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Volumn 69, Issue 5, 2017, Pages 1054-1066

Identification of Functional and Expression Polymorphisms Associated With Risk for Antineutrophil Cytoplasmic Autoantibody–Associated Vasculitis

(44)  Merkel, Peter A a   Xie, Gang b   Monach, Paul A c   Ji, Xuemei d   Ciavatta, Dominic J e   Byun, Jinyoung d   Pinder, Benjamin D b   Zhao, Ai b   Zhang, Jinyi f   Tadesse, Yohannes b   Qian, David d   Weirauch, Matthew g   Nair, Rajan h   Tsoi, Alex h   Pagnoux, Christian i   Carette, Simon i   Chung, Sharon j   Cuthbertson, David k   Davis, John C j   Dellaripa, Paul F l   more..


Author keywords

[No Author keywords available]

Indexed keywords

HLA ANTIGEN; HLA DP ANTIGEN; HLA DPA1 ANTIGEN; HLA DPB1 ANTIGEN; HLA DQA1 ANTIGEN; HLA DQA2 ANTIGEN; HLA DQB1 ANTIGEN; MYELOBLASTIN; NON RECEPTOR PROTEIN TYROSINE PHOSPHATASE 22; PROTEIN; PRTN3 PROTEIN; SERPINA1 PROTEIN; UNCLASSIFIED DRUG; ALPHA 1 ANTITRYPSIN; AUTOANTIGEN; HLA-DPB1 ANTIGEN; PEROXIDASE; PTPN22 PROTEIN, HUMAN; SERPINA1 PROTEIN, HUMAN;

EID: 85017470718     PISSN: 23265191     EISSN: 23265205     Source Type: Journal    
DOI: 10.1002/art.40034     Document Type: Article
Times cited : (132)

