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Volumn 30, Issue 3, 2014, Pages 310-319

Update on primary sclerosing cholangitis genetics

Author keywords

genome wide association study; primary sclerosing cholangitis

Indexed keywords

ALKALINE PHOSPHATASE; HISTONE DEACETYLASE 7; INTERFERON REGULATORY FACTOR 4; LYMPHOID ENHANCER FACTOR 1;

EID: 84898547044     PISSN: 02671379     EISSN: 15317056     Source Type: Journal    
DOI: 10.1097/MOG.0000000000000052     Document Type: Review
Times cited : (27)

References (91)
  • 1
    • 47949124659 scopus 로고    scopus 로고
    • Increased risk of primary sclerosing cholangitis and ulcerative colitis in first-degree relatives of patients with primary sclerosing cholangitis
    • Bergquist A, Montgomery SM, Bahmanyar S, et al. Increased risk of primary sclerosing cholangitis and ulcerative colitis in first-degree relatives of patients with primary sclerosing cholangitis. Clin Gastroenterol Hepatol 2008; 6:939-943.
    • (2008) Clin Gastroenterol Hepatol , vol.6 , pp. 939-943
    • Bergquist, A.1    Montgomery, S.M.2    Bahmanyar, S.3
  • 2
    • 77249164222 scopus 로고    scopus 로고
    • Genome-wide association analysis in primary sclerosing cholangitis
    • Karlsen TH, Franke A, Melum E, et al. Genome-wide association analysis in primary sclerosing cholangitis. Gastroenterology 2010; 138:1102-1111.
    • (2010) Gastroenterology , vol.138 , pp. 1102-1111
    • Karlsen, T.H.1    Franke, A.2    Melum, E.3
  • 3
    • 78651227093 scopus 로고    scopus 로고
    • Genome-wide association analysis in primary sclerosing cholangitis identifies two non-HLA susceptibility loci
    • Melum E, Franke A, Schramm C, et al. Genome-wide association analysis in primary sclerosing cholangitis identifies two non-HLA susceptibility loci. Nat Genet 2011; 43:17-19.
    • (2011) Nat Genet , vol.43 , pp. 17-19
    • Melum, E.1    Franke, A.2    Schramm, C.3
  • 4
    • 84862215496 scopus 로고    scopus 로고
    • Fine mapping and replication of genetic risk loci in primary sclerosing cholangitis
    • Srivastava B, Mells GF, Cordell HJ, et al. Fine mapping and replication of genetic risk loci in primary sclerosing cholangitis. Scand J Gastroenterol 2012; 47:820-826.
    • (2012) Scand J Gastroenterol , vol.47 , pp. 820-826
    • Srivastava, B.1    Mells, G.F.2    Cordell, H.J.3
  • 5
    • 84863981813 scopus 로고    scopus 로고
    • Extended analysis of a genome-wide association study in primary sclerosing cholangitis detects multiple novel risk loci
    • Folseraas T, Melum E, Rausch P, et al. Extended analysis of a genome-wide association study in primary sclerosing cholangitis detects multiple novel risk loci. J Hepatol 2012; 57:366-375.
    • (2012) J Hepatol , vol.57 , pp. 366-375
    • Folseraas, T.1    Melum, E.2    Rausch, P.3
  • 6
    • 84883219528 scopus 로고    scopus 로고
    • Genome-wide association analysis in primary sclerosing cholangitis and ulcerative colitis identifies risk loci at GPR35 and TCF4
    • Ellinghaus D, Folseraas T, Holm K, et al. Genome-wide association analysis in primary sclerosing cholangitis and ulcerative colitis identifies risk loci at GPR35 and TCF4. Hepatology 2013; 58:1074-1083.
    • (2013) Hepatology , vol.58 , pp. 1074-1083
    • Ellinghaus, D.1    Folseraas, T.2    Holm, K.3
  • 7
    • 84878725018 scopus 로고    scopus 로고
    • Dense genotyping of immune-related disease regions identifies nine new risk loci for primary sclerosing cholangitis
    • Liu JZ, Hov JR, Folseraas T, et al. Dense genotyping of immune-related disease regions identifies nine new risk loci for primary sclerosing cholangitis. Nat Genet 2013; 45:670-675.
    • (2013) Nat Genet , vol.45 , pp. 670-675
    • Liu, J.Z.1    Hov, J.R.2    Folseraas, T.3
  • 8
    • 79952984562 scopus 로고    scopus 로고
    • Role of TNFR-related 2 mediated immune responses in dextran sulfate sodium-induced inflammatory bowel disease
    • Kim WK, Park JS, Sul OJ, et al. Role of TNFR-related 2 mediated immune responses in dextran sulfate sodium-induced inflammatory bowel disease. Mol Cells 2011; 31:99-104.
    • (2011) Mol Cells , vol.31 , pp. 99-104
    • Kim, W.K.1    Park, J.S.2    Sul, O.J.3
  • 9
    • 20044389839 scopus 로고    scopus 로고
    • The role of herpesvirus entry mediator as a negative regulator of T cell-mediated responses
    • Wang Y, Subudhi SK, Anders RA, et al the role of herpesvirus entry mediator as a negative regulator of T cell-mediated responses. J Clin Invest 2005; 115:711-717.
    • (2005) J Clin Invest , vol.115 , pp. 711-717
    • Wang, Y.1    Subudhi, S.K.2    Anders, R.A.3
  • 10
    • 84866772634 scopus 로고    scopus 로고
    • Absence of herpes virus entry mediator (HVEM) increases bone mass by attenuating receptor activator of nuclear factor-kappaB ligand (RANKL)-induced osteoclastogenesis
    • Kim WK, Sul OJ, Choi EK, et al. Absence of herpes virus entry mediator (HVEM) increases bone mass by attenuating receptor activator of nuclear factor-kappaB ligand (RANKL)-induced osteoclastogenesis. Endocrinology 2012; 153:4808-4817.
