Association between the functional PTPN22 G788A (R263Q) polymorphism and susceptibility to autoimmune diseases: A meta-analysis

Sang-Cheol Bae; Young Ho Lee

doi:10.14715/cmb/2018.64.5.7

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Vol. 64 No. 5: Issue 5

Issue Published : May 1, 2018

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Association between the functional PTPN22 G788A (R263Q) polymorphism and susceptibility to autoimmune diseases: A meta-analysis

https://doi.org/10.14715/cmb/2018.64.5.7

Sang-Cheol Bae

Department of Rheumatology, Hanyang University Hospital for Rheumatic Diseases, Korea University College of Medicine, Seoul, Korea

Young Ho Lee

Division of Rheumatology, Department of Internal Medicine, Korea University College of Medicine, Seoul, Korea

Corresponding Author(s) : Young Ho Lee

lyhcgh@korea.ac.kr

Cellular and Molecular Biology, Vol. 64 No. 5: Issue 5
Article Published : April 30, 2018

Abstract

This study explored whether the functional protein tyrosine phosphatase nonreceptor 22 (PTPN22) G788A (R263Q) polymorphism is associated with susceptibility to autoimmune diseases. A meta-analysis was conducted using 23 comparative studies with a total of 16,719 patients and 17,783 controls. The meta-analysis showed an association between the A allele of the PTPN22 G788A polymorphism and decreased risk of autoimmune diseases in all subjects (p < 0.001). Analysis after stratification by ethnicity indicated that the PTPN22 788A allele was significantly associated with autoimmune diseases in Europeans (p < 0.001) but not in Latin Americans. Meta-analysis by autoimmune disease type showed a significant negative association between the PTPN22 788A allele and systemic lupus erythematous (SLE) (p = 001), rheumatoid arthritis (RA) (p = 0.008), ulcerative colitis (UC) (p = 0.016), but not Crohn's disease (CD). A single study for each showed no association between the PTPN22 788A allele and systemic sclerosis, giant cell arteritis, Henoch-schonlein purpura, uveitis, and Grave's disease. This meta-analysis demonstrates that the PTPN22 G788A polymorphism confers protection against SLE, RA, and UC, supporting evidence of association of the PTPN22 gene with a subgroup of autoimmune diseases.

Keywords

PTPN22 Autoimmune diseases Meta-analysis.

Bae, S.-C., & Lee, Y. H. (2018). Association between the functional PTPN22 G788A (R263Q) polymorphism and susceptibility to autoimmune diseases: A meta-analysis. Cellular and Molecular Biology, 64(5), 46–51. https://doi.org/10.14715/cmb/2018.64.5.7

