메뉴 건너뛰기




Volumn 5, Issue DEC, 2015, Pages

Genetic variations of PTPN2 and PTPN22: Role in the pathogenesis of Type 1 diabetes and Crohn's disease

Author keywords

Autoimmunity; Crohn's disease; Genetics; Immunity; PTPN2; PTPN22; PTPs; T1D

Indexed keywords

NON RECEPTOR PROTEIN TYROSINE PHOSPHATASE 2; NON RECEPTOR PROTEIN TYROSINE PHOSPHATASE 22; TRANSCRIPTION FACTOR FOXP3; PTPN2 PROTEIN, HUMAN; PTPN22 PROTEIN, HUMAN;

EID: 85006219624     PISSN: None     EISSN: 22352988     Source Type: Journal    
DOI: 10.3389/fcimb.2015.00095     Document Type: Review
Times cited : (61)

References (38)
  • 1
    • 48349136889 scopus 로고    scopus 로고
    • Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease
    • Barrett, J. C., Hansoul, S., Nicolae, D. L., Cho, J. H., Duerr, R. H., Rioux, J. D., et al. (2008). Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease. Nat. Genet. 40, 955-962. doi: 10.1038/ng.175
    • (2008) Nat. Genet , vol.40 , pp. 955-962
    • Barrett, J.C.1    Hansoul, S.2    Nicolae, D.L.3    Cho, J.H.4    Duerr, R.H.5    Rioux, J.D.6
  • 2
    • 81755179431 scopus 로고    scopus 로고
    • Why is PTPN22 a good candidate susceptibility gene for autoimmune disease?
    • Burn, G. L., Svensson, L., Sanchez-Blanco, C., Saini, M., and Cope, A. P. (2011). Why is PTPN22 a good candidate susceptibility gene for autoimmune disease? FEBS Lett. 585, 3689-3698. doi: 10.1016/j.febslet.2011.04.032
    • (2011) FEBS Lett , vol.585 , pp. 3689-3698
    • Burn, G.L.1    Svensson, L.2    Sanchez-Blanco, C.3    Saini, M.4    Cope, A.P.5
  • 3
    • 84879544624 scopus 로고    scopus 로고
    • Protein tyrosine phosphatases and type 1 diabetes: genetic and functional implications of PTPN2 and PTPN22
    • Cerosaletti, K., and Buckner, J. H. (2012). Protein tyrosine phosphatases and type 1 diabetes: genetic and functional implications of PTPN2 and PTPN22. Rev. Diabet. Stud. 9, 188-200. doi: 10.1900/RDS.2012.9.188
    • (2012) Rev. Diabet. Stud , vol.9 , pp. 188-200
    • Cerosaletti, K.1    Buckner, J.H.2
  • 4
    • 77956670191 scopus 로고    scopus 로고
    • T-cell protein tyrosine phosphatase: a role in inflammation and autoimmunity
    • Chistiakova, D. A., and Chistiakova, E. I. (2010). T-cell protein tyrosine phosphatase: a role in inflammation and autoimmunity. Int. J. Diabetes Mellit. 2, 114-118. doi: 10.1016/j.ijdm.2010.05.012
    • (2010) Int. J. Diabetes Mellit , vol.2 , pp. 114-118
    • Chistiakova, D.A.1    Chistiakova, E.I.2
  • 6
    • 84886023656 scopus 로고    scopus 로고
    • Combining genetic association study designs: a GWAS case study
    • Estus, J. L., and Family Investigation of Nephropathy Diabetes Research Group, Fardo, D. W. (2013). Combining genetic association study designs: a GWAS case study. Front. Genet. 4:186. doi: 10.3389/fgene.2013.00186
    • (2013) Front. Genet , vol.4 , pp. 186
    • Estus, J.L.1
  • 8
    • 77955352846 scopus 로고    scopus 로고
    • T-cell protein tyrosine phosphatase attenuates STAT3 and insulin signaling in the liver to regulate gluconeogenesis
