메뉴 건너뛰기




Volumn 49, Issue 7, 2010, Pages 1239-1244

Non-synonymous variant (Gly307Ser) in CD226 is associated with susceptibility to multiple autoimmune diseases

Author keywords

Asia; Autoimmunity; CD226; Latin America

Indexed keywords

CD226 PROTEIN; CHROMOSOME PROTEIN; UNCLASSIFIED DRUG;

EID: 77954208061     PISSN: 14620324     EISSN: 14620332     Source Type: Journal    
DOI: 10.1093/rheumatology/kep470     Document Type: Article
Times cited : (67)

References (44)
  • 1
    • 71249130102 scopus 로고    scopus 로고
    • Replication of recently identified associated SNPs from 6 autoimmune diseases in GAW16 RA data
    • Deshmukh H, Kim-Howard X, Nath SK. Replication of recently identified associated SNPs from 6 autoimmune diseases in GAW16 RA data. BMC Proc 2009; Suppl. 7:831.
    • (2009) BMC Proc , vol.SUPPL 7 , pp. 831
    • Deshmukh, H.1    Kim-Howard, X.2    Nath, S.K.3
  • 2
    • 58149333555 scopus 로고    scopus 로고
    • Autoimmune diseases: insights from genome-wide association studies
    • Lettre G, Rioux JD. Autoimmune diseases: insights from genome-wide association studies. Hum Mol Genet 2008; 17:R116-21.
    • (2008) Hum Mol Genet , vol.17
    • Lettre, G.1    Rioux, J.D.2
  • 3
    • 36549003138 scopus 로고    scopus 로고
    • Two independent alleles at 6q23 associated with risk of rheumatoid arthritis
    • Plenge RM, Cotsapas C, Davies L et al. Two independent alleles at 6q23 associated with risk of rheumatoid arthritis. Nat Genet 2007;39:1477-82.
    • (2007) Nat Genet , vol.39 , pp. 1477-1482
    • Plenge, R.M.1    Cotsapas, C.2    Davies, L.3
  • 4
    • 34548427925 scopus 로고    scopus 로고
    • STAT4 and the risk of rheumatoid arthritis and systemic lupus erythematosus
    • Remmers EF, Plenge RM, Lee AT et al. STAT4 and the risk of rheumatoid arthritis and systemic lupus erythematosus. N Engl J Med 2007;357:977-86.
    • (2007) N Engl J Med , vol.357 , pp. 977-986
    • Remmers, E.F.1    Plenge, R.M.2    Lee, A.T.3
  • 5
    • 36549005027 scopus 로고    scopus 로고
    • Rheumatoid arthritis association at 6q23
    • Thomson W, Barton A, Ke X et al. Rheumatoid arthritis association at 6q23. Nat Genet 2007;39:1431-3.
    • (2007) Nat Genet , vol.39 , pp. 1431-1433
    • Thomson, W.1    Barton, A.2    Ke, X.3
  • 6
    • 50449111452 scopus 로고    scopus 로고
    • Genetic variants near TNFAIP3 on 6q23 are associated with systemic lupus erythematosus
    • Graham RR, Cotsapas C, Davies L et al. Genetic variants near TNFAIP3 on 6q23 are associated with systemic lupus erythematosus. Nat Genet 2008;40:1059-61.
    • (2008) Nat Genet , vol.40 , pp. 1059-1061
    • Graham, R.R.1    Cotsapas, C.2    Davies, L.3
  • 7
    • 50449103533 scopus 로고    scopus 로고
    • Multiple polymorphisms in the TNFAIP3 region are independently associated with systemic lupus erythematosus
    • Musone SL, Taylor KE, Lu TT et al. Multiple polymorphisms in the TNFAIP3 region are independently associated with systemic lupus erythematosus. Nat Genet 2008;40: 1062-4.
    • (2008) Nat Genet , vol.40 , pp. 1062-1064
    • Musone, S.L.1    Taylor, K.E.2    Lu, T.T.3
  • 8
    • 61849117976 scopus 로고    scopus 로고
    • Analysis of 17 autoimmune disease-associated variants in type 1 diabetes identifies 6q23/TNFAIP3 as a susceptibility locus
    • Fung EY, Smyth DJ, Howson JM et al. Analysis of 17 autoimmune disease-associated variants in type 1 diabetes identifies 6q23/TNFAIP3 as a susceptibility locus. Genes Immun 2009;10:188-91.