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References

Marrack P, Kappler J, Kotzin BL. Autoimmune disease: why and where it occurs. Nat Med. 2001;7(8):899-905.
Becker KG. The common variants/multiple disease hypothesis of common complex genetic disorders. Med Hypotheses. 2004;62(2):309-17.
Lee YH, Nath SK. Systemic lupus erythematosus susceptibility loci defined by genome scan meta-analysis. Hum Genet. 2005;118(3-4):434-43.
Choi SJ, Rho YH, Ji JD, Song GG, Lee YH. Genome scan meta-analysis of rheumatoid arthritis. Rheumatology (Oxford). 2006;45(2):166-70.
Cohen S, Dadi H, Shaoul E, Sharfe N, Roifman CM. Cloning and characterization of a lymphoid-specific, inducible human protein tyrosine phosphatase, Lyp. Blood. 1999;93(6):2013-24.
Cloutier JF, Veillette A. Cooperative inhibition of T-cell antigen receptor signaling by a complex between a kinase and a phosphatase. J Exp Med. 1999;189(1):111-21.
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(4):337-8.
Orrú V, Tsai SJ, Rueda B, Fiorillo E, Stanford SM, Dasgupta J, et al. A loss-of-function variant of PTPN22 is associated with reduced risk of systemic lupus erythematosus. Human molecular genetics. 2008;18(3):569-79.
Lopez-Cano DJ, Cadena-Sandoval D, Beltran-Ramirez O, Barbosa-Cobos RE, Sanchez-Munoz F, Amezcua-Guerra LM, et al. The PTPN22 R263Q polymorphism confers protection against systemic lupus erythematosus and rheumatoid arthritis, while PTPN22 R620W confers susceptibility to Graves' disease in a Mexican population. Inflamm Res. 2017;66(9):775-81.
Serrano A, Marquez A, Mackie SL, Carmona FD, Solans R, Miranda-Filloy JA, et al. Identification of the PTPN22 functional variant R620W as susceptibility genetic factor for giant cell arteritis. Ann Rheum Dis. 2013;72(11):1882-6.
Cenit MC, Marquez A, Cordero-Coma M, Fonollosa A, Llorenc V, Artaraz J, et al. Lack of association between the protein tyrosine phosphatase non-receptor type 22 R263Q and R620W functional genetic variants and endogenous non-anterior uveitis. Mol Vis. 2013;19:638-43.
Diaz-Gallo LM, Espino-Paisan L, Fransen K, Gomez-Garcia M, van Sommeren S, Cardena C, et al. Differential association of two PTPN22 coding variants with Crohn's disease and ulcerative colitis. Inflamm Bowel Dis. 2011;17(11):2287-94.
Rodriguez-Rodriguez L, Taib WR, Topless R, Steer S, Gonzalez-Escribano MF, Balsa A, et al. The PTPN22 R263Q polymorphism is a risk factor for rheumatoid arthritis in Caucasian case-control samples. Arthritis Rheum. 2011;63(2):365-72.
Orru V, Tsai SJ, Rueda B, Fiorillo E, Stanford SM, Dasgupta J, et al. A loss-of-function variant of PTPN22 is associated with reduced risk of systemic lupus erythematosus. Hum Mol Genet. 2009;18(3):569-79.
Diaz-Gallo LM, Gourh P, Broen J, Simeon C, Fonollosa V, Ortego-Centeno N, et al. Analysis of the influence of PTPN22 gene polymorphisms in systemic sclerosis. Ann Rheum Dis. 2011;70(3):454-62.
Lopez-Mejias R, Genre F, Remuzgo-Martinez S, Perez BS, Castaneda S, Llorca J, et al. Role of PTPN22 and CSK gene polymorphisms as predictors of susceptibility and clinical heterogeneity in patients with Henoch-Schonlein purpura (IgA vasculitis). Arthritis Res Ther. 2015;17:286.
Higgins JP, Thompson SG. Quantifying heterogeneity in a meta-analysis. Stat Med. 2002;21(11):1539-58.
DerSimonian R, Laird N. Meta-analysis in clinical trials. Control Clin Trials. 1986;7(3):177-88.
Nik Tavakoli N, Hambly BD, Sullivan DR, Bao S. Forkhead box protein 3: essential immune regulatory role. Int J Biochem Cell Biol. 2008;40(11):2369-73.
Li B, Samanta A, Song X, Furuuchi K, Iacono KT, Kennedy S, et al. FOXP3 ensembles in T-cell regulation. Immunol Rev. 2006;212:99-113.
Nerup J, Pociot F, European Consortium for IS. A genomewide scan for type 1-diabetes susceptibility in Scandinavian families: identification of new loci with evidence of interactions. Am J Hum Genet. 2001;69(6):1301-13.
Lee Y, Rho Y, Choi S, Ji J, Song G, Nath S, et al. The PTPN22 C1858T functional polymorphism and autoimmune diseases”a meta-analysis. Rheumatology. 2006;46(1):49-56.

References

Marrack P, Kappler J, Kotzin BL. Autoimmune disease: why and where it occurs. Nat Med. 2001;7(8):899-905.

Becker KG. The common variants/multiple disease hypothesis of common complex genetic disorders. Med Hypotheses. 2004;62(2):309-17.

Lee YH, Nath SK. Systemic lupus erythematosus susceptibility loci defined by genome scan meta-analysis. Hum Genet. 2005;118(3-4):434-43.

Choi SJ, Rho YH, Ji JD, Song GG, Lee YH. Genome scan meta-analysis of rheumatoid arthritis. Rheumatology (Oxford). 2006;45(2):166-70.

Cohen S, Dadi H, Shaoul E, Sharfe N, Roifman CM. Cloning and characterization of a lymphoid-specific, inducible human protein tyrosine phosphatase, Lyp. Blood. 1999;93(6):2013-24.