    • Fukushima, A., Loh, K., Galic, S., Fam, B., Shields, B., Wiede, F., et al. (2010). T-cell protein tyrosine phosphatase attenuates STAT3 and insulin signaling in the liver to regulate gluconeogenesis. Diabetes 59, 1906-1914. doi: 10.2337/db09-1365
    • (2010) Diabetes , vol.59 , pp. 1906-1914
    • Fukushima, A.1    Loh, K.2    Galic, S.3    Fam, B.4    Shields, B.5    Wiede, F.6
  • 9
    • 33646524724 scopus 로고    scopus 로고
    • Lymphoid tyrosine phosphatase (LYP/PTPN22) Arg620Trp variant regulates insulin autoimmunity and progression to type 1 diabetes
    • Hermann, R., Lipponen, K., Kiviniemi, M., Kakko, T., Veijola, R., Simell, O., et al. (2006). Lymphoid tyrosine phosphatase (LYP/PTPN22) Arg620Trp variant regulates insulin autoimmunity and progression to type 1 diabetes. Diabetologia 49, 1198-1208. doi: 10.1007/s00125-006-0225-4
    • (2006) Diabetologia , vol.49 , pp. 1198-1208
    • Hermann, R.1    Lipponen, K.2    Kiviniemi, M.3    Kakko, T.4    Veijola, R.5    Simell, O.6
  • 10
    • 77951666052 scopus 로고    scopus 로고
    • Pathogenesis of type 1 diabetes mellitus: interplay between enterovirus and host
    • Hober, D., and Sauter, P. (2010). Pathogenesis of type 1 diabetes mellitus: interplay between enterovirus and host. Nat. Rev. Endocrinol. 6, 279-289. doi: 10.1038/nrendo.2010.27
    • (2010) Nat. Rev. Endocrinol , vol.6 , pp. 279-289
    • Hober, D.1    Sauter, P.2
  • 11
    • 11144266638 scopus 로고    scopus 로고
    • Association of the single nucleotide polymorphism C1858T of the PTPN22 gene with type 1 diabetes
    • Ladner, M. B., Bottini, N., Valdes, A. M., and Noble, J. A. (2005). Association of the single nucleotide polymorphism C1858T of the PTPN22 gene with type 1 diabetes. Hum. Immunol. 66, 60-64. doi: 10.1016/j.humimm.2004.09.016
    • (2005) Hum. Immunol , vol.66 , pp. 60-64
    • Ladner, M.B.1    Bottini, N.2    Valdes, A.M.3    Noble, J.A.4
  • 13
    • 84861975912 scopus 로고    scopus 로고
    • Regulation of epithelial barrier function by the inflammatory bowel disease candidate gene, PTPN2
    • McCole, D. F. (2012). Regulation of epithelial barrier function by the inflammatory bowel disease candidate gene, PTPN2. Ann. N. Y. Acad. Sci. 1257, 108-114. doi: 10.1111/j.1749-6632.2012.06522.x
    • (2012) Ann. N. Y. Acad. Sci , vol.1257 , pp. 108-114
    • McCole, D.F.1
  • 14
    • 80052376347 scopus 로고    scopus 로고
    • The PTPN22 allele encoding an R620W variant interferes with the removal of developing autoreactive B cells in humans
    • Menard, L., Saadoun, D., Isnardi, I., Ng, Y. S., Meyers, G., Massad, C., et al. (2011). The PTPN22 allele encoding an R620W variant interferes with the removal of developing autoreactive B cells in humans. J. Clin. Invest. 121, 3635-3644. doi: 10.1172/JCI45790
    • (2011) J. Clin. Invest , vol.121 , pp. 3635-3644
    • Menard, L.1    Saadoun, D.2    Isnardi, I.3    Ng, Y.S.4    Meyers, G.5    Massad, C.6
  • 15
    • 4544279029 scopus 로고    scopus 로고
    • Culture of Mycobacterium avium subspecies paratuberculosis from the blood of patients with Crohn's disease
