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Volumn 145, Issue 2, 2013, Pages 339-347

Association between variants of PRDM1 and NDP52 and crohn's disease, based on exome sequencing and functional studies

(61)  Ellinghaus, David a   Zhang, Hu a,b   Zeissig, Sebastian b   Lipinski, Simone a   Till, Andreas b   Jiang, Tao c   Stade, Björn a   Bromberg, Yana d   Ellinghaus, Eva a   Keller, Andreas d   Rivas, Manuel A e,f,g   Skieceviciene, Jurgita h   Doncheva, Nadezhda T h   Liu, Xiao c   Liu, Qing c   Jiang, Fuman c   Forster, Michael a   Mayr, Gabriele i   Albrecht, Mario i,j   Häsler, Robert a   more..


Author keywords

Inflammatory Bowel Disease Whole Exome Sequencing Complex Disease

Indexed keywords

B LYMPHOCYTE INDUCED MATURATION PROTEIN 1; CYTOKINE; IMMUNOGLOBULIN ENHANCER BINDING PROTEIN; L SELECTIN; NDP52 PROTEIN; PROTEIN; TOLL LIKE RECEPTOR; UNCLASSIFIED DRUG;

EID: 84880617946     PISSN: 00165085     EISSN: 15280012     Source Type: Journal    
DOI: 10.1053/j.gastro.2013.04.040     Document Type: Article
Times cited : (127)

