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 ::  Abstract
 ::  Introduction
 ::  PTPN22 P...
 ::  PTPN22 Ge...
 ::  Future Prospects
 ::  References
 ::  Article Figures

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Year : 2010  |  Volume : 56  |  Issue : 3  |  Page : 239-242

PTPN22 gene polymorphisms in autoimmune diseases with special reference to systemic lupus erythematosus disease susceptibility

Department of Autoimmune Disorders, National Institute of Immunohaematology, Indian Council of Medical Research, 13th floor, KEM Hospital, Parel, Mumbai - 400 012, India

Date of Submission01-Mar-2010
Date of Decision22-Apr-2010
Date of Acceptance01-May-2010
Date of Web Publication23-Aug-2010

Correspondence Address:
V Pradhan
Department of Autoimmune Disorders, National Institute of Immunohaematology, Indian Council of Medical Research, 13th floor, KEM Hospital, Parel, Mumbai - 400 012
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/0022-3859.68651

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 :: Abstract 

Systemic lupus erythematosus (SLE) is a prototype autoimmune disease. SLE is a result of one or more immune mechanisms, like autoantibody production, complement activation, multiple inflammation and immune complex deposition leading to organ tissue damage. SLE affected patients are susceptible to common and opportunistic infections. There are several reports suggesting that Mycobacterium tuberculosis infection precipitates SLE in patients from endemic areas. Genetic factors and environmental factors also play an important role in the overall susceptibility to SLE pathophysiology. Recently, protein tyrosine phosphatase, non-receptor type 22 (PTPN22) gene, has been found to be associated with several autoimmune diseases like SLE, Grave's disease and Hashimoto thyroiditis. The missense R620W polymorphism, rs 2476601, in PTPN22 gene at the nucleotide 1858 in codon 620 (620Arg > Trp) has been associated with autoimmune diseases. The PTPN22 locus is also found to be responsible for development of pulmonary tuberculosis in certain populations. The PTPN22 1858C/T gene locus will be ideal to look for SLE susceptibility to tuberculosis in the Indian population. In this review, we focus on human PTPN22 gene structure and function as well as the association of PTPN22 gene polymorphisms with SLE susceptibility

Keywords: Autoimmune diseases, disease susceptibility, PTPN22 gene polymorphism, systemic lupus erythematosus

How to cite this article:
Pradhan V, Borse V, Ghosh K. PTPN22 gene polymorphisms in autoimmune diseases with special reference to systemic lupus erythematosus disease susceptibility. J Postgrad Med 2010;56:239-42

How to cite this URL:
Pradhan V, Borse V, Ghosh K. PTPN22 gene polymorphisms in autoimmune diseases with special reference to systemic lupus erythematosus disease susceptibility. J Postgrad Med [serial online] 2010 [cited 2023 Jun 5];56:239-42. Available from:

 :: Introduction Top

Systemic lupus erythematosus (SLE) is a systemic autoimmune disease characterized by the presence of autoantibodies to nuclear constituents and inflammatory lesions in multiple organ systems. The pathogenesis of SLE has a strong and complex genetic base. Molecular genetic studies, both in human and in experimental animal models, have identified important genes that contribute to SLE pathogenesis. Recently, three genome-wide association studies in Caucasian patients with SLE from international collaborations confirmed the known candidate genes for disease susceptibility, including human leucocyte antigen (HLA) like DR3, DR4, Fc gamma receptor IIA, IIIA and IIIB (Fcγ R), protein tyrosine phosphatase, non-receptor type 22 (PTPN22), signal transducer and activator of transcription 4 (STAT4) and interferon regulatory factor 5 (IRF5). [1]

The PTPN22 gene, located on chromosome 1p13, encodes lymphoid protein tyrosine phosphatase (LYP), which is important in negative control of T lymphocyte activation. LYP is expressed on T lymphocytes and associates with C-terminal Src Kinase (CSK) to form a complex that suppresses T cell receptor signaling kinases LCK and FYN. The missense R620W polymorphism in PTPN22 gene at the nucleotide 1858 (1858 C > T) in codon 620 (620Arg > Trp) has been associated with various autoimmune diseases. The disease-associated LYP variant Trp 620 prevents the interaction of LYP with CSK. Consequently, the T cell receptor-associated kinases might exhibit an uncontrolled T cell induction and this may increase the overall reactivity of the immune system thus predisposing an individual to autoimmune disease. [2]