Cloutier JF, Veillette A. Cooperative inhibition of T-cell antigen receptor signaling by a complex between a kinase and a phosphatase. J Exp Med. 1999;189(1):111-21.

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(4):337-8.

Orrú V, Tsai SJ, Rueda B, Fiorillo E, Stanford SM, Dasgupta J, et al. A loss-of-function variant of PTPN22 is associated with reduced risk of systemic lupus erythematosus. Human molecular genetics. 2008;18(3):569-79.

Lopez-Cano DJ, Cadena-Sandoval D, Beltran-Ramirez O, Barbosa-Cobos RE, Sanchez-Munoz F, Amezcua-Guerra LM, et al. The PTPN22 R263Q polymorphism confers protection against systemic lupus erythematosus and rheumatoid arthritis, while PTPN22 R620W confers susceptibility to Graves' disease in a Mexican population. Inflamm Res. 2017;66(9):775-81.

Serrano A, Marquez A, Mackie SL, Carmona FD, Solans R, Miranda-Filloy JA, et al. Identification of the PTPN22 functional variant R620W as susceptibility genetic factor for giant cell arteritis. Ann Rheum Dis. 2013;72(11):1882-6.

Cenit MC, Marquez A, Cordero-Coma M, Fonollosa A, Llorenc V, Artaraz J, et al. Lack of association between the protein tyrosine phosphatase non-receptor type 22 R263Q and R620W functional genetic variants and endogenous non-anterior uveitis. Mol Vis. 2013;19:638-43.

Diaz-Gallo LM, Espino-Paisan L, Fransen K, Gomez-Garcia M, van Sommeren S, Cardena C, et al. Differential association of two PTPN22 coding variants with Crohn's disease and ulcerative colitis. Inflamm Bowel Dis. 2011;17(11):2287-94.

Rodriguez-Rodriguez L, Taib WR, Topless R, Steer S, Gonzalez-Escribano MF, Balsa A, et al. The PTPN22 R263Q polymorphism is a risk factor for rheumatoid arthritis in Caucasian case-control samples. Arthritis Rheum. 2011;63(2):365-72.

Orru V, Tsai SJ, Rueda B, Fiorillo E, Stanford SM, Dasgupta J, et al. A loss-of-function variant of PTPN22 is associated with reduced risk of systemic lupus erythematosus. Hum Mol Genet. 2009;18(3):569-79.

Diaz-Gallo LM, Gourh P, Broen J, Simeon C, Fonollosa V, Ortego-Centeno N, et al. Analysis of the influence of PTPN22 gene polymorphisms in systemic sclerosis. Ann Rheum Dis. 2011;70(3):454-62.

Lopez-Mejias R, Genre F, Remuzgo-Martinez S, Perez BS, Castaneda S, Llorca J, et al. Role of PTPN22 and CSK gene polymorphisms as predictors of susceptibility and clinical heterogeneity in patients with Henoch-Schonlein purpura (IgA vasculitis). Arthritis Res Ther. 2015;17:286.

Higgins JP, Thompson SG. Quantifying heterogeneity in a meta-analysis. Stat Med. 2002;21(11):1539-58.

DerSimonian R, Laird N. Meta-analysis in clinical trials. Control Clin Trials. 1986;7(3):177-88.

Nik Tavakoli N, Hambly BD, Sullivan DR, Bao S. Forkhead box protein 3: essential immune regulatory role. Int J Biochem Cell Biol. 2008;40(11):2369-73.

Li B, Samanta A, Song X, Furuuchi K, Iacono KT, Kennedy S, et al. FOXP3 ensembles in T-cell regulation. Immunol Rev. 2006;212:99-113.

Nerup J, Pociot F, European Consortium for IS. A genomewide scan for type 1-diabetes susceptibility in Scandinavian families: identification of new loci with evidence of interactions. Am J Hum Genet. 2001;69(6):1301-13.

Lee Y, Rho Y, Choi S, Ji J, Song G, Nath S, et al. The PTPN22 C1858T functional polymorphism and autoimmune diseases”a meta-analysis. Rheumatology. 2006;46(1):49-56.

Author biographies is not available.