References (32)
  • 1
    • 48349136889 scopus 로고    scopus 로고
    • Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease
    • J.C. Barrett, S. Hansoul, and D.L. Nicolae Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease Nat Genet 40 2008 955 962
    • (2008) Nat Genet , vol.40 , pp. 955-962
    • Barrett, J.C.1    Hansoul, S.2    Nicolae, D.L.3
  • 2
    • 78649489009 scopus 로고    scopus 로고
    • Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci
    • A. Franke, D.P. McGovern, and J.C. Barrett Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci Nat Genet 42 2010 1118 1125
    • (2010) Nat Genet , vol.42 , pp. 1118-1125
    • Franke, A.1    McGovern, D.P.2    Barrett, J.C.3
  • 3
    • 84868336049 scopus 로고    scopus 로고
    • Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease
    • L. Jostins, S. Ripke, and R.K. Weersma Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease Nature 491 2012 119 124
    • (2012) Nature , vol.491 , pp. 119-124
    • Jostins, L.1    Ripke, S.2    Weersma, R.K.3
  • 4
    • 70349956433 scopus 로고    scopus 로고
    • Finding the missing heritability of complex diseases
    • T.A. Manolio, F.S. Collins, and N.J. Cox Finding the missing heritability of complex diseases Nature 461 2009 747 753
    • (2009) Nature , vol.461 , pp. 747-753
    • Manolio, T.A.1    Collins, F.S.2    Cox, N.J.3
  • 5
    • 80054746492 scopus 로고    scopus 로고
    • Exome sequencing as a tool for Mendelian disease gene discovery
    • M.J. Bamshad, S.B. Ng, and A.W. Bigham Exome sequencing as a tool for Mendelian disease gene discovery Nat Rev Genet 12 2011 745 755
    • (2011) Nat Rev Genet , vol.12 , pp. 745-755
    • Bamshad, M.J.1    Ng, S.B.2    Bigham, A.W.3
  • 6
    • 79959524146 scopus 로고    scopus 로고
    • A haplotype map of the human genome
    • A haplotype map of the human genome Nature 437 2005 1299 1320
    • (2005) Nature , vol.437 , pp. 1299-1320
  • 7
    • 65549098640 scopus 로고    scopus 로고
    • CD4 T-cell differentiation and inflammatory bowel disease
    • L.A. Zenewicz, A. Antov, and R.A. Flavell CD4 T-cell differentiation and inflammatory bowel disease Trends Mol Med 15 2009 199 207
    • (2009) Trends Mol Med , vol.15 , pp. 199-207
    • Zenewicz, L.A.1    Antov, A.2    Flavell, R.A.3
  • 8
    • 33846627302 scopus 로고    scopus 로고
    • A genome-wide association scan of nonsynonymous SNPs identifies a susceptibility variant for Crohn disease in ATG16L1
    • J. Hampe, A. Franke, and P. Rosenstiel A genome-wide association scan of nonsynonymous SNPs identifies a susceptibility variant for Crohn disease in ATG16L1 Nat Genet 39 2007 207 211
    • (2007) Nat Genet , vol.39 , pp. 207-211
    • Hampe, J.1    Franke, A.2    Rosenstiel, P.3
  • 9
    • 34247554965 scopus 로고    scopus 로고
    • Genome-wide association study identifies new susceptibility loci for Crohn disease and implicates autophagy in disease pathogenesis
    • J.D. Rioux, R.J. Xavier, and K.D. Taylor Genome-wide association study identifies new susceptibility loci for Crohn disease and implicates autophagy in disease pathogenesis Nat Genet 39 2007 596 604
    • (2007) Nat Genet , vol.39 , pp. 596-604
    • Rioux, J.D.1    Xavier, R.J.2    Taylor, K.D.3
  • 10
    • 34247566585 scopus 로고    scopus 로고
    • A Nonsynonymous SNP in ATG16L1 predisposes to ileal crohn's disease and is independent of CARD15 and IBD5
    • N.J. Prescott, S.A. Fisher, and A. Franke A Nonsynonymous SNP in ATG16L1 predisposes to ileal crohn's disease and is independent of CARD15 and IBD5 Gastroenterology 132 2007 1665 1671
    • (2007) Gastroenterology , vol.132 , pp. 1665-1671
    • Prescott, N.J.1    Fisher, S.A.2    Franke, A.3
  • 11
    • 34347338690 scopus 로고    scopus 로고
    • Sequence variants in the autophagy gene IRGM and multiple other replicating loci contribute to Crohn's disease susceptibility
    • M. Parkes, J.C. Barrett, and N.J. Prescott Sequence variants in the autophagy gene IRGM and multiple other replicating loci contribute to Crohn's disease susceptibility Nat Genet 39 2007 830 832
    • (2007) Nat Genet , vol.39 , pp. 830-832
    • Parkes, M.1    Barrett, J.C.2    Prescott, N.J.3
  • 12
    • 79955790354 scopus 로고    scopus 로고
    • Genetic variation in the autophagy gene ULK1 and risk of Crohn's disease
    • L. Henckaerts, I. Cleynen, and M. Brinar Genetic variation in the autophagy gene ULK1 and risk of Crohn's disease Inflamm Bowel Dis 17 2011 1392 1397