    • (2009) Genes Immun , vol.10 , pp. 188-191
    • Fung, E.Y.1    Smyth, D.J.2    Howson, J.M.3
  • 9
    • 67650143369 scopus 로고    scopus 로고
    • Recent progress in rheumatoid arthritis genetics: one step towards improved patient care
    • Plenge RM. Recent progress in rheumatoid arthritis genetics: one step towards improved patient care. Curr Opin Rheumatol 2009;21:262-71.
    • (2009) Curr Opin Rheumatol , vol.21 , pp. 262-271
    • Plenge, R.M.1
  • 10
    • 33845578510 scopus 로고    scopus 로고
    • The PTPN22 C1858T functional polymorphism and autoimmune diseases-a meta-analysis
    • Lee YH, Rho YH, Choi SJ et al. The PTPN22 C1858T functional polymorphism and autoimmune diseases-a meta-analysis. Rheumatology 2007;46:49-56.
    • (2007) Rheumatology , vol.46 , pp. 49-56
    • Lee, Y.H.1    Rho, Y.H.2    Choi, S.J.3
  • 11
    • 28144441356 scopus 로고    scopus 로고
    • Replication of putative candidate-gene associations with rheumatoid arthritis in >4000 samples from North America and Sweden: association of susceptibility with PTPN22, CTLA4, and PADI4
    • Plenge RM, Padyukov L, Remmers EF et al. Replication of putative candidate-gene associations with rheumatoid arthritis in >4000 samples from North America and Sweden: association of susceptibility with PTPN22, CTLA4, and PADI4. Am J Hum Genet 2005;77:1044-60.
    • (2005) Am J Hum Genet , vol.77 , pp. 1044-1060
    • Plenge, R.M.1    Padyukov, L.2    Remmers, E.F.3
  • 12
    • 3242713277 scopus 로고    scopus 로고
    • A missense single-nucleotide polymorphism in a gene encoding a protein tyrosine phosphatase (PTPN22) is associated with rheumatoid arthritis
    • Begovich AB, Carlton VE, Honigberg LA et al. A missense single-nucleotide polymorphism in a gene encoding a protein tyrosine phosphatase (PTPN22) is associated with rheumatoid arthritis. Am J Hum Genet 2004;75:330-7.
    • (2004) Am J Hum Genet , vol.75 , pp. 330-337
    • Begovich, A.B.1    Carlton, V.E.2    Honigberg, L.A.3
  • 13
    • 4143105691 scopus 로고    scopus 로고
    • Genetic association of the R620W polymorphism of protein tyrosine phosphatase PTPN22 with human SLE
    • Kyogoku C, Langefeld CD, Ortmann WA et al. Genetic association of the R620W polymorphism of protein tyrosine phosphatase PTPN22 with human SLE. Am J Hum Genet 2004;75:504-7.
    • (2004) Am J Hum Genet , vol.75 , pp. 504-507
    • Kyogoku, C.1    Langefeld, C.D.2    Ortmann, W.A.3
  • 14
    • 11144266638 scopus 로고    scopus 로고
    • Association of the single nucleotide polymorphism C1858T of the PTPN22 gene with type 1 diabetes
    • Ladner MB, Bottini N, Valdes AM, Noble JA. Association of the single nucleotide polymorphism C1858T of the PTPN22 gene with type 1 diabetes. Hum Immunol 2005; 66:60-4.
    • (2005) Hum Immunol , vol.66 , pp. 60-64
    • Ladner, M.B.1    Bottini, N.2    Valdes, A.M.3    Noble, J.A.4
  • 15
    • 13844292408 scopus 로고    scopus 로고
    • Polymorphisms in the tyrosine kinase 2 and interferon regulatory factor 5 genes are associated with systemic lupus erythematosus
    • Sigurdsson S, Nordmark G, Goring HH et al. Polymorphisms in the tyrosine kinase 2 and interferon regulatory factor 5 genes are associated with systemic lupus erythematosus. Am J Hum Genet 2005;76:528-37.
    • (2005) Am J Hum Genet , vol.76 , pp. 528-537
    • Sigurdsson, S.1    Nordmark, G.2    Goring, H.H.3
  • 16
    • 33646368404 scopus 로고    scopus 로고
    • A common haplotype of interferon regulatory factor 5 (IRF5) regulates splicing and expression and is associated with increased risk of systemic lupus erythematosus
    • Graham RR, Kozyrev SV, Baechler EC et al. A common haplotype of interferon regulatory factor 5 (IRF5) regulates splicing and expression and is associated with increased risk of systemic lupus erythematosus. Nat Genet 2006;38: 550-5.