    • (2012) Endocrinology , vol.153 , pp. 4808-4817
    • Kim, W.K.1    Sul, O.J.2    Choi, E.K.3
  • 11
    • 84874411785 scopus 로고    scopus 로고
    • Herpesvirus entry mediator is a serotype specific determinant of pathogenesis in ocular herpes
    • Karaba AH, Kopp SJ, Longnecker R. Herpesvirus entry mediator is a serotype specific determinant of pathogenesis in ocular herpes. Proc Natl Acad Sci USA 2012; 109:20649-20654.
    • (2012) Proc Natl Acad Sci USA , vol.109 , pp. 20649-20654
    • Karaba, A.H.1    Kopp, S.J.2    Longnecker, R.3
  • 12
    • 84055199903 scopus 로고    scopus 로고
    • Herpesvirus entry mediator regulates hypoxia-inducible factor-1alpha and erythropoiesis in mice
    • Sakoda Y, Anand S, Zhao Y, et al. Herpesvirus entry mediator regulates hypoxia-inducible factor-1alpha and erythropoiesis in mice. J Clin Invest 2011; 121:4810-4819.
    • (2011) J Clin Invest , vol.121 , pp. 4810-4819
    • Sakoda, Y.1    Anand, S.2    Zhao, Y.3
  • 13
    • 79960345581 scopus 로고    scopus 로고
    • HVEM-deficient mice fed a high-fat diet are protected from adipose tissue inflammation and glucose intolerance
    • Kim HJ, Kim HM, Kim CS, et al. HVEM-deficient mice fed a high-fat diet are protected from adipose tissue inflammation and glucose intolerance. FEBS Lett 2011; 585:2285-2290.
    • (2011) FEBS Lett , vol.585 , pp. 2285-2290
    • Kim, H.J.1    Kim, H.M.2    Kim, C.S.3
  • 14
    • 65249157457 scopus 로고    scopus 로고
    • IL-22-dependent attenuation of T cell-dependent (ConA) hepatitis in herpes virus entry mediator deficiency
    • Wahl C, Wegenka UM, Leithauser F, et al. IL-22-dependent attenuation of T cell-dependent (ConA) hepatitis in herpes virus entry mediator deficiency. J Immunol 2009; 182:4521-4528.
    • (2009) J Immunol , vol.182 , pp. 4521-4528
    • Wahl, C.1    Wegenka, U.M.2    Leithauser, F.3
  • 15
    • 2942566653 scopus 로고    scopus 로고
    • Reduced fertility in male mice deficient in the zinc metallopeptidase NL1
    • Carpentier M, Guillemette C, Bailey JL, et al. Reduced fertility in male mice deficient in the zinc metallopeptidase NL1. Mol Cellular Biol 2004; 24:4428-4437.
    • (2004) Mol Cellular Biol , vol.24 , pp. 4428-4437
    • Carpentier, M.1    Guillemette, C.2    Bailey, J.L.3
  • 16
    • 79251469086 scopus 로고    scopus 로고
    • Neprilysin-2 is an important beta-amyloid degrading enzyme
    • Hafez D, Huang JY, Huynh AM, et al. Neprilysin-2 is an important beta-amyloid degrading enzyme. Am J Pathol 2011; 178:306-312.
    • (2011) Am J Pathol , vol.178 , pp. 306-312
    • Hafez, D.1    Huang, J.Y.2    Huynh, A.M.3
  • 17
    • 0033607506 scopus 로고    scopus 로고
    • Proapoptotic Bcl-2 relative Bim required for certain apoptotic responses, leukocyte homeostasis, and to preclude autoimmunity
    • Bouillet P, Metcalf D, Huang DC, et al. Proapoptotic Bcl-2 relative Bim required for certain apoptotic responses, leukocyte homeostasis, and to preclude autoimmunity. Science 1999; 286:1735-1738.
    • (1999) Science , vol.286 , pp. 1735-1738
    • Bouillet, P.1    Metcalf, D.2    Huang, D.C.3
  • 18
    • 84855989834 scopus 로고    scopus 로고
    • The proapoptotic Bcl-2 family member Bim plays a central role during the development of virus-induced hepatitis
    • Lauer C, Brunner T, Corazza N the proapoptotic Bcl-2 family member Bim plays a central role during the development of virus-induced hepatitis. J Immunol 2012; 188:916-922.
    • (2012) J Immunol , vol.188 , pp. 916-922
    • Lauer, C.1    Brunner, T.2    Corazza, N.3
  • 19
    • 33748316625 scopus 로고    scopus 로고
    • TRAIL receptor-mediated JNK activation and Bim phosphorylation critically regulate Fas-mediated liver damage and lethality
    • Corazza N, Jakob S, Schaer C, et al. TRAIL receptor-mediated JNK activation and Bim phosphorylation critically regulate Fas-mediated liver damage and lethality. J Clin Invest 2006; 116:2493-2499.
    • (2006) J Clin Invest , vol.116 , pp. 2493-2499
    • Corazza, N.1    Jakob, S.2    Schaer, C.3
  • 20
    • 0027281691 scopus 로고
    • Differential T cell costimulatory requirements in CD28-deficient mice
    • Shahinian A, Pfeffer K, Lee KP, et al. Differential T cell costimulatory requirements in CD28-deficient mice. Science 1993; 261:609-612.
    • (1993) Science , vol.261 , pp. 609-612
    • Shahinian, A.1    Pfeffer, K.2    Lee, K.P.3
  • 21
    • 77549088355 scopus 로고    scopus 로고
    • Identification of genes related to heart failure using global gene expression profiling of human failing myocardium
    • Min KD, Asakura M, Liao Y, et al. Identification of genes related to heart failure using global gene expression profiling of human failing myocardium. Biochem Biophys Res Commun 2010; 393:55-60.