    • Naser, S. A., Ghobrial, G., Romero, C., and Valentine, J. F. (2004). Culture of Mycobacterium avium subspecies paratuberculosis from the blood of patients with Crohn's disease. Lancet 364, 1039-1044. doi: 10.1016/S0140-6736(04)17058-X
    • (2004) Lancet , vol.364 , pp. 1039-1044
    • Naser, S.A.1    Ghobrial, G.2    Romero, C.3    Valentine, J.F.4
  • 16
    • 0034075091 scopus 로고    scopus 로고
    • Isolation of Mycobacterium avium subsp paratuberculosis from breast milk of Crohn's disease patients
    • Naser, S. A., Schwartz, D., and Shafran, I. (2000). Isolation of Mycobacterium avium subsp paratuberculosis from breast milk of Crohn's disease patients. Am. J. Gastroenterol. 95, 1094-1095. doi: 10.1111/j.1572-0241.2000.01954.x
    • (2000) Am. J. Gastroenterol , vol.95 , pp. 1094-1095
    • Naser, S.A.1    Schwartz, D.2    Shafran, I.3
  • 17
    • 84878815827 scopus 로고    scopus 로고
    • Exploring the role of Mycobacterium avium subspecies paratuberculosis in the pathogenesis of type 1 diabetes mellitus: a pilot study
    • Naser, S. A., Thanigachalam, S., Dow, C. T., and Collins, M. T. (2013). Exploring the role of Mycobacterium avium subspecies paratuberculosis in the pathogenesis of type 1 diabetes mellitus: a pilot study. Gut Pathog. 5:14. doi: 10.1186/1757-4749-5-14
    • (2013) Gut Pathog , vol.5 , pp. 14
    • Naser, S.A.1    Thanigachalam, S.2    Dow, C.T.3    Collins, M.T.4
  • 18
    • 84942193176 scopus 로고    scopus 로고
    • Prevalence of Mycobacterium avium subsp. paratuberculosis and Escherichia coli in blood samples from patients with inflammatory bowel disease
    • Nazareth, N., Magro, F., Machado, E., Ribeiro, T. G., Martinho, A., Rodrigues, P., et al. (2015). Prevalence of Mycobacterium avium subsp. paratuberculosis and Escherichia coli in blood samples from patients with inflammatory bowel disease. Med. Microbiol. Immunol. 204, 681-692. doi: 10.1007/s00430-015-0420-3
    • (2015) Med. Microbiol. Immunol , vol.204 , pp. 681-692
    • Nazareth, N.1    Magro, F.2    Machado, E.3    Ribeiro, T.G.4    Martinho, A.5    Rodrigues, P.6
  • 19
    • 34250675278 scopus 로고    scopus 로고
    • Current and future anti-TNF therapy for inflammatory bowel disease
    • Osterman, M. T., and Lichtenstein, G. R. (2007). Current and future anti-TNF therapy for inflammatory bowel disease. Curr. Treat. Options Gastroenterol. 10, 195-207. doi: 10.1007/s11938-007-0013-3
    • (2007) Curr. Treat. Options Gastroenterol , vol.10 , pp. 195-207
    • Osterman, M.T.1    Lichtenstein, G.R.2
  • 20
    • 84911410681 scopus 로고    scopus 로고
    • Identification of novel risk genes associated with type 1 diabetes mellitus using a genome-wide gene-based association analysis
    • Qiu, Y. H., Deng, F. Y., Li, M. J., and Lei, S. F. (2014). Identification of novel risk genes associated with type 1 diabetes mellitus using a genome-wide gene-based association analysis. J. Diabetes Investig. 5, 649-656. doi: 10.1111/jdi.12228
    • (2014) J. Diabetes Investig , vol.5 , pp. 649-656
    • Qiu, Y.H.1    Deng, F.Y.2    Li, M.J.3    Lei, S.F.4
  • 21
    • 82255185820 scopus 로고    scopus 로고