 :: PTPN22 Polymorphism - Associated Autoimmune Diseases Top

The first study on the 1858C/T single-nucleotide polymorphism (SNP) in PTPN22 gene and its association with increased risk of type 1 diabetes (T1D) was reported in 2004, which was further confirmed in a large population. [3],[4],[5],[6] The 1858C/T SNP in PTPN22 gene was also reported in rheumatoid arthritis (RA), [7],[8],[9],[10],[11] juvenile idiopathic arthritis (JIA), [11],[12] SLE, [8],[12] Graves disease (GD), [13] Myasthenia Gravis, [14] generalized vitiligo [15] and Wegener's granulomatosis. [16] Interestingly, some autoimmune diseases were demonstrated not to be associated with the 1858T allele, including multiple sclerosis (MS), [17] inflammatory bowel diseases (IBD) such as Crohn's disease [18],[19],[20] and ulcerative colitis, [20],[21] celiac disease, [22] primary biliary cirrhosis, [23] psoriasis and psoriatic arthritis. [11]

In addition to the 1858C/T SNP (rs2476601), there are numerous other SNPs in the human PTPN22 gene. Some of these SNPs are shown in [Figure 1]. An initial investigation of the role of these other SNPs in RA patients confirmed that 1858C/T is the major disease-associated SNP in PTPN22, but also suggested minor involvement of at least one other SNP (rs3789604). [24] Subsequent studies have supported the notion that 1858C/T is the only SNP in PTPN22 associated with RA. [25],[26],[27] Similarly, T1D patients have also been investigated with regard to other SNPs in PTPN22. Kawasaki et al., (2006) had reported that a promoter SNP in PTPN22 (-G1123C, rs2488457) confers increased risk of T1D, supporting a role for 1858C/T as the major T1D-associated SNP in PTPN22.[28] However, it is still possible that additional polymorphisms may be discovered for PTPN22 that may independently relate to different and/or overlapping groups of autoimmune disorders. Huffmeier et al., (2006) reported that 1858C/T SNP was not associated with psoriasis but that there was evidence for a susceptibility locus for this disease somewhere else in PTPN22 or in its vicinity. [29] Studies on PTPN22 gene polymorphism in vitiligo showed that the 1858T allele is significantly overrepresented in vitiligo patients, indicating that LYP missense R620W polymorphism may have an influence on the development of generalized vitiligo, which further provides evidence for the autoimmunity as an etiology factor. [15],[30]
Figure 1 :PTPN22 structure with two transcript isoforms and six single nucleotide polymorphisms

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A metaanalysis has also confirmed the association between the 1858T allele and the diseases T1D, RA, JIA, SLE and GD. [31] Genetic studies with different populations revealed a clear geographic gradient with regard to the frequency of the disease-associated 1858T allele in Europe. Although this allele is relatively rare in southern European populations (2% in Italy, 6% in Spain), the frequency increases northward through Europe (8% in the United Kingdom, 12% in Sweden, 15.5% in Finland). Interestingly, in African-American and Asian populations, the 1858T allele is virtually absent, suggesting a northern European origin and/or selective advantage for the 1858T allele in this region. Nevertheless, an adequate number of studies have now been conducted to demonstrate that an autoimmune disease association with the 1858T allele is population-independent. [32]

 :: PTPN22 Gene Polymorphism and SLE Susceptibility Top

Genetic and environmental factors play an important role in the overall susceptibility to a prototype autoimmune disease, SLE and pathophysiology between the affected individuals. SLE has a complex genetic basis that includes many susceptible loci. PTPN22 has been reported as one of the susceptible loci where an SNP 1858C/T in the PTPN22 gene has been found to be associated. SLE patients are susceptible to common and opportunistic infections, which contributes significantly to morbidity and mortality in endemic areas. In many populations, infection is found to be the leading cause of death in SLE. Evidence suggests that in most of the cases opportunistic infections such as candidiasis, cryptococcal meningitis and tuberculosis (TB) leads to mortality. [33],[34],[35],[36] It was reported that the autoimmune disease risk allele of PTPN22 is associated with skewing of the serum cytokine profiles toward higher IFN alpha activity and lower TNF alpha levels in vivo in patients with SLE. This serum cytokine pattern may be relevant in other autoimmune diseases associated with the PTPN22 risk allele. Although, in general, PTPN22 appears to be coupled with the collection of autoimmune diseases that are typically characterized by circulating autoantibodies, the role of PTPN22 in autoantibody response may not necessarily be intrinsic to B cells but rather a consequence of altered T cell help.