    • (2006) Nat Genet , vol.38 , pp. 550-555
    • Graham, R.R.1    Kozyrev, S.V.2    Baechler, E.C.3
  • 17
    • 34547492359 scopus 로고    scopus 로고
    • Association of a haplotype in the promoter region of the interferon regulatory factor 5 gene with rheumatoid arthritis
    • Sigurdsson S, Padyukov L, Kurreeman FA et al. Association of a haplotype in the promoter region of the interferon regulatory factor 5 gene with rheumatoid arthritis. Arthritis Rheum 2007;56:2202-10.
    • (2007) Arthritis Rheum , vol.56 , pp. 2202-2210
    • Sigurdsson, S.1    Padyukov, L.2    Kurreeman, F.A.3
  • 18
    • 34347341846 scopus 로고    scopus 로고
    • Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes
    • Todd JA, Walker NM, Cooper JD et al. Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes. Nat Genet 2007;39:857-64.
    • (2007) Nat Genet , vol.39 , pp. 857-864
    • Todd, J.A.1    Walker, N.M.2    Cooper, J.D.3
  • 19
    • 58149091678 scopus 로고    scopus 로고
    • Shared and distinct genetic variants in type 1 diabetes and celiac disease
    • Smyth DJ, Plagnol V, Walker NM et al. Shared and distinct genetic variants in type 1 diabetes and celiac disease. N Engl J Med 2008;359:2767-77.
    • (2008) N Engl J Med , vol.359 , pp. 2767-2777
    • Smyth, D.J.1    Plagnol, V.2    Walker, N.M.3
  • 20
    • 59149098926 scopus 로고    scopus 로고
    • CD226 Gly307Ser association with multiple autoimmune diseases
    • Hafler JP, Maier LM, Cooper JD et al. CD226 Gly307Ser association with multiple autoimmune diseases. Genes Immun 2009;10:5-10.
    • (2009) Genes Immun , vol.10 , pp. 5-10
    • Hafler, J.P.1    Maier, L.M.2    Cooper, J.D.3
  • 21
    • 22544455033 scopus 로고    scopus 로고
    • CD226 is specifically expressed on the surface of Th1 cells and regulates their expansion and effector functions
    • Dardalhon V, Schubart AS, Reddy J et al. CD226 is specifically expressed on the surface of Th1 cells and regulates their expansion and effector functions. J Immunol 2005;175:1558-65.
    • (2005) J Immunol , vol.175 , pp. 1558-1565
    • Dardalhon, V.1    Schubart, A.S.2    Reddy, J.3
  • 22
    • 12444304178 scopus 로고    scopus 로고
    • CD226 expression deficiency causes high sensitivity to apoptosis in NK T cells from patients with systemic lupus erythematosus
    • Tao D, Shangwu L, Qun W et al. CD226 expression deficiency causes high sensitivity to apoptosis in NK T cells from patients with systemic lupus erythematosus. J Immunol 2005;174:1281-90.
    • (2005) J Immunol , vol.174 , pp. 1281-1290
    • Tao, D.1    Shangwu, L.2    Qun, W.3
  • 23
    • 38649108122 scopus 로고    scopus 로고
    • A nonsynonymous functional variant in integrin-alpha(M) (encoded by ITGAM) is associated with systemic lupus erythematosus
    • Nath SK, Han S, Kim-Howard X et al. A nonsynonymous functional variant in integrin-alpha(M) (encoded by ITGAM) is associated with systemic lupus erythematosus. Nat Genet 2008;40:152-4.
    • (2008) Nat Genet , vol.40 , pp. 152-154
    • Nath, S.K.1    Han, S.2    Kim-Howard, X.3
  • 24
    • 61849093275 scopus 로고    scopus 로고
    • Evaluation of imputation-based association in and around the integrin-alpha-M (ITGAM) gene and replication of robust association between a non-synonymous functional variant within itgam and systemic lupus erythematosus (SLE)
    • Han S, Kim-Howard X, Deshmukh H et al. Evaluation of imputation-based association in and around the integrin-alpha-M (ITGAM) gene and replication of robust association between a non-synonymous functional variant within itgam and systemic lupus erythematosus (SLE). Hum Mol Genet 2009;18:1171-80.
    • (2009) Hum Mol Genet , vol.18 , pp. 1171-1180
    • Han, S.1    Kim-Howard, X.2    Deshmukh, H.3
  • 25
    • 33750218666 scopus 로고    scopus 로고
    • Haplotype analysis revealed no association between the PTPN22 gene and RA in a Japanese population
    • Ikari K, Momohara S, Inoue E et al. Haplotype analysis revealed no association between the PTPN22 gene and RA in a Japanese population. Rheumatology 2006;45: 1345-8.