    • PTPN2, a candidate gene for type 1 diabetes, modulates pancreatic beta-cell apoptosis via regulation of the BH3-only protein Bim
    • Santin, I., Moore, F., Colli, M. L., Gurzov, E. N., Marselli, L., Marchetti, P., et al. (2011). PTPN2, a candidate gene for type 1 diabetes, modulates pancreatic beta-cell apoptosis via regulation of the BH3-only protein Bim. Diabetes 60, 3279-3288. doi: 10.2337/db11-0758
    • (2011) Diabetes , vol.60 , pp. 3279-3288
    • Santin, I.1    Moore, F.2    Colli, M.L.3    Gurzov, E.N.4    Marselli, L.5    Marchetti, P.6
  • 22
    • 33745775434 scopus 로고    scopus 로고
    • Mechanisms of disease: pathogenesis of Crohn's disease and ulcerative colitis
    • Sartor, R. B. (2006). Mechanisms of disease: pathogenesis of Crohn's disease and ulcerative colitis. Nat. Clin. Pract. Gastroenterol. Hepatol. 3, 390-407. doi: 10.1038/ncpgasthep0528
    • (2006) Nat. Clin. Pract. Gastroenterol. Hepatol , vol.3 , pp. 390-407
    • Sartor, R.B.1
  • 23
    • 84858683881 scopus 로고    scopus 로고
    • Crohn's disease-associated polymorphism within the PTPN2 gene affects muramyl-dipeptide-induced cytokine secretion and autophagy
    • Scharl, M., Mwinyi, J., Fischbeck, A., Leucht, K., Eloranta, J. J., Arikkat, J., et al. (2012a). Crohn's disease-associated polymorphism within the PTPN2 gene affects muramyl-dipeptide-induced cytokine secretion and autophagy. Inflamm. Bowel Dis. 18, 900-912. doi: 10.1002/ibd.21913
    • (2012) Inflamm. Bowel Dis , vol.18 , pp. 900-912
    • Scharl, M.1    Mwinyi, J.2    Fischbeck, A.3    Leucht, K.4    Eloranta, J.J.5    Arikkat, J.6
  • 24
    • 70649104669 scopus 로고    scopus 로고
    • Protection of epithelial barrier function by the Crohn's disease associated gene protein tyrosine phosphatase n2
    • e2035
    • Scharl, M., Paul, G., Weber, A., Jung, B. C., Docherty, M. J., Hausmann, M., et al. (2009). Protection of epithelial barrier function by the Crohn's disease associated gene protein tyrosine phosphatase n2. Gastroenterology 137, 2030-2040. e2035. doi: 10.1053/j.gastro.2009.07.078
    • (2009) Gastroenterology , vol.137 , pp. 2030-2040
    • Scharl, M.1    Paul, G.2    Weber, A.3    Jung, B.C.4    Docherty, M.J.5    Hausmann, M.6
  • 25
    • 84861994381 scopus 로고    scopus 로고
    • The role for protein tyrosine phosphatase nonreceptor type 2 in regulating autophagosome formation
    • Scharl, M., and Rogler, G. (2012). The role for protein tyrosine phosphatase nonreceptor type 2 in regulating autophagosome formation. Ann. N. Y. Acad. Sci. 1257, 93-102. doi: 10.1111/j.1749-6632.2012.06578.x
    • (2012) Ann. N. Y. Acad. Sci , vol.1257 , pp. 93-102
    • Scharl, M.1    Rogler, G.2
  • 26
    • 84862194557 scopus 로고    scopus 로고
    • Protein tyrosine phosphatase nonreceptor type 2 regulates autophagosome formation in human intestinal cells
    • Scharl, M., Wojtal, K. A., Becker, H. M., Fischbeck, A., Frei, P., Arikkat, J., et al. (2012b). Protein tyrosine phosphatase nonreceptor type 2 regulates autophagosome formation in human intestinal cells. Inflamm. Bowel Dis. 18, 1287-1302. doi: 10.1002/ibd.21891