    • (2010) Biochem Biophys Res Commun , vol.393 , pp. 55-60
    • Min, K.D.1    Asakura, M.2    Liao, Y.3
  • 22
    • 0032032585 scopus 로고    scopus 로고
    • Biological effects of targeted inactivation of hepatocyte growth factor-like protein in mice
    • Bezerra JA, Carrick TL, Degen JL, et al. Biological effects of targeted inactivation of hepatocyte growth factor-like protein in mice. J Clin Invest 1998; 101:1175-1183.
    • (1998) J Clin Invest , vol.101 , pp. 1175-1183
    • Bezerra, J.A.1    Carrick, T.L.2    Degen, J.L.3
  • 23
    • 0030338081 scopus 로고    scopus 로고
    • Generalized autoimmune diseases in BALB/c mice with a genetically dependent interleukin-2 deficiency
    • Lohler J, Sadlack B, Schorle H, et al. Generalized autoimmune diseases in BALB/c mice with a genetically dependent interleukin-2 deficiency. Verh Dtsch Ges Pathol 1996; 80:293-296.
    • (1996) Verh Dtsch Ges Pathol , vol.80 , pp. 293-296
    • Lohler, J.1    Sadlack, B.2    Schorle, H.3
  • 24
    • 0027369395 scopus 로고
    • Ulcerative colitis-like disease in mice with a disrupted interleukin-2 gene
    • Sadlack B, Merz H, Schorle H, et al. Ulcerative colitis-like disease in mice with a disrupted interleukin-2 gene. Cell 1993; 75:253-261.
    • (1993) Cell , vol.75 , pp. 253-261
    • Sadlack, B.1    Merz, H.2    Schorle, H.3
  • 25
    • 0029087143 scopus 로고
    • Immunodeficiency inIL-2-knockout mice
    • Horak I. Immunodeficiency inIL-2-knockout mice. Clin Immunol Immunopathol 1995; 76:S172-173.
    • (1995) Clin Immunol Immunopathol , vol.76
    • Horak, I.1
  • 26
    • 0034771609 scopus 로고    scopus 로고
    • Disrupted B-lymphocyte development and survival in interleukin-2- deficient mice
    • Schultz M, Clarke SH, Arnold LW, et al. Disrupted B-lymphocyte development and survival in interleukin-2-deficient mice. Immunology 2001; 104:127-134.
    • (2001) Immunology , vol.104 , pp. 127-134
    • Schultz, M.1    Clarke, S.H.2    Arnold, L.W.3
  • 27
    • 0033000343 scopus 로고    scopus 로고
    • IL-2-deficient mice raised under germfree conditions develop delayed mild focal intestinal inflammation
    • Schultz M, Tonkonogy SL, Sellon RK, et al. IL-2-deficient mice raised under germfree conditions develop delayed mild focal intestinal inflammation. Am J Physiol 1999; 276:G1461-1472.
    • (1999) Am J Physiol , vol.276
    • Schultz, M.1    Tonkonogy, S.L.2    Sellon, R.K.3
  • 28
    • 0028843720 scopus 로고
    • Endogenous IL-2 contributes to T cell expansion and IFN-gamma production during lymphocytic choriomeningitis virus infection
    • Cousens LP, Orange JS, Biron CA. Endogenous IL-2 contributes to T cell expansion and IFN-gamma production during lymphocytic choriomeningitis virus infection. J Immunol 1995; 155:5690-5699.
    • (1995) J Immunol , vol.155 , pp. 5690-5699
    • Cousens, L.P.1    Orange, J.S.2    Biron, C.A.3
  • 29
    • 33750460981 scopus 로고    scopus 로고
    • IgE isotype switch and IgE production are enhanced in IL-21-deficient but not IFN-gamma-deficient mice in a Th2-biased response
    • Shang XZ, Ma KY, Radewonuk J, et al. IgE isotype switch and IgE production are enhanced in IL-21-deficient but not IFN-gamma-deficient mice in a Th2-biased response. Cell Immunol 2006; 241:66-74.
    • (2006) Cell Immunol , vol.241 , pp. 66-74
    • Shang, X.Z.1    Ma, K.Y.2    Radewonuk, J.3
  • 30
    • 2942537762 scopus 로고    scopus 로고
    • The transcriptional programme of antibody class switching involves the repressor Bach2
    • Muto A, Tashiro S, Nakajima O, et al the transcriptional programme of antibody class switching involves the repressor Bach2. Nature 2004; 429:566-571.
    • (2004) Nature , vol.429 , pp. 566-571
    • Muto, A.1    Tashiro, S.2    Nakajima, O.3
  • 31
    • 84886851330 scopus 로고    scopus 로고
    • Transcription repressor Bach2 is required for pulmonary surfactant homeostasis and alveolar macro-phage function
    • Nakamura A, Ebina-Shibuya R, Itoh-Nakadai A, et al. Transcription repressor Bach2 is required for pulmonary surfactant homeostasis and alveolar macro-phage function. J Exp Med 2013; 210:2191-2204.
    • (2013) J Exp Med , vol.210 , pp. 2191-2204
    • Nakamura, A.1    Ebina-Shibuya, R.2    Itoh-Nakadai, A.3
  • 32
    • 84879685794 scopus 로고    scopus 로고
    • BACH2 represses effector programs to stabilize T(reg)-mediated immune homeostasis
    • Roychoudhuri R, Hirahara K, Mousavi K, et al. BACH2 represses effector programs to stabilize T(reg)-mediated immune homeostasis. Nature 2013; 498:506-510.