References (39)
  • 1
    • 84883253741 scopus 로고    scopus 로고
    • Association of granulomatosis with polyangiitis (Wegener's) with HLA–DPB1*04 and SEMA6A gene variants: evidence from genome-wide analysis
    • Xie G, Roshandel D, Sherva R, Monach PA, Lu EY, Kung T, et al. Association of granulomatosis with polyangiitis (Wegener's) with HLA–DPB1*04 and SEMA6A gene variants: evidence from genome-wide analysis. Arthritis Rheum 2013;65:2457–68.
    • (2013) Arthritis Rheum , vol.65 , pp. 2457-2468
    • Xie, G.1    Roshandel, D.2    Sherva, R.3    Monach, P.A.4    Lu, E.Y.5    Kung, T.6
  • 3
    • 0024996455 scopus 로고
    • The American College of Rheumatology 1990 criteria for the classification of vasculitis: summary
    • Fries JF, Hunder GG, Bloch DA, Michel BA, Arend WP, Calabrese LH, et al. The American College of Rheumatology 1990 criteria for the classification of vasculitis: summary. Arthritis Rheum 1990;33:1135–6.
    • (1990) Arthritis Rheum , vol.33 , pp. 1135-1136
    • Fries, J.F.1    Hunder, G.G.2    Bloch, D.A.3    Michel, B.A.4    Arend, W.P.5    Calabrese, L.H.6
  • 4
    • 81955167912 scopus 로고    scopus 로고
    • Design and coverage of high throughput genotyping arrays optimized for individuals of East Asian, African American, and Latino race/ethnicity using imputation and a novel hybrid SNP selection algorithm
    • Hoffmann TJ, Zhan Y, Kvale MN, Hesselson SE, Gollub J, Iribarren C, et al. Design and coverage of high throughput genotyping arrays optimized for individuals of East Asian, African American, and Latino race/ethnicity using imputation and a novel hybrid SNP selection algorithm. Genomics 2011;98:422–30.
    • (2011) Genomics , vol.98 , pp. 422-430
    • Hoffmann, T.J.1    Zhan, Y.2    Kvale, M.N.3    Hesselson, S.E.4    Gollub, J.5    Iribarren, C.6
  • 5
    • 84939422197 scopus 로고    scopus 로고
    • Characterizing race/ethnicity and genetic ancestry for 100,000 subjects in the Genetic Epidemiology Research on Adult Health and Aging (GERA) cohort
    • Banda Y, Kvale MN, Hoffmann TJ, Hesselson SE, Ranatunga D, Tang H, et al. Characterizing race/ethnicity and genetic ancestry for 100,000 subjects in the Genetic Epidemiology Research on Adult Health and Aging (GERA) cohort. Genetics 2015;200:1285–95.
    • (2015) Genetics , vol.200 , pp. 1285-1295
    • Banda, Y.1    Kvale, M.N.2    Hoffmann, T.J.3    Hesselson, S.E.4    Ranatunga, D.5    Tang, H.6
  • 7
    • 77955894071 scopus 로고    scopus 로고
    • METAL: fast and efficient meta-analysis of genomewide association scans
    • Willer CJ, Li Y, Abecasis GR. METAL: fast and efficient meta-analysis of genomewide association scans. Bioinformatics 2010;26:2190–1.
    • (2010) Bioinformatics , vol.26 , pp. 2190-2191
    • Willer, C.J.1    Li, Y.2    Abecasis, G.R.3
  • 8
    • 79952489475 scopus 로고    scopus 로고
    • Estimating missing heritability for disease from genome-wide association studies
    • Lee SH, Wray NR, Goddard ME, Visscher PM. Estimating missing heritability for disease from genome-wide association studies. Am J Hum Genet 2011;88:294–305.
    • (2011) Am J Hum Genet , vol.88 , pp. 294-305
    • Lee, S.H.1    Wray, N.R.2    Goddard, M.E.3    Visscher, P.M.4
  • 9
    • 67651222400 scopus 로고    scopus 로고
    • A flexible and accurate genotype imputation method for the next generation of genome-wide association studies
    • Howie BN, Donnelly P, Marchini J. A flexible and accurate genotype imputation method for the next generation of genome-wide association studies. PLoS Genet 2009;5:e1000529.
    • (2009) PLoS Genet , vol.5
    • Howie, B.N.1    Donnelly, P.2    Marchini, J.3
  • 11
    • 84923326765 scopus 로고    scopus 로고
    • Genetic and epigenetic fine mapping of causal autoimmune disease variants
    • Farh KK, Marson A, Zhu J, Kleinewietfeld M, Housley WJ, Beik S, et al. Genetic and epigenetic fine mapping of causal autoimmune disease variants. Nature 2015;518:337–43.