    • (2012) Inflamm. Bowel Dis , vol.18 , pp. 1287-1302
    • Scharl, M.1    Wojtal, K.A.2    Becker, H.M.3    Fischbeck, A.4    Frei, P.5    Arikkat, J.6
  • 27
    • 58149091678 scopus 로고    scopus 로고
    • Shared and distinct genetic variants in type 1 diabetes and celiac disease
    • Smyth, D. J., Plagnol, V., Walker, N. M., Cooper, J. D., Downes, K., Yang, J. H., et al. (2008). Shared and distinct genetic variants in type 1 diabetes and celiac disease. N. Engl. J. Med. 359, 2767-2777. doi: 10.1056/NEJMoa0807917
    • (2008) N. Engl. J. Med , vol.359 , pp. 2767-2777
    • Smyth, D.J.1    Plagnol, V.2    Walker, N.M.3    Cooper, J.D.4    Downes, K.5    Yang, J.H.6
  • 28
    • 84932646107 scopus 로고    scopus 로고
    • PTPN2 controls differentiation of CD4(+) T cells and limits intestinal inflammation and intestinal dysbiosis
    • Spalinger, M. R., Kasper, S., Chassard, C., Raselli, T., Frey-Wagner, I., Gottier, C., et al. (2015). PTPN2 controls differentiation of CD4(+) T cells and limits intestinal inflammation and intestinal dysbiosis. Mucosal Immunol. 8, 918-929. doi: 10.1038/mi.2014.122
    • (2015) Mucosal Immunol , vol.8 , pp. 918-929
    • Spalinger, M.R.1    Kasper, S.2    Chassard, C.3    Raselli, T.4    Frey-Wagner, I.5    Gottier, C.6
  • 29
    • 84883082859 scopus 로고    scopus 로고
    • Protein tyrosine phosphatase non-receptor type 22 modulates NOD2-induced cytokine release and autophagy
    • Spalinger, M. R., Lang, S., Vavricka, S. R., Fried, M., Rogler, G., and Scharl, M. (2013a). Protein tyrosine phosphatase non-receptor type 22 modulates NOD2-induced cytokine release and autophagy. PLoS ONE 8:e72384. doi: 10.1371/journal.pone.0072384
    • (2013) PLoS ONE , vol.8
    • Spalinger, M.R.1    Lang, S.2    Vavricka, S.R.3    Fried, M.4    Rogler, G.5    Scharl, M.6
  • 30
    • 84876463917 scopus 로고    scopus 로고
    • Loss of protein tyrosine phosphatase nonreceptor type 22 regulates interferon-gamma-induced signaling in human monocytes
    • e910
    • Spalinger, M. R., Lang, S., Weber, A., Frei, P., Fried, M., Rogler, G., et al. (2013b). Loss of protein tyrosine phosphatase nonreceptor type 22 regulates interferon-gamma-induced signaling in human monocytes. Gastroenterology 144, 978-988. e910. doi: 10.1053/j.gastro.2013.01.048
    • (2013) Gastroenterology , vol.144 , pp. 978-988
    • Spalinger, M.R.1    Lang, S.2    Weber, A.3    Frei, P.4    Fried, M.5    Rogler, G.6
  • 31
    • 77951926420 scopus 로고    scopus 로고
    • Etiology of type 1 diabetes
    • Todd, J. A. (2010). Etiology of type 1 diabetes. Immunity 32, 457-467. doi: 10.1016/j.immuni.2010.04.001
    • (2010) Immunity , vol.32 , pp. 457-467
    • Todd, J.A.1
  • 32
    • 78751662679 scopus 로고    scopus 로고
    • Type 1 diabetes: etiology, immunology, and therapeutic strategies
    • van Belle, T. L., Coppieters, K. T., and von Herrath, M. G. (2011). Type 1 diabetes: etiology, immunology, and therapeutic strategies. Physiol. Rev. 91, 79-118. doi: 10.1152/physrev.00003.2010
    • (2011) Physiol. Rev , vol.91 , pp. 79-118
    • van Belle, T.L.1    Coppieters, K.T.2    von Herrath, M.G.3
