Volume 5, Issue 3, September 2020, Page: 29-36
The Role of PTPN22 in Rehumatiode Arthritis and Type 1 Diabeties a Non-MHC Complex Linked
Fawad Akthar, Department of Biotechnology, Islamic International University, Islamabad, Pakistan
Muhammad Zeeshan, Department of Bioinformatics, Hazara University, Manshera Kpk, Pakistan
Sajid Ali, Department of Biotechnology, Abdul Wali Khan University, Mardan Kpk, Pakistan
Faisal Nouroz, Department of Bioinformatics, Hazara University, Manshera Kpk, Pakistan
Sara Khan, Department of Bioinformatics, Hazara University, Manshera Kpk, Pakistan
Fazal Jalil, Department of Biotechnology, Abdul Wali Khan University, Mardan Kpk, Pakistan
Uswa Sajid, Department of Zoology, Hazara University, Mansehra Kpk, Pakistan
Hira Ikram, Department of Biochemistry, Abdul Wali Khan University, Mardan Kpk, Pakistan
Faheem Anwar, Department of Genetics, Hazara University, Mansehra Kpk, Pakistan
Received: Sep. 30, 2019;       Accepted: Jun. 30, 2020;       Published: Oct. 30, 2020
DOI: 10.11648/j.bmb.20200503.11      View  62      Downloads  15
Abstract
Rheumatoid Arthritis and Type One Diabetes are devastating clinical conditions characterized by the Autoantibody production against self, affecting up to 5% of population which, ultimately leads to a destruction of cartilage, bones and, insulin; producing Beta cells of Pancreas. As both environmental and genetic factors contribute to these conditions (50-60%). The focus of our review is to enlist that either combined evidence shows the association of Protein Tyrosine Phosphatase Non-receptor type 22 C1858T Polymorphism with these two devastating conditions are not. A minor but most prominent allele of Protein Tyrosine Phosphatase Non-receptor type 22 gene, W620, plays a crucial role in the disease initiation process. The web sources we use for data collection were Google Scholar, PubMed, Online Mendelian Inheritance in Man, and Science Direct. At the same time, the Mesh term of our search was the role of Protein Tyrosine Phosphatase Non-receptor type 22 gene, Single Nucleotide Polymorphism C1858T, 620W, Arg620Trp in Rheumatoid Arthritis and Type One Diabetes. The data set was consist of 210 research articles, which reviewed critically; 73 highly related articles were selected for data extraction to give knowledge to the reader at a glance. Also, taking into account the futuristic perspective for researchers that need further evaluation and will ultimately lead to drug development that will aid enhancement in therapeutics.
Keywords
Autoimmune, Devastating, Evidence, Glance, Insulin, Mesh, Monogenic, Prominent
To cite this article
Fawad Akthar, Muhammad Zeeshan, Sajid Ali, Faisal Nouroz, Sara Khan, Fazal Jalil, Uswa Sajid, Hira Ikram, Faheem Anwar, The Role of PTPN22 in Rehumatiode Arthritis and Type 1 Diabeties a Non-MHC Complex Linked, Biochemistry and Molecular Biology. Vol. 5, No. 3, 2020, pp. 29-36. doi: 10.11648/j.bmb.20200503.11
Copyright
Copyright © 2020 Authors retain the copyright of this article.
This article is an open access article distributed under the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/) which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
Reference
[1]
Hensvold, A. H., et al., Environmental and genetic factors in the development of anticitrullinated protein antibodies (ACPAs) and ACPA-positive rheumatoid arthritis: an epidemiological investigation in twins. Annals of the rheumatic diseases, 2015. 74 (2): p. 375-380.
[2]
Moosavi, M.-S. and H. Barati, Salivary gland performance in autoimmune diseases: review and meta-analysis. Acta Clinica Belgica, 2018: p. 1-7.
[3]
Kridin, K., et al., Ulcerative colitis associated with pemphigus: a population-based large-scale study. Scandinavian journal of gastroenterology, 2017. 52 (12): p. 1360-1364.
[4]
Marrack, P., J. Kappler, and B. L. Kotzin, Autoimmune disease: why and where it occurs. Nature medicine, 2001. 7 (8): p. 899-905.
[5]
Prahalad, S., et al., Increased prevalence of familial autoimmunity in simplex and multiplex families with juvenile rheumatoid arthritis. Arthritis & Rheumatism, 2002. 46 (7): p. 1851-1856.
[6]
Zenewicz, L. A., et al., Unraveling the genetics of autoimmunity. Cell, 2010. 140 (6): p. 791-797.
[7]
Fernando, M. M., et al., Defining the role of the MHC in autoimmunity: a review and pooled analysis. PLoS Genet, 2008. 4 (4): p. e1000024.
[8]
Cohen, S., et al., Cloning and characterization of a lymphoid-specific, inducible human protein tyrosine phosphatase, Lyp. Blood, 1999. 93 (6): p. 2013-2024.
[9]
Bottini, N., et al., A functional variant of lymphoid tyrosine phosphatase is associated with type I diabetes. Nature Genetics, 2004. 36 (4): p. 337-338.