    • (2015) Nature , vol.518 , pp. 337-343
    • Farh, K.K.1    Marson, A.2    Zhu, J.3    Kleinewietfeld, M.4    Housley, W.J.5    Beik, S.6
  • 12
    • 77957232748 scopus 로고    scopus 로고
    • Genevar: a database and Java application for the analysis and visualization of SNP-gene associations in eQTL studies
    • Yang TP, Beazley C, Montgomery SB, Dimas AS, Gutierrez-Arcelus M, Stranger BE, et al. Genevar: a database and Java application for the analysis and visualization of SNP-gene associations in eQTL studies. Bioinformatics 2010;26:2474–6.
    • (2010) Bioinformatics , vol.26 , pp. 2474-2476
    • Yang, T.P.1    Beazley, C.2    Montgomery, S.B.3    Dimas, A.S.4    Gutierrez-Arcelus, M.5    Stranger, B.E.6
  • 16
    • 0033673104 scopus 로고    scopus 로고
    • Proteinase 3 gene polymorphisms and Wegener's granulomatosis
    • Gencik M, Meller S, Borgmann S, Fricke H. Proteinase 3 gene polymorphisms and Wegener's granulomatosis. Kidney Int 2000;58:2473–7.
    • (2000) Kidney Int , vol.58 , pp. 2473-2477
    • Gencik, M.1    Meller, S.2    Borgmann, S.3    Fricke, H.4
  • 17
    • 0036707876 scopus 로고    scopus 로고
    • Neutrophil membrane expression of proteinase 3 (PR3) is related to relapse in PR3-ANCA-associated vasculitis
    • Rarok AA, Stegeman CA, Limburg PC, Kallenberg CG. Neutrophil membrane expression of proteinase 3 (PR3) is related to relapse in PR3-ANCA-associated vasculitis. J Am Soc Nephrol 2002;13:2232–8.
    • (2002) J Am Soc Nephrol , vol.13 , pp. 2232-2238
    • Rarok, A.A.1    Stegeman, C.A.2    Limburg, P.C.3    Kallenberg, C.G.4
  • 18
    • 84936891410 scopus 로고    scopus 로고
    • Heterogeneity of autoimmune diseases: pathophysiologic insights from genetics and implications for new therapies
    • Cho JH, Feldman M. Heterogeneity of autoimmune diseases: pathophysiologic insights from genetics and implications for new therapies. Nat Med 2015;21:730–8.
    • (2015) Nat Med , vol.21 , pp. 730-738
    • Cho, J.H.1    Feldman, M.2
  • 19
    • 84926262586 scopus 로고    scopus 로고
    • A large-scale genetic analysis reveals a strong contribution of the HLA class II region to giant cell arteritis susceptibility
    • Carmona FD, Mackie SL, Martin JE, Taylor JC, Vaglio A, Eyre S, et al. A large-scale genetic analysis reveals a strong contribution of the HLA class II region to giant cell arteritis susceptibility. Am J Hum Genet 2015;96:565–80.
    • (2015) Am J Hum Genet , vol.96 , pp. 565-580
    • Carmona, F.D.1    Mackie, S.L.2    Martin, J.E.3    Taylor, J.C.4    Vaglio, A.5    Eyre, S.6
  • 21
    • 84869068940 scopus 로고    scopus 로고
    • Meta-analysis of genetic polymorphisms in granulomatosis with polyangiitis (Wegener's) reveals shared susceptibility loci with rheumatoid arthritis
    • Chung SA, Xie G, Roshandel D, Sherva R, Edberg JC, Kravitz M, et al. Meta-analysis of genetic polymorphisms in granulomatosis with polyangiitis (Wegener's) reveals shared susceptibility loci with rheumatoid arthritis. Arthritis Rheum 2012;64:3463–71.
    • (2012) Arthritis Rheum , vol.64 , pp. 3463-3471
    • Chung, S.A.1    Xie, G.2    Roshandel, D.3    Sherva, R.4    Edberg, J.C.5    Kravitz, M.6
  • 22
    • 0242417045 scopus 로고    scopus 로고
    • Functional analysis of HLA-DP polymorphism: a crucial role for DPβ residues 9, 11, 35, 55, 56, 69 and 84-87 in T cell allorecognition and peptide binding
    • Diaz G, Amicosante M, Jaraquemada D, Butler RH, Guillen MV, Sanchez M, et al. Functional analysis of HLA-DP polymorphism: a crucial role for DPβ residues 9, 11, 35, 55, 56, 69 and 84-87 in T cell allorecognition and peptide binding. Int Immunol 2003;15:565–76.
    • (2003) Int Immunol , vol.15 , pp. 565-576
    • Diaz, G.1    Amicosante, M.2    Jaraquemada, D.3    Butler, R.H.4    Guillen, M.V.5    Sanchez, M.6
  • 23
    • 80052239824 scopus 로고    scopus 로고