An increased susceptibility to infections is due to an abnormal immune response and immunosuppressive therapy used in SLE. Several studies suggest that there is an increasing prevalence of TB infection, especially in the endemic parts of the world such as part of Asia, sub-Saharan Africa and central Europe. A possible role of prior TB infection in precipitating SLE in genetically predisposed patients had been reported. The PTPN22 locus is also found to be responsible for the development of pulmonary TB in certain populations. The PTPN22 1858C/T gene locus will be ideal to look for SLE susceptibility to TB in the Indian population. As Mycobacterium tuberculosis is a strong immunogen, and its product is used extensively as an adjuvant, there is the distinct possibility that in genetically predisposed individuals TB infection may precipitate in SLE. [37],[38],[39]

Lamsyah et al., 2003, had reported on the role for PTPN22 G788A (R263Q) in susceptibility to infectious diseases such as TB. The Q263 enzyme is a loss-of-function variant that is associated with reduced risk of lupus. [35] The association of the two PTPN22 gene variants [R620W(C1878T) and R263Q(G788A)] was found to be relevant in the opposite direction than the ones observed with autoimmunity. The protective effect of the T1858 allele against TB might contribute to the positive selective selection at this locus, which might explain its high frequency in selected populations, despite its role in increasing the risk of autoimmunity. PTPN22 seems to influence the susceptibility to pulmonary TB. The role of PTPN22 in TB and other infectious diseases warrants further investigation. The protective effects of the gain-of-function W620 PTPN22 variant in TB suggest that PTPN22 could be a target for novel pharmacological approaches to the therapy of TB.

 :: Future Prospects Top

A candidate biomarker approach is based on the study of known factors that are thought to be involved in disease pathogenesis to identify biomarkers. [ 40],[41] Lack of validated biomarkers for disease activity has been a barrier to drug discovery for the treatment of autoimmune diseases. There is a need to explore the genetic association of PTPN22 1858C/T gene polymorphism with SLE susceptibility to TB in the diverse populations of India. If the PTPN22- Trp620 gain-of-function phenotype has a pathogenic role in human autoimmunity, a specific small molecular inhibitor could be useful to prevent the emergence of autoreactive T-cells. Such a drug could be of broader value for the treatment of autoimmune diseases. [42] Gene therapy is an attractive alternative for systemic protein delivery systems. Gene therapy can be considered as an alternative therapeutic approach to replace the function of the mutant or aberrant gene. This approach of synthesizing therapeutic protein in vivo allows minimizing possible side-effects. Local delivery of PTPN22 gene alone or in association with other SLE-related genes in SLE patients can turn out to become a possible therapeutic approach with several potential advantages over systemic forms of targeted therapy. Several strategies for successful delivery of DNA are available and new techniques are constantly emerging. New vectors (viral and non-viral) continue to become the most promising treatments for a number of autoimmune diseases. However, additional safety studies involving pharmacokinetics, biodistribution and toxicity will need to be accurately evaluated in experimental animal models. [43]