[10]
Criswell, L. A., et al., Analysis of families in the multiple autoimmune disease genetics consortium (MADGC) collection: the PTPN22 620W allele associates with multiple autoimmune phenotypes. The American Journal of Human Genetics, 2005. 76 (4): p. 561-571.
[11]
Hinks, A., et al., Association between the PTPN22 gene and rheumatoid arthritis and juvenile idiopathic arthritis in a UK population: further support that PTPN22 is an autoimmunity gene. Arthritis & Rheumatism, 2005. 52 (6): p. 1694-1699.
[12]
Lee, A., et al., The PTPN22 R620W polymorphism associates with RF positive rheumatoid arthritis in a dose-dependent manner but not with HLA-SE status. Genes and immunity, 2005. 6 (2): p. 129-133.
[13]
Orozco, G., et al., Association of a functional single‐nucleotide polymorphism of PTPN22, encoding lymphoid protein phosphatase, with rheumatoid arthritis and systemic lupus erythematosus. Arthritis & Rheumatism, 2005. 52 (1): p. 219-224.
[14]
Santiago, J. L., et al., Susceptibility to type 1 diabetes conferred by the PTPN22 C1858T polymorphism in the Spanish population. BMC medical genetics, 2007. 8 (1): p. 1.
[15]
Steer, S., et al., Association of R602W in a protein tyrosine phosphatase gene with a high risk of rheumatoid arthritis in a British population: evidence for an early onset/disease severity effect. Arthritis & Rheumatism, 2005. 52 (1): p. 358-360.
[16]
Van Oene, M., et al., Association of the lymphoid tyrosine phosphatase R620W variant with rheumatoid arthritis, but not Crohn's disease, in Canadian populations. Arthritis & Rheumatism, 2005. 52 (7): p. 1993-1998.
[17]
Velaga, M., et al., The codon 620 tryptophan allele of the lymphoid tyrosine phosphatase (LYP) gene is a major determinant of Graves’ disease. The Journal of Clinical Endocrinology & Metabolism, 2004. 89 (11): p. 5862-5865.
[18]
Menard, L., et al., The PTPN22 allele encoding an R620W variant interferes with the removal of developing autoreactive B cells in humans. The Journal of clinical investigation, 2011. 121 (9): p. 3635-3644.
[19]
Zhang, J., et al., The autoimmune disease-associated PTPN22 variant promotes calpain-mediated Lyp/Pep degradation associated with lymphocyte and dendritic cell hyperresponsiveness. Nature genetics, 2011. 43 (9): p. 902-907.
[20]
Wu, J., et al., Identification of substrates of human protein-tyrosine phosphatase PTPN22. Journal of Biological Chemistry, 2006. 281 (16): p. 11002-11010.
[21]
Stanford, S. M. and N. Bottini, PTPN22: the archetypal non-HLA autoimmunity gene. Nature Reviews Rheumatology, 2014. 10 (10): p. 602-611.
[22]
Brownlie, R. J., et al., Lack of the phosphatase PTPN22 increases adhesion of murine regulatory T cells to improve their immunosuppressive function. Sci. Signal., 2012. 5 (252): p. ra87-ra87.
[23]
Diaz-Gallo, L.-M. and J. Martin, PTPN22 splice forms: a new role in rheumatoid arthritis. Genome medicine, 2012. 4 (2): p. 1.
[24]
Ronninger, M., et al., The balance of expression of PTPN22 splice forms is significantly different in rheumatoid arthritis patients compared with controls. Genome medicine, 2012. 4 (1): p. 1.
[25]
Begovich, A. B., et al., A missense single-nucleotide polymorphism in a gene encoding a protein tyrosine phosphatase (PTPN22) is associated with rheumatoid arthritis. The American Journal of Human Genetics, 2004. 75 (2): p. 330-337.
[26]
Stanford, S. M., T. M. Mustelin, and N. Bottini. Lymphoid tyrosine phosphatase and autoimmunity: human genetics rediscovers tyrosine phosphatases. in Seminars in immunopathology. 2010. Springer.
[27]
Rodríguez‐Rodríguez, L., et al., The PTPN22 R263Q polymorphism is a risk factor for rheumatoid arthritis in Caucasian case–control samples. Arthritis & Rheumatism, 2011. 63 (2): p. 365-372.
[28]
Totaro, M. C., et al., PTPN22 1858C> T polymorphism distribution in Europe and association with rheumatoid arthritis: case-control study and meta-analysis. PLoS One, 2011. 6 (9): p. e24292.
[29]
Bottini, N. and E. J. Peterson, Tyrosine phosphatase PTPN22: multifunctional regulator of immune signaling, development, and disease. Annual review of immunology, 2014. 32: p. 83-119.
[30]
Carlton, V. E., et al., PTPN22 genetic variation: evidence for multiple variants associated with rheumatoid arthritis. The American Journal of Human Genetics, 2005. 77 (4): p. 567-581.