  • 33
    • 28444469783 scopus 로고    scopus 로고
    • Autoimmune-associated lymphoid tyrosine phosphatase is a gain-of-function variant
    • Vang, T., Congia, M., Macis, M. D., Musumeci, L., Orrú, V., Zavattari, P., et al. (2005). Autoimmune-associated lymphoid tyrosine phosphatase is a gain-of-function variant. Nat. Genet. 37, 1317-1319. doi: 10.1038/ng1673
    • (2005) Nat. Genet , vol.37 , pp. 1317-1319
    • Vang, T.1    Congia, M.2    Macis, M.D.3    Musumeci, L.4    Orrú, V.5    Zavattari, P.6
  • 34
    • 0041689676 scopus 로고    scopus 로고
    • Predominant autoantibody production by early human B cell precursors
    • Wardemann, H., Yurasov, S., Schaefer, A., Young, J. W., Meffre, E., and Nussenzweig, M. C. (2003). Predominant autoantibody production by early human B cell precursors. Science 301, 1374-1377. doi: 10.1126/science.1086907
    • (2003) Science , vol.301 , pp. 1374-1377
    • Wardemann, H.1    Yurasov, S.2    Schaefer, A.3    Young, J.W.4    Meffre, E.5    Nussenzweig, M.C.6
  • 35
    • 84926420809 scopus 로고    scopus 로고
    • PTPN2 restrains CD8(+) T cell responses after antigen cross-presentation for the maintenance of peripheral tolerance in mice
    • Wiede, F., Ziegler, A., Zehn, D., and Tiganis, T. (2014). PTPN2 restrains CD8(+) T cell responses after antigen cross-presentation for the maintenance of peripheral tolerance in mice. J. Autoimmun. 53, 105-114. doi: 10.1016/j.jaut.2014.05.008
    • (2014) J. Autoimmun , vol.53 , pp. 105-114
    • Wiede, F.1    Ziegler, A.2    Zehn, D.3    Tiganis, T.4
  • 36
    • 84895464785 scopus 로고    scopus 로고
    • Autoimmunity-associated LYP-W620 does not impair thymic negative selection of autoreactive T cells
    • Wu, D. J., Zhou, W., Enouz, S., Orru, V., Stanford, S. M., Maine, C. J., et al. (2014). Autoimmunity-associated LYP-W620 does not impair thymic negative selection of autoreactive T cells. PLoS ONE 9:e86677. doi: 10.1371/journal.pone.0086677
    • (2014) PLoS ONE , vol.9
    • Wu, D.J.1    Zhou, W.2    Enouz, S.3    Orru, V.4    Stanford, S.M.5    Maine, C.J.6
  • 37
    • 84916597614 scopus 로고    scopus 로고
    • Pancreatic T cell protein-tyrosine phosphatase deficiency affects beta cell function in mice
    • Xi, Y., Liu, S., Bettaieb, A., Matsuo, K., Matsuo, I., Hosein, E., et al. (2015). Pancreatic T cell protein-tyrosine phosphatase deficiency affects beta cell function in mice. Diabetologia 58, 122-131. doi: 10.1007/s00125-014-3413-7
    • (2015) Diabetologia , vol.58 , pp. 122-131
    • Xi, Y.1    Liu, S.2    Bettaieb, A.3    Matsuo, K.4    Matsuo, I.5    Hosein, E.6
  • 38
    • 84874424163 scopus 로고    scopus 로고
    • PTPN22 silencing in the NOD model indicates the type 1 diabetes-associated allele is not a loss-of-function variant
    • Zheng, P., and Kissler, S. (2013). PTPN22 silencing in the NOD model indicates the type 1 diabetes-associated allele is not a loss-of-function variant. Diabetes 62, 896-904. doi: 10.2337/db12-0929
    • (2013) Diabetes , vol.62 , pp. 896-904
    • Zheng, P.1    Kissler, S.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.