    • (2013) Nature , vol.498 , pp. 506-510
    • Roychoudhuri, R.1    Hirahara, K.2    Mousavi, K.3
  • 33
    • 0028784289 scopus 로고
    • Interleukin-2 receptor alpha chain regulates the size and content of the peripheral lymphoid compartment
    • Willerford DM, Chen J, Ferry JA, et al. Interleukin-2 receptor alpha chain regulates the size and content of the peripheral lymphoid compartment. Immunity 1995; 3:521-530.
    • (1995) Immunity , vol.3 , pp. 521-530
    • Willerford, D.M.1    Chen, J.2    Ferry, J.A.3
  • 34
    • 78650961108 scopus 로고    scopus 로고
    • SIK2 is a key regulator for neuronal survival after ischemia via TORC1-CREB
    • Sasaki T, Takemori H, Yagita Y, et al. SIK2 is a key regulator for neuronal survival after ischemia via TORC1-CREB. Neuron 2011; 69:106-119.
    • (2011) Neuron , vol.69 , pp. 106-119
    • Sasaki, T.1    Takemori, H.2    Yagita, Y.3
  • 35
    • 33746228132 scopus 로고    scopus 로고
    • Histone deacetylase 7 maintains vascular integrity by repressing matrix metalloproteinase 10
    • Chang S, Young BD, Li S, et al. Histone deacetylase 7 maintains vascular integrity by repressing matrix metalloproteinase 10. Cell 2006; 126:321-334.
    • (2006) Cell , vol.126 , pp. 321-334
    • Chang, S.1    Young, B.D.2    Li, S.3
  • 36
    • 84873019253 scopus 로고    scopus 로고
    • HDAC7 inhibits osteoclastogenesis by reversing RANKL-triggered beta-catenin switch
    • Jin Z, Wei W, Dechow PC, Wan Y. HDAC7 inhibits osteoclastogenesis by reversing RANKL-triggered beta-catenin switch. Mol Endocrinol 2013; 27:325-335.
    • (2013) Mol Endocrinol , vol.27 , pp. 325-335
    • Jin, Z.1    Wei, W.2    Dechow, P.C.3    Wan, Y.4
  • 37
    • 0037124306 scopus 로고    scopus 로고
    • Cytokine signaling and hemato-poietic homeostasis are disrupted in Lnk-deficient mice
    • Velazquez L, Cheng AM, Fleming HE, et al. Cytokine signaling and hemato-poietic homeostasis are disrupted in Lnk-deficient mice. J Exp Med 2002; 195:1599-1611.
    • (2002) J Exp Med , vol.195 , pp. 1599-1611
    • Velazquez, L.1    Cheng, A.M.2    Fleming, H.E.3
  • 38
    • 84890817543 scopus 로고    scopus 로고
    • Lnk adaptor suppresses radiation resistance and radiation-induced B-cell malignancies by inhibiting IL-11 signaling
    • Louria-Hayon I, Frelin C, Ruston J, et al. Lnk adaptor suppresses radiation resistance and radiation-induced B-cell malignancies by inhibiting IL-11 signaling. Proc Natl Acad Sci USA 2013; 110:20599-20604.
    • (2013) Proc Natl Acad Sci USA , vol.110 , pp. 20599-20604
    • Louria-Hayon, I.1    Frelin, C.2    Ruston, J.3
  • 39
    • 67651085082 scopus 로고    scopus 로고
    • Dissociated fear and spatial learning in mice with deficiency of ataxin-2
    • Huynh DP, Maalouf M, Silva AJ, et al. Dissociated fear and spatial learning in mice with deficiency of ataxin-2. PloS One 2009; 4:e6235.
    • (2009) PloS One , vol.4
    • Huynh, D.P.1    Maalouf, M.2    Silva, A.J.3
  • 40
  • 41
    • 43049114214 scopus 로고    scopus 로고
    • Insulin receptor and lipid metabolism pathology in ataxin-2 knock-out mice
    • Lastres-Becker I, Brodesser S, Lutjohann D, et al. Insulin receptor and lipid metabolism pathology in ataxin-2 knock-out mice. Hum Mol Genet 2008; 17:1465-1481.
    • (2008) Hum Mol Genet , vol.17 , pp. 1465-1481
    • Lastres-Becker, I.1    Brodesser, S.2    Lutjohann, D.3
  • 42
    • 0029896451 scopus 로고    scopus 로고
    • B-lymphocyte development is regulated by the combined dosage of three basic helix-loop-helix genes, E2A, E2-2, and HEB
    • Zhuang Y, Cheng P, Weintraub H. B-lymphocyte development is regulated by the combined dosage of three basic helix-loop-helix genes, E2A, E2-2, and HEB. Mol Cell Biol 1996; 16:2898-2905.
    • (1996) Mol Cell Biol , vol.16 , pp. 2898-2905
    • Zhuang, Y.1    Cheng, P.2    Weintraub, H.3
  • 43
    • 34848860827 scopus 로고    scopus 로고
    • The E-protein Tcf4 interacts with Math1 to regulate differentiation of a specific subset of neuronal progenitors
    • Flora A, Garcia JJ, Thaller C, Zoghbi HY the E-protein Tcf4 interacts with Math1 to regulate differentiation of a specific subset of neuronal progenitors. Proc Natl Acad Sci USA 2007; 104:15382-15387.
    • (2007) Proc Natl Acad Sci USA , vol.104 , pp. 15382-15387
    • Flora, A.1    Garcia, J.J.2    Thaller, C.3    Zoghbi, H.Y.4
  • 44
    • 52949106528 scopus 로고    scopus 로고
    • Transcription factor E2-2 is an essential and specific regulator of plasmacytoid dendritic cell development
    • Cisse B, Caton ML, Lehner M, et al. Transcription factor E2-2 is an essential and specific regulator of plasmacytoid dendritic cell development. Cell 2008; 135:37-48.