    • The autoimmune disease-associated PTPN22 variant promotes calpain-mediated Lyp/Pep degradation associated with lymphocyte and dendritic cell hyperresponsiveness
    • Zhang J, Zahir N, Jiang Q, Miliotis H, Heyraud S, Meng X, et al. The autoimmune disease-associated PTPN22 variant promotes calpain-mediated Lyp/Pep degradation associated with lymphocyte and dendritic cell hyperresponsiveness. Nat Genet 2011;43:902–7.
    • (2011) Nat Genet , vol.43 , pp. 902-907
    • Zhang, J.1    Zahir, N.2    Jiang, Q.3    Miliotis, H.4    Heyraud, S.5    Meng, X.6
  • 24
    • 84878682420 scopus 로고    scopus 로고
    • The Genotype-Tissue Expression (GTEx) project
    • The GTEx Consortium. The Genotype-Tissue Expression (GTEx) project. Nat Genet 2013;45:580–5.
    • (2013) Nat Genet , vol.45 , pp. 580-585
  • 25
    • 3543052882 scopus 로고    scopus 로고
    • Circumvention of normal constraints on granule protein gene expression in peripheral blood neutrophils and monocytes of patients with antineutrophil cytoplasmic autoantibody-associated glomerulonephritis
    • Yang JJ, Pendergraft WF, Alcorta DA, Nachman PH, Hogan SL, Thomas RP, et al. Circumvention of normal constraints on granule protein gene expression in peripheral blood neutrophils and monocytes of patients with antineutrophil cytoplasmic autoantibody-associated glomerulonephritis. J Am Soc Nephrol 2004;15:2103–14.
    • (2004) J Am Soc Nephrol , vol.15 , pp. 2103-2114
    • Yang, J.J.1    Pendergraft, W.F.2    Alcorta, D.A.3    Nachman, P.H.4    Hogan, S.L.5    Thomas, R.P.6
  • 26
    • 18944395866 scopus 로고    scopus 로고
    • In silico identification of supertypes for class II MHCs
    • Doytchinova IA, Flower DR. In silico identification of supertypes for class II MHCs. J Immunol 2005;174:7085–95.
    • (2005) J Immunol , vol.174 , pp. 7085-7095
    • Doytchinova, I.A.1    Flower, D.R.2
  • 28
    • 84864000906 scopus 로고    scopus 로고
    • A novel variant marking HLA-DP expression levels predicts recovery from hepatitis B virus infection
    • Thomas R, Thio CL, Apps R, Qi Y, Gao X, Marti D, et al. A novel variant marking HLA-DP expression levels predicts recovery from hepatitis B virus infection. J Virol 2012;86:6979–85.
    • (2012) J Virol , vol.86 , pp. 6979-6985
    • Thomas, R.1    Thio, C.L.2    Apps, R.3    Qi, Y.4    Gao, X.5    Marti, D.6
  • 30
    • 0034536134 scopus 로고    scopus 로고
    • In vitro T lymphocyte responses to proteinase 3 (PR3) and linear peptides of PR3 in patients with Wegener's granulomatosis (WG)
    • Van der Geld YM, Huitema MG, Franssen CF, van der Zee R, Limburg PC, Kallenberg CG. In vitro T lymphocyte responses to proteinase 3 (PR3) and linear peptides of PR3 in patients with Wegener's granulomatosis (WG). Clin Exp Immunol 2000;122:504–13.
    • (2000) Clin Exp Immunol , vol.122 , pp. 504-513
    • Van der Geld, Y.M.1    Huitema, M.G.2    Franssen, C.F.3    van der Zee, R.4    Limburg, P.C.5    Kallenberg, C.G.6
  • 31
    • 0346098116 scopus 로고    scopus 로고
    • Frequency of proteinase 3 (PR3)-specific autoreactive T cells determined by cytokine flow cytometry in Wegener's granulomatosis
    • Winek J, Mueller A, Csernok E, Gross WL, Lamprecht P. Frequency of proteinase 3 (PR3)-specific autoreactive T cells determined by cytokine flow cytometry in Wegener's granulomatosis. J Autoimmun 2004;22:79–85.
    • (2004) J Autoimmun , vol.22 , pp. 79-85
    • Winek, J.1    Mueller, A.2    Csernok, E.3    Gross, W.L.4    Lamprecht, P.5
  • 32
    • 0036068953 scopus 로고    scopus 로고
    • In vitro cytokine production and proliferation of T cells from patients with anti–proteinase 3– and antimyeloperoxidase-associated vasculitis, in response to proteinase 3 and myeloperoxidase
    • Popa ER, Franssen CF, Limburg PC, Huitema MG, Kallenberg CG, Tervaert JW. In vitro cytokine production and proliferation of T cells from patients with anti–proteinase 3– and antimyeloperoxidase-associated vasculitis, in response to proteinase 3 and myeloperoxidase. Arthritis Rheum 2002;46:1894–904.
