , pp. 1011-1015
    • Kim, J.I.1    Ju, Y.S.2    Park, H.3    Kim, S.4    Lee, S.5    Yi, J.H.6
  • 20
    • 79960914208 scopus 로고    scopus 로고
    • Extensive genomic and transcriptional diversity identified through massively parallel DNA and RNA sequencing of eighteen Korean individuals
    • Ju YS, Kim JI, Kim S, Hong D, Park H, Shin JY et al. Extensive genomic and transcriptional diversity identified through massively parallel DNA and RNA sequencing of eighteen Korean individuals. Nat Genet 2011; 43: 745-752.
    • (2011) Nat Genet , vol.43 , pp. 745-752
    • Ju, Y.S.1    Kim, J.I.2    Kim, S.3    Hong, D.4    Park, H.5    Shin, J.Y.6
  • 21
    • 68149165614 scopus 로고    scopus 로고
    • Predicting the effects of coding nonsynonymous variants on protein function using the SIFT algorithm
    • Kumar P, Henikoff S, Ng PC. Predicting the effects of coding nonsynonymous variants on protein function using the SIFT algorithm. Nat Protoc 2009; 4: 1073-1081.
    • (2009) Nat Protoc , vol.4 , pp. 1073-1081
    • Kumar, P.1    Henikoff, S.2    Ng, P.C.3
  • 23
    • 55049115440 scopus 로고    scopus 로고
    • FcgammaRIIa IIIa and IIIb gene polymorphisms in Behcet's disease: Do they have any clinical implications?
    • Aksu K, Kitapcioglu G, Keser G, Berdeli A, Karabulut G, Kobak S et al. FcgammaRIIa, IIIa and IIIb gene polymorphisms in Behcet's disease: do they have any clinical implications? Clin Exp Rheumatol 2008; 26 (4 Suppl 50), S77-S83.
    • (2008) Clin Exp Rheumatol , vol.26 , Issue.4 SUPPL. 50
    • Aksu, K.1    Kitapcioglu, G.2    Keser, G.3    Berdeli, A.4    Karabulut, G.5    Kobak, S.6
  • 24
    • 72649099629 scopus 로고    scopus 로고
    • Intercellular adhesion molecule 1 K469E gene polymorphism is associated with presence of skin lesions in Tunisian Behcet's disease patients
    • Ben Dhifallah I, Karray EF, Sassi F, Hamzaoui K. Intercellular adhesion molecule 1 K469E gene polymorphism is associated with presence of skin lesions in Tunisian Behcet's disease patients. Tissue Antigens 2010; 75: 74-78.
    • (2010) Tissue Antigens , vol.75 , pp. 74-78
    • Ben Dhifallah, I.1    Karray, E.F.2    Sassi, F.3    Hamzaoui, K.4
  • 25
    • 0642277641 scopus 로고    scopus 로고
    • The ICAM1469 E is associated with susceptibility to ocular lesions and vasculitis in Korean patients with Behcet's disease
    • Kim EH, Mok JW, Bang D, Lee ES, Lee S, Park KS. The ICAM1469 E is associated with susceptibility to ocular lesions and vasculitis in Korean patients with Behcet's disease. Adv Exp Med Biol 2003; 528: 235-236.
    • (2003) Adv Exp Med Biol , vol.528 , pp. 235-236
    • Kim, E.H.1    Mok, J.W.2    Bang, D.3    Lee, E.S.4    Lee, S.5    Park, K.S.6
  • 26
    • 39049189139 scopus 로고    scopus 로고
    • Association between K469E polymorphism of intracellular adhesion molecules-1 ICAM-1 and Behcet's disease
    • Saadat M. Association between K469E polymorphism of intracellular adhesion molecules-1 ICAM-1 and Behcet's disease. Saudi Med J 2006; 27: 1934.
    • (2006) Saudi Med J , vol.27 , pp. 1934
    • Saadat, M.1
  • 28
    • 0035874522 scopus 로고    scopus 로고
    • Human natural killer cells: A unique innate immunoregulatory role for the CD56(bright) subset
    • Cooper MA, Fehniger TA, Turner SC, Chen KS, Ghaheri BA, Ghayur T et al. Human natural killer cells: a unique innate immunoregulatory role for the CD56(bright) subset. Blood 2001; 97: 3146-3151.
    • (2001) Blood , vol.97 , pp. 3146-3151
    • Cooper, M.A.1    Fehniger, T.A.2    Turner, S.C.3    Chen, K.S.4    Ghaheri, B.A.5    Ghayur, T.6
  • 29
    • 0026591720 scopus 로고
    • Increased peripheral blood gamma delta\+ T cells and natural killer cells in Behcet's disease
    • Suzuki Y, Hoshi K, Matsuda T, Mizushima Y. Increased peripheral blood gamma delta\+ T cells and natural killer cells in Behcet's disease. J Rheumatol 1992; 19: 588-592.