    • (2008) Cell , vol.135 , pp. 37-48
    • Cisse, B.1    Caton, M.L.2    Lehner, M.3
  • 45
    • 59649091694 scopus 로고    scopus 로고
    • Accelerated tumor growth in mice deficient in DNAM-1 receptor
    • Iguchi-Manaka A, Kai H, Yamashita Y, et al. Accelerated tumor growth in mice deficient in DNAM-1 receptor. J Exp Med 2008; 205:2959-2964.
    • (2008) J Exp Med , vol.205 , pp. 2959-2964
    • Iguchi-Manaka, A.1    Kai, H.2    Yamashita, Y.3
  • 46
    • 84861709003 scopus 로고    scopus 로고
    • CD8 T cell defect of TNF-alpha and IL-2 in DNAM-1 deficient mice delays clearance in vivo of a persistent virus infection
    • Welch MJ, Teijaro JR, Lewicki HA, et al. CD8 T cell defect of TNF-alpha and IL-2 in DNAM-1 deficient mice delays clearance in vivo of a persistent virus infection. Virology 2012; 429:163-170.
    • (2012) Virology , vol.429 , pp. 163-170
    • Welch, M.J.1    Teijaro, J.R.2    Lewicki, H.A.3
  • 47
    • 78649729311 scopus 로고    scopus 로고
    • Unique functions for protein kinase D1 and protein kinase D2 in mammalian cells
    • Matthews SA, Navarro MN, Sinclair LV, et al. Unique functions for protein kinase D1 and protein kinase D2 in mammalian cells. Biochem J 2010; 432:153-163.
    • (2010) Biochem J , vol.432 , pp. 153-163
    • Matthews, S.A.1    Navarro, M.N.2    Sinclair, L.V.3
  • 48
    • 77955302229 scopus 로고    scopus 로고
    • PAC1 gene knockout revealsanessential role of chaperone-mediated 20S proteasome biogenesis and latent 20S proteasomes in cellular homeostasis
    • Sasaki K, Hamazaki J, Koike M, et al. PAC1 gene knockout revealsanessential role of chaperone-mediated 20S proteasome biogenesis and latent 20S proteasomes in cellular homeostasis. Mol Cell Biol 2010; 30:3864-3874.
    • (2010) Mol Cell Biol , vol.30 , pp. 3864-3874
    • Sasaki, K.1    Hamazaki, J.2    Koike, M.3
  • 49
    • 84886253518 scopus 로고    scopus 로고
    • Novel insights into autoimmune liver diseases provided by genome-wide association studies
    • Mells GF, Kaser A, Karlsen TH. Novel insights into autoimmune liver diseases provided by genome-wide association studies. J Autoimmun 2013; 46:41-54.
    • (2013) J Autoimmun , vol.46 , pp. 41-54
    • Mells, G.F.1    Kaser, A.2    Karlsen, T.H.3
  • 50
    • 84876041065 scopus 로고    scopus 로고
    • TGR5 signalling inhibits the production of pro-inflammatory cytokines by in vitro differentiated inflammatory and intestinal macrophages in Crohn's disease
    • Yoneno K, Hisamatsu T, Shimamura K, et al. TGR5 signalling inhibits the production of pro-inflammatory cytokines by in vitro differentiated inflammatory and intestinal macrophages in Crohn's disease. Immunology 2013; 139:19-29.
    • (2013) Immunology , vol.139 , pp. 19-29
    • Yoneno, K.1    Hisamatsu, T.2    Shimamura, K.3
  • 51
    • 84876896348 scopus 로고    scopus 로고
    • Bile acid receptor activation modulates hepatic monocyte activity and improves nonalcoholic fatty liver disease
    • McMahan RH, Wang XX, Cheng LL, et al. Bile acid receptor activation modulates hepatic monocyte activity and improves nonalcoholic fatty liver disease. J Biol Chem 2013; 288:11761-11770.
    • (2013) J Biol Chem , vol.288 , pp. 11761-11770
    • McMahan, R.H.1    Wang, X.X.2    Cheng, L.L.3
  • 52
    • 84868336049 scopus 로고    scopus 로고
    • Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease
    • Jostins L, Ripke S, Weersma RK, et al. Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. Nature 2012; 491:119-124.
    • (2012) Nature , vol.491 , pp. 119-124
    • Jostins, L.1    Ripke, S.2    Weersma, R.K.3
  • 53
    • 77950298959 scopus 로고    scopus 로고
    • Genome-wideassociation identifies multiple ulcerative colitis susceptibility loci
    • McGovern DP, Gardet A, Torkvist L, et al. Genome-wideassociation identifies multiple ulcerative colitis susceptibility loci. Nat Genet 2010; 42:332-337.
    • (2010) Nat Genet , vol.42 , pp. 332-337
    • McGovern, D.P.1    Gardet, A.2    Torkvist, L.3
  • 54
    • 70649103789 scopus 로고    scopus 로고
    • Genome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region
    • Barrett JC, Lee JC, Lees CW, et al. Genome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region. Nat Genet 2009; 41:1330-1334.
    • (2009) Nat Genet , vol.41 , pp. 1330-1334
    • Barrett, J.C.1    Lee, J.C.2    Lees, C.W.3
  • 55
    • 48349136889 scopus 로고    scopus 로고
    • Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease
    • Barrett JC, Hansoul S, Nicolae DL, et al. Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease. Nat Genet 2008; 40:955-962.