    • (2006) Rheumatology , vol.45 , pp. 1345-1348
    • Ikari, K.1    Momohara, S.2    Inoue, E.3
  • 26
    • 56449117340 scopus 로고    scopus 로고
    • Different genetic effects of interferon regulatory factor 5 (IRF5) polymorphisms on systemic lupus erythematosus in a Korean population
    • Shin HD, Kim I, Choi CB, Lee SO, Lee HW, Bae SC. Different genetic effects of interferon regulatory factor 5 (IRF5) polymorphisms on systemic lupus erythematosus in a Korean population. J Rheumatol 2008;35:2148-51.
    • (2008) J Rheumatol , vol.35 , pp. 2148-2151
    • Shin, H.D.1    Kim, I.2    Choi, C.B.3    Lee, S.O.4    Lee, H.W.5    Bae, S.C.6
  • 27
    • 66449100302 scopus 로고    scopus 로고
    • Association of a functional polymorphism in the IRF5 region with systemic sclerosis in a Japanese population
    • Ito I, Kawaguchi Y, Kawasaki A et al. Association of a functional polymorphism in the IRF5 region with systemic sclerosis in a Japanese population. Arthritis Rheum 2009; 60:1845-50.
    • (2009) Arthritis Rheum , vol.60 , pp. 1845-1850
    • Ito, I.1    Kawaguchi, Y.2    Kawasaki, A.3
  • 28
    • 43249119095 scopus 로고    scopus 로고
    • Defining the role of the MHC in autoimmunity: a review and pooled analysis
    • Fernando MM, Stevens CR, Walsh EC et al. Defining the role of the MHC in autoimmunity: a review and pooled analysis. PLoS Genet 2008;4:e1000024.
    • (2008) PLoS Genet , vol.4
    • Fernando, M.M.1    Stevens, C.R.2    Walsh, E.C.3
  • 29
    • 0026515461 scopus 로고
    • Gluten, major histocompatibility complex, and the small intestine. A molecular and immunobiologic approach to the spectrum of gluten sensitivity ('celiac sprue')
    • Marsh MN. Gluten, major histocompatibility complex, and the small intestine. A molecular and immunobiologic approach to the spectrum of gluten sensitivity ('celiac sprue'). Gastroenterology 1992;102:330-54.
    • (1992) Gastroenterology , vol.102 , pp. 330-354
    • Marsh, M.N.1
  • 30
    • 0023945481 scopus 로고
    • The American Rheumatism Association 1987 revised criteria for the classification of rheumatoid arthritis
    • Arnett FC, Edworthy SM, Bloch DA et al. The American Rheumatism Association 1987 revised criteria for the classification of rheumatoid arthritis. Arthritis Rheum 1988; 31:315-24.
    • (1988) Arthritis Rheum , vol.31 , pp. 315-324
    • Arnett, F.C.1    Edworthy, S.M.2    Bloch, D.A.3
  • 31
    • 0020436689 scopus 로고
    • The 1982 revised criteria for the classification of systemic lupus erythematosus
    • Tan EM, Cohen AS, Fries JF et al. The 1982 revised criteria for the classification of systemic lupus erythematosus. Arthritis Rheum 1982;25:1271-7.
    • (1982) Arthritis Rheum , vol.25 , pp. 1271-1277
    • Tan, E.M.1    Cohen, A.S.2    Fries, J.F.3
  • 32
    • 0036092482 scopus 로고    scopus 로고
    • Classification criteria for Sjogren's syndrome: a revised version of the European criteria proposed by the American-European consensus group
    • Vitali C, Bombardieri S, Jonsson R et al. Classification criteria for Sjogren's syndrome: a revised version of the European criteria proposed by the American-European consensus group. Ann Rheum Dis 2002;61:554-8.
    • (2002) Ann Rheum Dis , vol.61 , pp. 554-558
    • Vitali, C.1    Bombardieri, S.2    Jonsson, R.3
  • 34
    • 33646681230 scopus 로고    scopus 로고
    • Familial clustering of autoimmune diseases in patients with type 1 diabetes mellitus
    • Anaya JM, Castiblanco J, Tobon GJ et al. Familial clustering of autoimmune diseases in patients with type 1 diabetes mellitus. J Autoimmun 2006;26:208-14.