    • (1992) J Rheumatol , vol.19 , pp. 588-592
    • Suzuki, Y.1    Hoshi, K.2    Matsuda, T.3    Mizushima, Y.4
  • 30
    • 3543031101 scopus 로고    scopus 로고
    • The number of CD8\+ T cells and NKT cells increases in the aqueous humor of patients with Behcet's uveitis
    • Yu HG, Lee DS, Seo JM, Ahn JK, Yu YS, Lee WJ et al. The number of CD8\+ T cells and NKT cells increases in the aqueous humor of patients with Behcet's uveitis. Clin Exp Immunol 2004; 137: 437-443.
    • (2004) Clin Exp Immunol , vol.137 , pp. 437-443
    • Yu, H.G.1    Lee, D.S.2    Seo, J.M.3    Ahn, J.K.4    Yu, Y.S.5    Lee, W.J.6
  • 31
    • 27144435475 scopus 로고    scopus 로고
    • CD8brightCD56\+ T cells are cytotoxic effectors in patients with active Behcet's uveitis
    • Ahn JK, Chung H, Lee DS, Yu YS, Yu HG. CD8brightCD56\+ T cells are cytotoxic effectors in patients with active Behcet's uveitis. J Immunol 2005; 175: 6133-6142.
    • (2005) J Immunol , vol.175 , pp. 6133-6142
    • Ahn, J.K.1    Chung, H.2    Lee, D.S.3    Yu, Y.S.4    Yu, H.G.5
  • 35
    • 0036280103 scopus 로고    scopus 로고
    • Serum homocysteine level is increased and correlated with endothelin-1 and nitric oxide in Behcet's disease
    • Er H, Evereklioglu C, Cumurcu T, Turkoz Y, Ozerol E, Sahin K et al. Serum homocysteine level is increased and correlated with endothelin-1 and nitric oxide in Behcet's disease. Br J Ophthalmol 2002; 86: 653-657.
    • (2002) Br J Ophthalmol , vol.86 , pp. 653-657
    • Er, H.1    Evereklioglu, C.2    Cumurcu, T.3    Turkoz, Y.4    Ozerol, E.5    Sahin, K.6
  • 36
    • 28444440613 scopus 로고    scopus 로고
    • 10-Methylenetetrahydrofolate reductase C677T gene polymorphism in Behcet's patients with or without ocular involvement
    • Ozkul Y, Evereklioglu C, Borlu M, Taheri S, Calis M, Dundar M et al. 5,10-Methylenetetrahydrofolate reductase C677T gene polymorphism in Behcet's patients with or without ocular involvement. Br J Ophthalmol 2005; 89: 1634-1637.
    • (2005) Br J Ophthalmol , vol.5 , Issue.89 , pp. 1634-1637
    • Ozkul, Y.1    Evereklioglu, C.2    Borlu, M.3    Taheri, S.4    Calis, M.5    Dundar, M.6
  • 37
    • 0031026572 scopus 로고    scopus 로고
    • Triplet repeat polymorphism in the transmembrane region of the MICA gene: A strong association of six GCT repetitions with Behcet disease
    • Mizuki N, Ota M, Kimura M, Ohno S, Ando H, Katsuyama Y et al. Triplet repeat polymorphism in the transmembrane region of the MICA gene: a strong association of six GCT repetitions with Behcet disease. Proc Natl Acad Sci USA 1997; 94: 1298-1303.
    • (1997) Proc Natl Acad Sci USA , vol.94 , pp. 1298-1303
    • Mizuki, N.1    Ota, M.2    Kimura, M.3    Ohno, S.4    Ando, H.5    Katsuyama, Y.6
  • 39
    • 0036594949 scopus 로고    scopus 로고
    • Association of MICA polymorphism with HLA-B51 and disease severity in Korean patients with Behcet's disease
    • Park SH, Park KS, Seo YI, Min DJ, Kim WU, Kim TG et al. Association of MICA polymorphism with HLA-B51 and disease severity in Korean patients with Behcet's disease. J Korean Med Sci 2002; 17: 366-370.
    • (2002) J Korean Med Sci , vol.17 , pp. 366-370
    • Park, S.H.1    Park, K.S.2    Seo, Y.I.3    Min, D.J.4    Kim, W.U.5    Kim, T.G.6
  • 40
    • 78751694243 scopus 로고    scopus 로고
    • IFN-alpha blocks IL-17 production by peripheral blood mononuclear cells in Behcet's disease
    • (Oxford)
    • Liu X, Yang P, Wang C, Li F, Kijlstra A. IFN-alpha blocks IL-17 production by peripheral blood mononuclear cells in Behcet's disease. Rheumatology (Oxford) 2011; 50: 293-298.
    • (2011) Rheumatology , vol.50 , pp. 293-298
    • Liu, X.1    Yang, P.2    Wang, C.3    Li, F.4    Kijlstra, A.5


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