    • (2011) Inflamm Bowel Dis , vol.17 , pp. 1392-1397
    • Henckaerts, L.1    Cleynen, I.2    Brinar, M.3
  • 13
    • 0142219442 scopus 로고    scopus 로고
    • Blimp-1 is required for the formation of immunoglobulin secreting plasma cells and pre-plasma memory B cells
    • M. Shapiro-Shelef, K.I. Lin, and L.J. McHeyzer-Williams Blimp-1 is required for the formation of immunoglobulin secreting plasma cells and pre-plasma memory B cells Immunity 19 2003 607 620
    • (2003) Immunity , vol.19 , pp. 607-620
    • Shapiro-Shelef, M.1    Lin, K.I.2    McHeyzer-Williams, L.J.3
  • 14
    • 0032534726 scopus 로고    scopus 로고
    • Efficient lymphocyte migration across high endothelial venules of mouse Peyer's patches requires overlapping expression of L-selectin and beta7 integrin
    • D.A. Steeber, M.L. Tang, and X.Q. Zhang Efficient lymphocyte migration across high endothelial venules of mouse Peyer's patches requires overlapping expression of L-selectin and beta7 integrin J Immunol 161 1998 6638 6647
    • (1998) J Immunol , vol.161 , pp. 6638-6647
    • Steeber, D.A.1    Tang, M.L.2    Zhang, X.Q.3
  • 15
    • 0031597424 scopus 로고    scopus 로고
    • L-selectin and beta7 integrin synergistically mediate lymphocyte migration to mesenteric lymph nodes
    • N. Wagner, J. Lohler, and T.F. Tedder L-selectin and beta7 integrin synergistically mediate lymphocyte migration to mesenteric lymph nodes Eur J Immunol 28 1998 3832 3839
    • (1998) Eur J Immunol , vol.28 , pp. 3832-3839
    • Wagner, N.1    Lohler, J.2    Tedder, T.F.3
  • 16
    • 0028158113 scopus 로고
    • Aberrant binding of lamina propria lymphocytes to vascular endothelium in inflammatory bowel diseases
    • M. Salmi, K. Granfors, and R. MacDermott Aberrant binding of lamina propria lymphocytes to vascular endothelium in inflammatory bowel diseases Gastroenterology 106 1994 596 605
    • (1994) Gastroenterology , vol.106 , pp. 596-605
    • Salmi, M.1    Granfors, K.2    MacDermott, R.3
  • 17
    • 84857657829 scopus 로고    scopus 로고
    • Regulation of Toll-like receptor signaling by NDP52-mediated selective autophagy is normally inactivated by A20
    • M. Inomata, S. Niida, and K.I. Shibata Regulation of Toll-like receptor signaling by NDP52-mediated selective autophagy is normally inactivated by A20 Cell Mol Life Sci 69 2012 963 979
    • (2012) Cell Mol Life Sci , vol.69 , pp. 963-979
    • Inomata, M.1    Niida, S.2    Shibata, K.I.3
  • 18
    • 34447511700 scopus 로고    scopus 로고
    • Intestinal epithelial cells from inflammatory bowel disease patients preferentially stimulate CD4+ T cells to proliferate and secrete interferon-gamma
    • I. Dotan, M. Allez, and A. Nakazawa Intestinal epithelial cells from inflammatory bowel disease patients preferentially stimulate CD4+ T cells to proliferate and secrete interferon-gamma Am J Physiol Gastrointest Liver Physiol 292 2007 G1630 G1640
    • (2007) Am J Physiol Gastrointest Liver Physiol , vol.292
    • Dotan, I.1    Allez, M.2    Nakazawa, A.3
  • 19
    • 85047690640 scopus 로고    scopus 로고
    • Nonclassical CD1d-restricted NK T cells that produce IL-13 characterize an atypical Th2 response in ulcerative colitis
    • I.J. Fuss, F. Heller, and M. Boirivant Nonclassical CD1d-restricted NK T cells that produce IL-13 characterize an atypical Th2 response in ulcerative colitis J Clin Invest 113 2004 1490 1497
    • (2004) J Clin Invest , vol.113 , pp. 1490-1497
    • Fuss, I.J.1    Heller, F.2    Boirivant, M.3
  • 20
    • 75649136214 scopus 로고    scopus 로고
    • Effectors and memories: Bcl-6 and Blimp-1 in T and B lymphocyte differentiation
    • S. Crotty, R.J. Johnston, and S.P. Schoenberger Effectors and memories: Bcl-6 and Blimp-1 in T and B lymphocyte differentiation Nat Immunol 11 2010 114 120
    • (2010) Nat Immunol , vol.11 , pp. 114-120
    • Crotty, S.1    Johnston, R.J.2    Schoenberger, S.P.3
  • 21
    • 34548805282 scopus 로고    scopus 로고
    • A genome-wide association study of global gene expression
    • A.L. Dixon, L. Liang, and M.F. Moffatt A genome-wide association study of global gene expression Nat Genet 39 2007 1202 1207
    • (2007) Nat Genet , vol.39 , pp. 1202-1207
    • Dixon, A.L.1    Liang, L.2    Moffatt, M.F.3
  • 22
    • 50449091647 scopus 로고    scopus 로고
    • Deletion polymorphism upstream of IRGM associated with altered IRGM expression and Crohn's disease