    • (2008) Nat Genet , vol.40 , pp. 955-962
    • Barrett, J.C.1    Hansoul, S.2    Nicolae, D.L.3
  • 56
    • 84969213492 scopus 로고    scopus 로고
    • Genome-wide association study of 14000 cases of seven common diseases and 3000 shared controls
    • The Wellcome Trust Case Control Consortium
    • The Wellcome Trust Case Control Consortium. Genome-wide association study of 14000 cases of seven common diseases and 3000 shared controls. Nature 2007; 447:661-678.
    • (2007) Nature , vol.447 , pp. 661-678
  • 57
    • 84873701087 scopus 로고    scopus 로고
    • Improved detection of common variants associated with schizophrenia by leveraging pleiotropy with cardiovascular-disease risk factors
    • Andreassen OA, Djurovic S, Thompson WK, et al. Improved detection of common variants associated with schizophrenia by leveraging pleiotropy with cardiovascular-disease risk factors. Am J Hum Genet 2013; 92:197-209.
    • (2013) Am J Hum Genet , vol.92 , pp. 197-209
    • Andreassen, O.A.1    Djurovic, S.2    Thompson, W.K.3
  • 58
    • 84876834541 scopus 로고    scopus 로고
    • Improved detection of common variants associated with schizophrenia and bipolar disorder using pleiotropy-informed conditional false discovery rate
    • Andreassen OA, Thompson WK, Schork AJ, et al. Improved detection of common variants associated with schizophrenia and bipolar disorder using pleiotropy-informed conditional false discovery rate. PLoS Genet 2013; 9:e1003455.
    • (2013) PLoS Genet , vol.9
    • Andreassen, O.A.1    Thompson, W.K.2    Schork, A.J.3
  • 59
    • 77957877682 scopus 로고    scopus 로고
    • Mutational characterization of the bile acid receptor TGR5 in primary sclerosing cholangitis
    • Hov JR, Keitel V, Laerdahl JK, et al. Mutational characterization of the bile acid receptor TGR5 in primary sclerosing cholangitis. PLoS One 2010; 5:e12403.
    • (2010) PLoS One , vol.5
    • Hov, J.R.1    Keitel, V.2    Laerdahl, J.K.3
  • 60
    • 77957947562 scopus 로고    scopus 로고
    • Hundreds of variants clustered in genomic loci and biological pathways affect human height
    • Lango Allen H, Estrada K, Lettre G, et al. Hundreds of variants clustered in genomic loci and biological pathways affect human height. Nature 2010; 467:832-838.
    • (2010) Nature , vol.467 , pp. 832-838
    • Lango Allen, H.1    Estrada, K.2    Lettre, G.3
  • 61
    • 84888003877 scopus 로고    scopus 로고
    • FUT2 and FUT3 genotype determines CA19-9 cut-off values for detection of cholangiocarcinoma in patients with primary sclerosing cholangitis
    • Wannhoff A, Hov JR, Folseraas T, et al. FUT2 and FUT3 genotype determines CA19-9 cut-off values for detection of cholangiocarcinoma in patients with primary sclerosing cholangitis. J Hepatol 2013; 59:1278-1284.
    • (2013) J Hepatol , vol.59 , pp. 1278-1284
    • Wannhoff, A.1    Hov, J.R.2    Folseraas, T.3
  • 62
    • 53049090077 scopus 로고    scopus 로고
    • Population-based genome-wide association studies reveal six loci influencing plasma levels of liver enzymes
    • Yuan X, Waterworth D, Perry JR, et al. Population-based genome-wide association studies reveal six loci influencing plasma levels of liver enzymes. Am J Hum Genet 2008; 83:520-528.
    • (2008) Am J Hum Genet , vol.83 , pp. 520-528
    • Yuan, X.1    Waterworth, D.2    Perry, J.R.3
  • 63
    • 80055024880 scopus 로고    scopus 로고
    • Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma
    • Chambers JC, Zhang W, Sehmi J, et al. Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma. Nat Genet 2011; 43:1131-1138.
    • (2011) Nat Genet , vol.43 , pp. 1131-1138
    • Chambers, J.C.1    Zhang, W.2    Sehmi, J.3
  • 64
    • 0033780104 scopus 로고    scopus 로고
    • How many diseases does ittake to map a gene with SNPs?
    • Weiss KM, Terwilliger JD. How many diseases does ittake to map a gene with SNPs? Nat Genet 2000; 26:151-157.
    • (2000) Nat Genet , vol.26 , pp. 151-157
    • Weiss, K.M.1    Terwilliger, J.D.2
  • 65
    • 78649489009 scopus 로고    scopus 로고
    • Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci
    • Franke A, McGovern DP, Barrett JC, et al. Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci. Nat Genet 2010; 42:1118-1125.
    • (2010) Nat Genet , vol.42 , pp. 1118-1125
    • Franke, A.1    McGovern, D.P.2    Barrett, J.C.3
  • 66
    • 42349112088 scopus 로고    scopus 로고
    • Genome-wide association studies for complex traits: Consensus, uncertainty and challenges
    • McCarthy MI, Abecasis GR, Cardon LR, et al. Genome-wide association studies for complex traits: consensus, uncertainty and challenges. Nat Rev Genet 2008; 9:356-369.
    • (2008) Nat Rev Genet , vol.9 , pp. 356-369
    • McCarthy, M.I.1    Abecasis, G.R.2    Cardon, L.R.3
  • 67
    • 77951487491 scopus 로고    scopus 로고
    • The utility of genome-wide association studies in hepatology
    • Karlsen TH, Melum E, Franke A the utility of genome-wide association studies in hepatology. Hepatology 2010; 51:1833-1842.
    • (2010) Hepatology , vol.51 , pp. 1833-1842
    • Karlsen, T.H.1    Melum, E.2    Franke, A.3
  • 68
    • 77952557918 scopus 로고    scopus 로고
    • Missing heritability and strategies for finding the underlying causes of complex disease
    • Eichler EE, Flint J, Gibson G, et al. Missing heritability and strategies for finding the underlying causes of complex disease. Nat Rev Genet 2010; 11:446-450.