    • (2002) Arthritis Rheum , vol.46 , pp. 1894-1904
    • Popa, E.R.1    Franssen, C.F.2    Limburg, P.C.3    Huitema, M.G.4    Kallenberg, C.G.5    Tervaert, J.W.6
  • 33
    • 1842508029 scopus 로고    scopus 로고
    • Autoimmunity is triggered by cPR-3(105–201), a protein complementary to human autoantigen proteinase-3
    • Pendergraft WF III, Preston GA, Shah RR, Tropsha A, Carter CW Jr, Jennette JC, et al. Autoimmunity is triggered by cPR-3(105–201), a protein complementary to human autoantigen proteinase-3. Nat Med 2004;10:72–9.
    • (2004) Nat Med , vol.10 , pp. 72-79
    • Pendergraft, W.F.1    Preston, G.A.2    Shah, R.R.3    Tropsha, A.4    Carter, C.W.5    Jennette, J.C.6
  • 34
    • 33744490073 scopus 로고    scopus 로고
    • Wegener autoantigen induces maturation of dendritic cells and licenses them for Th1 priming via the protease-activated receptor-2 pathway
    • Csernok E, Ai M, Gross WL, Wicklein D, Petersen A, Lindner B, et al. Wegener autoantigen induces maturation of dendritic cells and licenses them for Th1 priming via the protease-activated receptor-2 pathway. Blood 2006;107:4440–8.
    • (2006) Blood , vol.107 , pp. 4440-4448
    • Csernok, E.1    Ai, M.2    Gross, W.L.3    Wicklein, D.4    Petersen, A.5    Lindner, B.6
  • 35
    • 53949116373 scopus 로고    scopus 로고
    • ANCA patients have T cells responsive to complementary PR-3 antigen
    • Yang J, Bautz DJ, Lionaki S, Hogan SL, Chin H, Tisch RM, et al. ANCA patients have T cells responsive to complementary PR-3 antigen. Kidney Int 2008;74:1159–69.
    • (2008) Kidney Int , vol.74 , pp. 1159-1169
    • Yang, J.1    Bautz, D.J.2    Lionaki, S.3    Hogan, S.L.4    Chin, H.5    Tisch, R.M.6
  • 36
    • 84905666024 scopus 로고    scopus 로고
    • Estimation and partitioning of (co)heritability of inflammatory bowel disease from GWAS and immunochip data
    • Chen GB, Lee SH, Brion MJ, Montgomery GW, Wray NR, Radford-Smith GL, et al. Estimation and partitioning of (co)heritability of inflammatory bowel disease from GWAS and immunochip data. Hum Mol Genet 2014;23:4710–20.
    • (2014) Hum Mol Genet , vol.23 , pp. 4710-4720
    • Chen, G.B.1    Lee, S.H.2    Brion, M.J.3    Montgomery, G.W.4    Wray, N.R.5    Radford-Smith, G.L.6
  • 37
    • 0037789214 scopus 로고    scopus 로고
    • Inhibition of proteinase 3 by α1-antitrypsin in vitro predicts very fast inhibition in vivo
    • Duranton J, Bieth JG. Inhibition of proteinase 3 by α1-antitrypsin in vitro predicts very fast inhibition in vivo. Am J Respir Cell Mol Biol 2003;29:57–61.
    • (2003) Am J Respir Cell Mol Biol , vol.29 , pp. 57-61
    • Duranton, J.1    Bieth, J.G.2
  • 38
    • 77956370874 scopus 로고    scopus 로고
    • Epigenetic basis for aberrant upregulation of autoantigen genes in humans with ANCA vasculitis
    • Ciavatta DJ, Yang J, Preston GA, Badhwar AK, Xiao H, Hewins P, et al. Epigenetic basis for aberrant upregulation of autoantigen genes in humans with ANCA vasculitis. J Clin Invest 2010;120:3209–19.
    • (2010) J Clin Invest , vol.120 , pp. 3209-3219
    • Ciavatta, D.J.1    Yang, J.2    Preston, G.A.3    Badhwar, A.K.4    Xiao, H.5    Hewins, P.6
  • 39
    • 84862956330 scopus 로고    scopus 로고
    • IgA and IgG antineutrophil cytoplasmic antibody engagement of Fc receptor genetic variants influences granulomatosis with polyangiitis
    • Kelley JM, Monach PA, Ji C, Zhou Y, Wu J, Tanaka S, et al. IgA and IgG antineutrophil cytoplasmic antibody engagement of Fc receptor genetic variants influences granulomatosis with polyangiitis. Proc Natl Acad Sci U S A 2011;108:20736–41.
    • (2011) Proc Natl Acad Sci U S A , vol.108 , pp. 20736-20741
    • Kelley, J.M.1    Monach, P.A.2    Ji, C.3    Zhou, Y.4    Wu, J.5    Tanaka, S.6


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