 :: References Top

1.Harley JB, Alrcon-Riquelme ME, Criswell LA, Jacob CO, Kimberly RP, Moser KL, et al. Genome-wide association scan in women with systemic lupus erythematosus identifies susceptibility variants in ITGAM, PXK, KIAA1542 and other loci. Nat Genet 2008;40:204-10.  Back to cited text no. 1      
2.Siminovitch KA. PTPN22 and autoimmune disease. Nat Genet 2004;36:1248-9.  Back to cited text no. 2      
3.Bottini N, Musumeci L, Alonso A, Rahmouni S, Nika K, Rostamkhani M, et al. A functional variant of lymphoid tyrosine phosphatase is associated with type I diabetes. Nat Genet 2004;36:337-8.  Back to cited text no. 3      
4.Smyth D, Cooper JD, Collins JE, Heward JM, Franklyn JA, Howson JM, et al. Replication of an association between the lymphoid tyrosine phosphatase locus (LYP/PTPN22) with type 1 diabetes, and evidence for its role as a general autoimmunity locus. Diabetes 2004;53:3020-3.  Back to cited text no. 4      
5.Onengut-Gumuscu S, Ewens KG, Spielman RS, Concannon P. A functional polymorphism (1858C/T) in the PTPN22 gene is linked and associated with type I diabetes in multiplex families. Genes Immun 2004;5:678-80.  Back to cited text no. 5      
6.Ladner MB, Bottini N, Valdes AM, Noble JA. Association of the single nucleotide polymorphism C1858T of the PTPN22 gene with type 1 diabetes. Hum Immunol 2005;66:60-4.  Back to cited text no. 6      
7.Begovich AB, Carlton VE, Honigberg LA, Schrodi SJ, Chokkalingam AP, Alexander HC, et al. A missense single-nucleotide polymorphism in a gene encoding a protein tyrosine phosphatase (PTPN22) is associated with rheumatoid arthritis. Am J Hum Genet 2004;75:330-7.  Back to cited text no. 7      
8.Orozco G, Eerligh P, Sanchez E, Zhernakova S, Roep BO, Gonzalez-Gay MA, et al. Analysis of a functional BTNL2 polymorphism in type 1 diabetes, rheumatoid arthritis, and systemic lupus erythematosus. Hum Immunol 2005;66:1235-41.  Back to cited text no. 8      
9.Criswell LA, Pfeiffer KA, Lum RF, Gonzales B, Novitzke J,Kern M, et al. Analysis of families in the multiple autoimmune disease genetics consortium (MADGC) collection: The PTPN22 620W allele associates with multiple autoimmune phenotypes. Am J Hum Genet 2005;76:561-71.  Back to cited text no. 9      
10.Viken MK, Amundsen SS, Kvien TK, Boberg KM, Gilboe IM,Lilleby V, et al. Association analysis of the 1858C>T polymorphism in the PTPN22 gene in juvenile idiopathic arthritis and other autoimmune diseases. Genes Immun 2005;6:271-3.  Back to cited text no. 10      
11.Hinks A, Barton A, John S, Bruce I, Hawkins C, Griffiths CE, 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 Rheum 2005;52:1694-9.  Back to cited text no. 11      
12.Kyogoku C, Langefeld CD, Ortmann WA, Lee A, Selby S, Carlton VE, et al. Genetic association of the R620W polymorphism of protein tyrosine phosphatase PTPN22 with human SLE. Am J Hum Genet 2004;75:504-7.  Back to cited text no. 12      
13.Velaga MR, Wilson V, Jennings CE, Owen CJ, Herington S, Donaldson PT, et al. The codon 620 tryptophan allele of the lymphoid tyrosine phosphatase (LYP) gene is a major determinant of Graves' disease. J Clin Endocrinol Metab 2004;89:5862-5.  Back to cited text no. 13      
14.Vandiedonck C, Capdevielle C, Giraud M, Krumeich S, Jais JP, Eymard B, et al. Association of the PTPN22*R620W polymorphism with autoimmune myasthenia gravis. Ann Neurol 2006;59:404-7.  Back to cited text no. 14      
15.Canton I, Akhtar S, Gavalas NG, Gawkrodger DJ, Blomhoff A, Watson PF, et al. A single-nucleotide polymorphism in the gene encoding lymphoid protein tyrosine phosphatase (PTPN22) confers susceptibility to generalised vitiligo. Genes Immun 2005;6:584-7.  Back to cited text no. 15      
16.Jagiello P, Aries P, Arning L, Wagenleiter SE, Csernok E,Hellmich B, et al. The PTPN22 620W allele is a risk factor for Wegener's granulomatosis. Arthritis Rheum 2005;52:4039-43.  Back to cited text no. 16      
17.Begovich AB, Caillier SJ, Alexander HC, Penko JM, Hauser SL, Barcellos LF, et al. The R620W polymorphism of the protein tyrosine phosphatase PTPN22 is not associated with multiple sclerosis. Am J Hum Genet 2005;76:184-7.  Back to cited text no. 17      
18.van Oene M, Wintle RF, Liu X, Yazdanpanah M, Gu X, Newman B, et al. Association of the lymphoid tyrosine phosphatase R620W variant with rheumatoid arthritis, but not Crohn's disease, in Canadian populations. Arthritis Rheum 2005;52:1993-8.  Back to cited text no. 18      
19.Wagenleiter SE, Klein W, Griga T, Schmiegel W, Epplen JT, Jagiello P. A case control study of tyrosine phosphatase (PTPN22) confirms the lack of association with Crohn's disease. Int J Immunogenet 2005;32:323-4.  Back to cited text no. 19      
20.Martνn MC, Oliver J, Urcelay E, Orozco G, Gσmez-Garcia M, Lσpez-Nevot MA, et al. The functional genetic variation in the PTPN22 gene has a negligible effect on the susceptibility to develop inflammatory bowel disease. Tissue Antigens 2005;66:314-7.  Back to cited text no. 20      