    • S.A. McCarroll, A. Huett, and P. Kuballa Deletion polymorphism upstream of IRGM associated with altered IRGM expression and Crohn's disease Nat Genet 40 2008 1107 1112
    • (2008) Nat Genet , vol.40 , pp. 1107-1112
    • McCarroll, S.A.1    Huett, A.2    Kuballa, P.3
  • 23
    • 33646010346 scopus 로고    scopus 로고
    • Transcriptional repressor Blimp-1 regulates T cell homeostasis and function
    • G.A. Martins, L. Cimmino, and M. Shapiro-Shelef Transcriptional repressor Blimp-1 regulates T cell homeostasis and function Nat Immunol 7 2006 457 465
    • (2006) Nat Immunol , vol.7 , pp. 457-465
    • Martins, G.A.1    Cimmino, L.2    Shapiro-Shelef, M.3
  • 24
    • 33645979374 scopus 로고    scopus 로고
    • Transcriptional repressor Blimp-1 is essential for T cell homeostasis and self-tolerance
    • A. Kallies, E.D. Hawkins, and G.T. Belz Transcriptional repressor Blimp-1 is essential for T cell homeostasis and self-tolerance Nat Immunol 7 2006 466 474
    • (2006) Nat Immunol , vol.7 , pp. 466-474
    • Kallies, A.1    Hawkins, E.D.2    Belz, G.T.3
  • 25
    • 0029024780 scopus 로고
    • Molecular characterization of NDP52, a novel protein of the nuclear domain 10, which is redistributed upon virus infection and interferon treatment
    • F. Korioth, C. Gieffers, and G.G. Maul Molecular characterization of NDP52, a novel protein of the nuclear domain 10, which is redistributed upon virus infection and interferon treatment J Cell Biol 130 1995 1 13
    • (1995) J Cell Biol , vol.130 , pp. 1-13
    • Korioth, F.1    Gieffers, C.2    Maul, G.G.3
  • 26
    • 70350450808 scopus 로고    scopus 로고
    • The TBK1 adaptor and autophagy receptor NDP52 restricts the proliferation of ubiquitin-coated bacteria
    • T.L. Thurston, G. Ryzhakov, and S. Bloor The TBK1 adaptor and autophagy receptor NDP52 restricts the proliferation of ubiquitin-coated bacteria Nat Immunol 10 2009 1215 1221
    • (2009) Nat Immunol , vol.10 , pp. 1215-1221
    • Thurston, T.L.1    Ryzhakov, G.2    Bloor, S.3
  • 27
    • 34548246114 scopus 로고    scopus 로고
    • T6BP and NDP52 are myosin VI binding partners with potential roles in cytokine signalling and cell adhesion
    • B. Morriswood, G. Ryzhakov, and C. Puri T6BP and NDP52 are myosin VI binding partners with potential roles in cytokine signalling and cell adhesion J Cell Sci 120 2007 2574 2585
    • (2007) J Cell Sci , vol.120 , pp. 2574-2585
    • Morriswood, B.1    Ryzhakov, G.2    Puri, C.3
  • 28
    • 70350444986 scopus 로고    scopus 로고
    • NDP52: The missing link between ubiquitinated bacteria and autophagy
    • S. Ivanov, and C.R. Roy NDP52: the missing link between ubiquitinated bacteria and autophagy Nat Immunol 10 2009 1137 1139
    • (2009) Nat Immunol , vol.10 , pp. 1137-1139
    • Ivanov, S.1    Roy, C.R.2
  • 29
    • 77953496542 scopus 로고    scopus 로고
    • NDP52, a novel autophagy receptor for ubiquitin-decorated cytosolic bacteria
    • N. von Muhlinen, T. Thurston, and G. Ryzhakov NDP52, a novel autophagy receptor for ubiquitin-decorated cytosolic bacteria Autophagy 6 2010 288 289
    • (2010) Autophagy , vol.6 , pp. 288-289
    • Von Muhlinen, N.1    Thurston, T.2    Ryzhakov, G.3
  • 30
    • 17744373329 scopus 로고    scopus 로고
    • Genetics of Crohn disease, an archetypal inflammatory barrier disease
    • S. Schreiber, P. Rosenstiel, and M. Albrecht Genetics of Crohn disease, an archetypal inflammatory barrier disease Nat Rev Genet 6 2005 376 388
    • (2005) Nat Rev Genet , vol.6 , pp. 376-388
    • Schreiber, S.1    Rosenstiel, P.2    Albrecht, M.3
  • 31
    • 65249131713 scopus 로고    scopus 로고
    • Rare variants of IFIH1, a gene implicated in antiviral responses, protect against type 1 diabetes
    • S. Nejentsev, N. Walker, and D. Riches Rare variants of IFIH1, a gene implicated in antiviral responses, protect against type 1 diabetes Science 324 2009 387 389
    • (2009) Science , vol.324 , pp. 387-389
    • Nejentsev, S.1    Walker, N.2    Riches, D.3
  • 32
    • 79952195585 scopus 로고    scopus 로고
    • Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47
    • C.A. Anderson, G. Boucher, and C.W. Lees Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47 Nat Genet 43 2011 246 252
    • (2011) Nat Genet , vol.43 , pp. 246-252
    • Anderson, C.A.1    Boucher, G.2    Lees, C.W.3


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