    • (2006) J Autoimmun , vol.26 , pp. 208-214
    • Anaya, J.M.1    Castiblanco, J.2    Tobon, G.J.3
  • 35
    • 0031229830 scopus 로고    scopus 로고
    • Updating the American College of Rheumatology revised criteria for the classification of systemic lupus erythematosus
    • Hochberg MC. Updating the American College of Rheumatology revised criteria for the classification of systemic lupus erythematosus. Arthritis Rheum 1997;40: 1725.
    • (1997) Arthritis Rheum , vol.40 , pp. 1725
    • Hochberg, M.C.1
  • 36
    • 34548292504 scopus 로고    scopus 로고
    • PLINK: a tool set for whole-genome association and population-based linkage analyses
    • Purcell S, Neale B, Todd-Brown K et al. PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet 2007;81:559-75.
    • (2007) Am J Hum Genet , vol.81 , pp. 559-575
    • Purcell, S.1    Neale, B.2    Todd-Brown, K.3
  • 37
    • 42049106461 scopus 로고    scopus 로고
    • Catmap: case-control and TDT meta-analysis package
    • Nicodemus KK. Catmap: case-control and TDT meta-analysis package. BMC Bioinformatics 2008;9:130.
    • (2008) BMC Bioinformatics , vol.9 , pp. 130
    • Nicodemus, K.K.1
  • 39
    • 31744435871 scopus 로고    scopus 로고
    • Joint analysis is more efficient than replication-based analysis for two-stage genome-wide association studies
    • Skol AD, Scott LJ, Abecasis GR, Boehnke M. Joint analysis is more efficient than replication-based analysis for two-stage genome-wide association studies. Nat Genet 2006;38:209-13.
    • (2006) Nat Genet , vol.38 , pp. 209-213
    • Skol, A.D.1    Scott, L.J.2    Abecasis, G.R.3    Boehnke, M.4
  • 40
    • 59149093148 scopus 로고    scopus 로고
    • The expanding genetic overlap between multiple sclerosis and type I diabetes
    • The expanding genetic overlap between multiple sclerosis and type I diabetes. Genes Immun 2009;10: 11-4.
    • (2009) Genes Immun , vol.10 , pp. 11-14
  • 41
    • 69949115526 scopus 로고    scopus 로고
    • Novel association of the CD226 (DNAM-1) Gly307Ser polymorphism in Wegener's granulomatosis and confirmation for multiple sclerosis in German patients
    • Wieczorek S, Hoffjan S, Chan A et al. Novel association of the CD226 (DNAM-1) Gly307Ser polymorphism in Wegener's granulomatosis and confirmation for multiple sclerosis in German patients. Genes Immun 2009;10: 591-5.
    • (2009) Genes Immun , vol.10 , pp. 591-595
    • Wieczorek, S.1    Hoffjan, S.2    Chan, A.3
  • 42
    • 0029856593 scopus 로고    scopus 로고
    • Polymorphisms and phyletic relationships of the Paisa community from Antioquia (Colombia)
    • Bravo ML, Valenzuela CY, Arcos-Burgos OM. Polymorphisms and phyletic relationships of the Paisa community from Antioquia (Colombia). Gene Geogr 1996; 10:11-7.
    • (1996) Gene Geogr , vol.10 , pp. 11-17
    • Bravo, M.L.1    Valenzuela, C.Y.2    Arcos-Burgos, O.M.3
  • 43
    • 84969213492 scopus 로고    scopus 로고
    • Genome-wide association study of 14,000 cases of sev-en common diseases and 3,000 shared controls
    • Wellcome Trust Case Control Consortium
    • Wellcome Trust Case Control Consortium. Genome-wide association study of 14,000 cases of sev-en common diseases and 3,000 shared controls. Nature 2007;447:661-78.
    • (2007) Nature , vol.447 , pp. 661-678
  • 44
    • 63149096066 scopus 로고    scopus 로고
    • Tumor necrosis factor-alpha is a common genetic risk factor for asthma, juvenile rheumatoid arthritis, and systemic lupus erythematosus in a Mexican pediatric population
    • Jimenez-Morales S, Velazquez-Cruz R, Ramirez-Bello J et al. Tumor necrosis factor-alpha is a common genetic risk factor for asthma, juvenile rheumatoid arthritis, and systemic lupus erythematosus in a Mexican pediatric population. Hum Immunol 2009;70:251-6.
    • (2009) Hum Immunol , vol.70 , pp. 251-256
    • Jimenez-Morales, S.1    Velazquez-Cruz, R.2    Ramirez-Bello, J.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.