21.Prescott NJ, Fisher SA, Onnie C, Pattni R, Steer S, Sanderson J, et al. A general autoimmunity gene (PTPN22) is not associated with inflammatory bowel disease in a British population. Tissue Antigens 2005;66:318-20.  Back to cited text no. 21      
22.Rueda B, Nϊρez C, Orozco G, Lσpez-Nevot MA, de la Concha EG, Martin J, et al. C1858T functional variant of PTPN22 gene is not associated with celiac disease genetic predisposition. Hum Immunol 2005;66:848-52.  Back to cited text no. 22      
23.Milkiewicz P, Pache I, Buwaneswaran H, Liu X, Coltescu C, Heathcote EJ, et al. The PTPN22 1858T variant is not associated with primary biliary cirrhosis. Tissue Antigens 2006;67:434-7.  Back to cited text no. 23      
24.Carlton VE, Hu X, Chokkalingam AP, Schrodi SJ, Brandon R, Alexander HC, et al. PTPN22 genetic variation: Evidence for multiple variants associated with rheumatoid arthritis. Am J Hum Genet 2005;77:567-81.  Back to cited text no. 24      
25.Wesoly J, Hu X, Thabet MM, Chang M, Uh H, Allaart CF, et al. The 620W allele is the PTPN22 genetic variant conferring susceptibility to RA in a Dutch population. Rheumatology (Oxford) 2007;46:617- 21.  Back to cited text no. 25      
26.Ikari K, Momohara S, Inoue E, Tomatsu T, Hara M, Yamanaka H, et al. Haplotype analysis revealed no association between the PTPN22 gene and RA in a Japanese population. Rheumatology (Oxford) 2006;45:1345-8.  Back to cited text no. 26      
27.Hinks A, Eyre S, Barton A, Thomson W, Worthington J. Investigation of genetic variation across the protein tyrosine phosphatase gene in patients with rheumatoid arthritis in the UK. Ann Rheum Dis 2007;66:683-6.  Back to cited text no. 27      
28.Kawasaki E, Awata T, Ikegami H, Kobayashi T, Maruyama T, Nakanishi K, et al. Systematic search for single nucleotide polymorphisms in a lymphoid tyrosine phosphatase gene (PTPN22): Association between a promoter polymorphism and type 1 diabetes in Asian populations. Am J Med Genet 2006;140:586-93.  Back to cited text no. 28      
29.Hόffmeier U, Steffens M, Burkhardt H, Lascorz J, Schόrmeier-Horst F, Stδnder M, et al. Evidence for susceptibility determinant(s) to psoriasis vulgaris in or near PTPN22 in German patients. J Med Genet 2006;43:517-22.  Back to cited text no. 29      
30.LaBerg GS, Bannett DC, Fain PR, Spritz RA. PTPN22 is genetically associated with risk of generalized vitiligo, but CTLA4 is not. J Invest Dermatol 2008;128:1757-62.  Back to cited text no. 30      
31.Lee YH, Rho YH, Choi SJ, Ji JD, Song GG, Nath SK, et al. The PTPN22 C1858T functional polymorphism and autoimmune diseases-a meta-analysis. Rheumatology (Oxford) 2007;46:49-56.  Back to cited text no. 31      
32.Vang T, Miletic AV, Arimura Y, Tautz L, Rickert RC, Mustelin T. Protein tyrosine phosphatases in autoimmunity. Annu Rev Immunol 2008;26:29-55.  Back to cited text no. 32      
33.Wang J, Pan HF, Su H, Li XP, Xu JH, Ye DQ. Tuberculosis in systemic lupus erythematosus in Chinese patients. Trop Doct 2009;39:165-7.  Back to cited text no. 33      
34.Hodkinson B, Musenge E, Tiky M. Osteoarticular tuberculosis in patients with systemic lupus erythematosus. QJM 2009;102:321-8.  Back to cited text no. 34      
35.Lamsyah H, Rueda B, Baassi L, Elaouad R, Bottini N, Sadki K, et al. Association of PTPN22 gene functional variants with development of pulmonary tuberculosis in Moroccan population. Tissue Antigens 2009;74:228-32.  Back to cited text no. 35      
36.Ghosh K, Patwardhan M, Pradhan V. Mycobacterium tuberculosis infection precipitates SLE in patients from endemic areas. Rheumatol Int 2009;29:1047-50.  Back to cited text no. 36      
37.Harries AD, Hargreaves NJ, Kemp J, Jindani A, Enarson DA, Maher D, et al. Death from tuberculosis in sub-Saharan African countries with a high prevalence of HIV-1. Lancet 2001;357:1519-23.  Back to cited text no. 37      
38.Holmes CB, Losina E, Walensky RP, Yazdanpanah Y, Freedberg KA. Review of human immunodeficiency virus type 1-related opportunistic infections. Clin Infect Dis 2003;36:652-62.  Back to cited text no. 38      
39.Mok MY, Lo Y, Chan TM, Wong WS, Lau CS. Tuberculosis in systemic lupus erythematosus in an endemic area and the role of isoniazid prophylaxis during corticosteroid therapy. J Rheumatol 2005;32:609-15.  Back to cited text no. 39      
40.Rovin BH, Birmingham DJ, Nagaraja HN, Yu CY, Hebert LA. Biomarker discovery in human SLE nephritis. Bull NYU Hosp Jt Dis 2007;65:187-93.  Back to cited text no. 40      
41.Huang Z, Shi Y, Cai B, Wang L, Wu Y, Ying B, et al. MALDI-TOF MS combined with magnetic beads for detecting serum protein biomarkers and establishment of boosting decision tree model for diagnosis of systemic lupus erythematosus. Rheumatology (Oxford) 2009;48:626-31.  Back to cited text no. 41      
42.Vang T, Congia M, Macis MD, Musumeci L, Orru V, Zavattari P, et al. Autoimmune-associated lymphoid tyrosine phosphatase is a gain-of-function variant. Nat Genet 2005;37:1317-9.  Back to cited text no. 42      
43.Adriaansen J, Vervoordeldonk MJ, Tak PP. Gene therapy as a therapeutic approach for the treatment of rheumatoid arthritis: Innovative vectors and therapeutic genes. Rheumatology (Oxford) 2006;45:656-68.  Back to cited text no. 43      