    • (2010) Nat Rev Genet , vol.11 , pp. 446-450
    • Eichler, E.E.1    Flint, J.2    Gibson, G.3
  • 69
    • 84876547876 scopus 로고    scopus 로고
    • Crohn's disease loci are common targets of protozoa-driven selection
    • Cagliani R, Pozzoli U, Forni D, et al. Crohn's disease loci are common targets of protozoa-driven selection. Mol Biol Evol 2013; 30:1077-1087.
    • (2013) Mol Biol Evol , vol.30 , pp. 1077-1087
    • Cagliani, R.1    Pozzoli, U.2    Forni, D.3
  • 70
    • 0037167852 scopus 로고    scopus 로고
    • Detecting recent positive selection in the human genome from haplotype structure
    • Sabeti PC, Reich DE, Higgins JM, et al. Detecting recent positive selection in the human genome from haplotype structure. Nature 2002; 419:832-837.
    • (2002) Nature , vol.419 , pp. 832-837
    • Sabeti, P.C.1    Reich, D.E.2    Higgins, J.M.3
  • 71
    • 82255192188 scopus 로고    scopus 로고
    • Dense genotyping identifies and localizes multiple common and rare variant association signals in celiac disease
    • Trynka G, Hunt KA, Bockett NA, et al. Dense genotyping identifies and localizes multiple common and rare variant association signals in celiac disease. Nat Genet 2011; 43:1193-1201.
    • (2011) Nat Genet , vol.43 , pp. 1193-1201
    • Trynka, G.1    Hunt, K.A.2    Bockett, N.A.3
  • 72
    • 84875410166 scopus 로고    scopus 로고
    • Triggers and drivers of autoimmunity: Lessons from coeliac disease
    • Sollid LM, Jabri B. Triggers and drivers of autoimmunity: lessons from coeliac disease. Nat Rev Immunol 2013; 13:294-302.
    • (2013) Nat Rev Immunol , vol.13 , pp. 294-302
    • Sollid, L.M.1    Jabri, B.2
  • 74
    • 84860333083 scopus 로고    scopus 로고
    • Bayesian inference analyses of the polygenic architecture of rheumatoid arthritis
    • Stahl EA, Wegmann D, Trynka G, et al. Bayesian inference analyses of the polygenic architecture of rheumatoid arthritis. Nat Genet 2012; 44:483-489.
    • (2012) Nat Genet , vol.44 , pp. 483-489
    • Stahl, E.A.1    Wegmann, D.2    Trynka, G.3
  • 75
    • 0036208832 scopus 로고    scopus 로고
    • Patterns of linkage disequilibrium in the human genome
    • Ardlie KG, Kruglyak L, Seielstad M. Patterns of linkage disequilibrium in the human genome. Nat Rev Genet 2002; 3:299-309.
    • (2002) Nat Rev Genet , vol.3 , pp. 299-309
    • Ardlie, K.G.1    Kruglyak, L.2    Seielstad, M.3
  • 76
    • 9444295337 scopus 로고    scopus 로고
    • Gene map of the extended human MHC
    • Horton R, Wilming L, Rand V, et al. Gene map of the extended human MHC. Nat Rev Genet 2004; 5:889-899.
    • (2004) Nat Rev Genet , vol.5 , pp. 889-899
    • Horton, R.1    Wilming, L.2    Rand, V.3
  • 77
    • 9144269888 scopus 로고    scopus 로고
    • Mapping multiple sclerosis susceptibility to the HLA-DR locus in African Americans
    • Oksenberg JR, Barcellos LF, Cree BA, et al. Mapping multiple sclerosis susceptibility to the HLA-DR locus in African Americans. Am J Hum Genet 2004; 74:160-167.
    • (2004) Am J Hum Genet , vol.74 , pp. 160-167
    • Oksenberg, J.R.1    Barcellos, L.F.2    Cree, B.A.3
  • 78
    • 84876847154 scopus 로고    scopus 로고
    • All SNPs are not created equal: Genome-wide association studies reveal a consistent pattern of enrichment among functionally annotated SNPs
    • Schork AJ, Thompson WK, Pham P, et al. All SNPs are not created equal: genome-wide association studies reveal a consistent pattern of enrichment among functionally annotated SNPs. PLoS Genet 2013; 9:e1003449.
    • (2013) PLoS Genet , vol.9
    • Schork, A.J.1    Thompson, W.K.2    Pham, P.3
  • 79
    • 84865739425 scopus 로고    scopus 로고
    • Architecture of the human regulatory network derived from ENCODE data
    • Gerstein MB, Kundaje A, Hariharan M, et al. Architecture of the human regulatory network derived from ENCODE data. Nature 2012; 489:91-100.
    • (2012) Nature , vol.489 , pp. 91-100
    • Gerstein, M.B.1    Kundaje, A.2    Hariharan, M.3
  • 80
    • 84865822182 scopus 로고    scopus 로고
    • Systematic localization of common disease-associated variation in regulatory DNA
    • Maurano MT, Humbert R, Rynes E, et al. Systematic localization of common disease-associated variation in regulatory DNA. Science 2012; 337:1190-1195.
    • (2012) Science , vol.337 , pp. 1190-1195
    • Maurano, M.T.1    Humbert, R.2    Rynes, E.3
  • 81
    • 34548745142 scopus 로고    scopus 로고
    • Insights in the regulation of cholesterol 7alpha-hydroxylase gene reveal a target for modulating bile acid synthesis
    • Mitro N, Godio C, De Fabiani E, et al. Insights in the regulation of cholesterol 7alpha-hydroxylase gene reveal a target for modulating bile acid synthesis. Hepatology 2007; 46:885-897.