[31]
Ikari, K., et al., Haplotype analysis revealed no association between the PTPN22 gene and RA in a Japanese population. Rheumatology, 2006. 45 (11): p. 1345-1348.
[32]
Simkins, H., et al., Association of the PTPN22 locus with rheumatoid arthritis in a New Zealand Caucasian cohort. Arthritis & Rheumatism, 2005. 52 (7): p. 2222-2225.
[33]
King, H., R. E. Aubert, and W. H. Herman, Global burden of diabetes, 1995–2025: prevalence, numerical estimates, and projections. Diabetes care, 1998. 21 (9): p. 1414-1431.
[34]
Bell, P. R., et al., KMJ.
[35]
Azar, S. T., et al., Type I (insulin-dependent) diabetes is a Th1-and Th2-mediated autoimmune disease. Clinical and diagnostic laboratory immunology, 1999. 6 (3): p. 306-310.
[36]
Hirschhorn, J. N., Genetic epidemiology of type 1 diabetes. Pediatric diabetes, 2003. 4 (2): p. 87-100.
[37]
Maier, L. M. and L. S. Wicker, Genetic susceptibility to type 1 diabetes. Current opinion in immunology, 2005. 17 (6): p. 601-608.
[38]
Gepts, W., Pathologic anatomy of the pancreas in juvenile diabetes mellitus. Diabetes, 1965. 14 (10): p. 619-633.
[39]
Roep, B. O., et al., T-cell clones from a type-1 diabetes patient respond to insulin secretory granule proteins. Nature, 1990. 345 (6276): p. 632-634.
[40]
Ziegler, A.-G., et al., Autoantibody appearance and risk for development of childhood diabetes in offspring of parents with type 1 diabetes: the 2-year analysis of the German BABYDIAB Study. Diabetes, 1999. 48 (3): p. 460-468.
[41]
Kukko, M., et al., Dynamics of diabetes-associated autoantibodies in young children with human leukocyte antigen-conferred risk of type 1 diabetes recruited from the general population. The Journal of Clinical Endocrinology & Metabolism, 2005. 90 (5): p. 2712-2717.
[42]
LaGasse, J. M., et al., Successful prospective prediction of type 1 diabetes in schoolchildren through multiple defined autoantibodies an 8-year follow-up of the Washington State Diabetes Prediction Study. Diabetes Care, 2002. 25 (3): p. 505-511.
[43]
Cinek, O., et al., No independent role of the− 1123 G> C and+ 2740 A> G variants in the association of PTPN22 with type 1 diabetes and juvenile idiopathic arthritis in two Caucasian populations. Diabetes research and clinical practice, 2007. 76 (2): p. 297-303.
[44]
Zheng, W. and J.-X. She, Genetic association between a lymphoid tyrosine phosphatase (PTPN22) and type 1 diabetes. Diabetes, 2005. 54 (3): p. 906-908.
[45]
Marron, M. P., et al., Insulin-dependent diabetes mellitus (IDDM) is associated with CTLA4 polymorphisms in multiple ethnic groups. Human molecular genetics, 1997. 6 (8): p. 1275-1282.
[46]
Luo, D.-F., et al., Confirmation of three susceptibility genes to insulin-dependent diabetes mellitus: IDDM4, IDDM5 and IDDM8. Human molecular genetics, 1996. 5 (5): p. 693-698.
[47]
Luo, D.-F., et al., Affected-sib-pair mapping of a novel susceptibility gene to insulin-dependent diabetes mellitus (IDDM8) on chromosome 6q25-q27. American journal of human genetics, 1995. 57 (4): p. 911.
[48]
Saccucci, P., et al., Association between PTPN22 C1858T and type 1 diabetes: a replication in continental Italy. Tissue antigens, 2008. 71 (3): p. 234-237.
[49]
Chelala, C., et al., PTPN22 R620W functional variant in type 1 diabetes and autoimmunity related traits. Diabetes, 2007. 56 (2): p. 522-526.
[50]
Ghandil, P., et al., Crohn’s disease associated CARD15 (NOD2) variants are not involved in the susceptibility to type 1 diabetes. Molecular genetics and metabolism, 2005. 86 (3): p. 379-383.
[51]
Holm, P., et al., the European Consortium for IDDM Genetic Studies: A genome-wide scan for type 1 diabetes susceptibility genes in Scandinavian families: identification of new loci with evidence of interactions. Am J Hum Genet, 2001. 69: p. 1301-1313.
[52]
Maine, C. J., et al., PTPN22 alters the development of regulatory T cells in the thymus. The Journal of Immunology, 2012. 188 (11): p. 5267-5275.
[53]
Kissler, S., et al., In vivo RNA interference demonstrates a role for Nramp1 in modifying susceptibility to type 1 diabetes. Nature genetics, 2006. 38 (4): p. 479-483.
[54]
Herold, M. J., et al., Inducible and reversible gene silencing by stable integration of an shRNA-encoding lentivirus in transgenic rats. Proceedings of the National Academy of Sciences, 2008. 105 (47): p. 18507-18512.
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