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18 Lack of association of the rs2476601 PTPN22 gene polymorphism with transplanted kidney function
Domański, L. and Bobrek-Lesiakowska, K. and KŁoda, K. and Pawlik, A. and Safranow, K. and Kurzawski, M. and Wiśniewska, M. and Sulikowski, T. and Ciechanowski, K.
Annals of Transplantation. 2011; 16(4): 63-68
19 No association of PTPN22 R620 W gene polymorphism with rheumatic heart disease and systemic lupus erythematosus
Aksoy, R. and Duman, T. and Keskin, O. and Düzgün, N.
Molecular Biology Reports. 2011; 38(8): 5393-5396
20 Association of PTPN22 1858T/T genotype with type 1 diabetes, Graves disease but not with rheumatoid arthritis in Russian population
Zhebrun, D. and Kudryashova, Y. and Babenko, A. and Maslyansky, A. and Kunitskaya, N. and Popcova, D. and Klushina, A. and Grineva, E. and Kostareva, A. and Shlyakhto, E.
Aging. 2011; 3(4): 368-373
21 A variant of PTPN22 gene conferring risk to autoimmune diseases may protect against tuberculosis
Lopez-Escamez, J.A.
Journal of Postgraduate Medicine. 2010; 56(3): 242-243


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Online since 12th February '04
2004 - Journal of Postgraduate Medicine
Official Publication of the Staff Society of the Seth GS Medical College and KEM Hospital, Mumbai, India
Published by Wolters Kluwer - Medknow