    • (2007) Hepatology , vol.46 , pp. 885-897
    • Mitro, N.1    Godio, C.2    De Fabiani, E.3
  • 82
    • 0037728615 scopus 로고    scopus 로고
    • HDAC7, a thymus-specific class II histone deacetylase, regulates Nur77 transcription and TCR-mediated apop-tosis
    • Dequiedt F, Kasler H, Fischle W, et al. HDAC7, a thymus-specific class II histone deacetylase, regulates Nur77 transcription and TCR-mediated apop-tosis. Immunity 2003; 18:687-698.
    • (2003) Immunity , vol.18 , pp. 687-698
    • Dequiedt, F.1    Kasler, H.2    Fischle, W.3
  • 83
    • 79957497646 scopus 로고    scopus 로고
    • Electrostatic modifications of the human leukocyte antigen-DR P9 peptide-binding pocket and susceptibility to primary sclerosing cholangitis
    • Hov JR, Kosmoliaptsis V, Traherne JA, et al. Electrostatic modifications of the human leukocyte antigen-DR P9 peptide-binding pocket and susceptibility to primary sclerosing cholangitis. Hepatology 2011; 53:1967-1976.
    • (2011) Hepatology , vol.53 , pp. 1967-1976
    • Hov, J.R.1    Kosmoliaptsis, V.2    Traherne, J.A.3
  • 84
    • 84873083416 scopus 로고    scopus 로고
    • A variant upstream of IFNL3 (IL28B) creating a new interferon gene IFNL4 is associated with impaired clearance of hepatitis C virus
    • Prokunina-Olsson L, Muchmore B, Tang W, et al. A variant upstream of IFNL3 (IL28B) creating a new interferon gene IFNL4 is associated with impaired clearance of hepatitis C virus. Nat Genet 2013; 45:164-171.
    • (2013) Nat Genet , vol.45 , pp. 164-171
    • Prokunina-Olsson, L.1    Muchmore, B.2    Tang, W.3
  • 85
    • 84887621906 scopus 로고    scopus 로고
    • Paneth cells as a site of origin for intestinal inflammation
    • Adolph TE, Tomczak MF, Niederreiter L, et al. Paneth cells as a site of origin for intestinal inflammation. Nature 2013; 503:272-276.
    • (2013) Nature , vol.503 , pp. 272-276
    • Adolph, T.E.1    Tomczak, M.F.2    Niederreiter, L.3
  • 86
    • 84878994629 scopus 로고    scopus 로고
    • Negligible impact ofrare autoimmune-locus coding-region variants on missing heritability
    • Hunt KA, Mistry V, Bockett NA, et al. Negligible impact ofrare autoimmune-locus coding-region variants on missing heritability. Nature 2013; 498:232-235.
    • (2013) Nature , vol.498 , pp. 232-235
    • Hunt, K.A.1    Mistry, V.2    Bockett, N.A.3
  • 87
    • 84880617946 scopus 로고    scopus 로고
    • Association between variants of PRDM1 and NDP52 and Crohn's disease, based on exome sequencing and functional studies
    • Ellinghaus D, Zhang H, Zeissig S, et al. Association between variants of PRDM1 and NDP52 and Crohn's disease, based on exome sequencing and functional studies. Gastroenterology 2013; 145:339-347.
    • (2013) Gastroenterology , vol.145 , pp. 339-347
    • Ellinghaus, D.1    Zhang, H.2    Zeissig, S.3
  • 88
    • 84888353882 scopus 로고    scopus 로고
    • Exome sequencing identifies frequent inactivating mutations in BAP1, ARID1A and PBRM1 in intrahepatic cholan-giocarcinomas
    • Jiao Y, Pawlik TM, Anders RA, et al. Exome sequencing identifies frequent inactivating mutations in BAP1, ARID1A and PBRM1 in intrahepatic cholan-giocarcinomas. Nat Genet 2013; 45:1470-1473.
    • (2013) Nat Genet , vol.45 , pp. 1470-1473
    • Jiao, Y.1    Pawlik, T.M.2    Anders, R.A.3
  • 89
    • 84884538022 scopus 로고    scopus 로고
    • Genetic and epigenetic abnormalities in primary sclerosing cholangitis-associated cholangiocarcinoma
    • Timmer MR, Beuers U, Fockens P, et al. Genetic and epigenetic abnormalities in primary sclerosing cholangitis-associated cholangiocarcinoma. Inflamm Bowel Dis 2013; 19:1789-1797.
    • (2013) Inflamm Bowel Dis , vol.19 , pp. 1789-1797
    • Timmer, M.R.1    Beuers, U.2    Fockens, P.3
  • 90
    • 84873342775 scopus 로고    scopus 로고
    • Gut microbiota regulates bile acid metabolism by reducing the levels of tauro-beta-muricholic acid, a naturally occurring FXR antagonist
    • Sayin SI, Wahlstrom A, Felin J, et al. Gut microbiota regulates bile acid metabolism by reducing the levels of tauro-beta-muricholic acid, a naturally occurring FXR antagonist. Cell Metab 2013; 17:225-235.
    • (2013) Cell Metab , vol.17 , pp. 225-235
    • Sayin, S.I.1    Wahlstrom, A.2    Felin, J.3
  • 91
    • 84863436944 scopus 로고    scopus 로고
    • Dietary-fat-induced taurocholic acid promotes pathobiont expansion and colitis in Il10-/-mice
    • Devkota S, Wang Y, Musch MW, et al. Dietary-fat-induced taurocholic acid promotes pathobiont expansion and colitis in Il10-/-mice. Nature 2012; 487:104-108.
    • (2012) Nature , vol.487 , pp. 104-108
    • Devkota, S.1    Wang, Y.2    Musch, M.W.3


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