Genetic association of the R620W polymorphism of protein tyrosine phosphatase PTPN22 with human SLE

Chieko Kyogoku; Carl D. Langefeld; Ward A. Ortmann; Annette Lee; Scott Selby; Victoria E.H. Carlton; Monica Chang; Paula Ramos; Emily C. Baechler; Franak M. Batliwalla; Jill Novitzke; Adrienne H. Williams; Clarence Gillett; Peter Rodine; Robert R. Graham; Kristin G. Ardlie; Patrick M. Gaffney; Kathy L. Moser; Michelle Petri; Ann B. Begovich; Peter K. Gregersen; Timothy W. Behrens

doi:10.1086/423790

Genetic association of the R620W polymorphism of protein tyrosine phosphatase PTPN22 with human SLE

Chieko Kyogoku, Carl D. Langefeld, Ward A. Ortmann, Annette Lee, Scott Selby, Victoria E.H. Carlton, Monica Chang, Paula Ramos, Emily C. Baechler, Franak M. Batliwalla, Jill Novitzke, Adrienne H. Williams, Clarence Gillett, Peter Rodine, Robert R. Graham, Kristin G. Ardlie, Patrick M. Gaffney, Kathy L. Moser, Michelle Petri, Ann B. BegovichPeter K. Gregersen, Timothy W. Behrens

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Abstract

We genotyped 525 independent North American white individuals with systemic lupus erythematosus (SLE) for the PTPN22 R620W polymorphism and compared the results with data generated from 1,961 white control individuals. The R620W SNP was associated with SLE (genotypic P = .00009), with estimated minor (T) allele frequencies of 12.67% in SLE cases and 8.64% in controls. A single copy of the T allele (W620) increases risk of SLE (odds ratio [OR] = 1.37; 95% confidence interval [CI] 1.07-1.75), and two copies of the allele more than double this risk (OR = 4.37; 95% CI 1.98-9.65). Together with recent evidence showing association of this SNP with type 1 diabetes and rheumatoid arthritis, these data provide compelling evidence that PTPN22 plays a fundamental role in regulating the immune system and the development of autoimmunity.

Original language	English (US)
Pages (from-to)	504-507
Number of pages	4
Journal	American Journal of Human Genetics
Volume	75
Issue number	3
DOIs	https://doi.org/10.1086/423790
State	Published - Sep 2004

Bibliographical note

Funding Information:
We thank all the individuals with SLE, family members, and referring physicians for their ongoing participation in this work. We also thank Catherine Jensen, Neil Wenberg, and Thearith Koueth for technical assistance. This study was supported by grants (R01 AR32274, R01 AR43727) and contracts from the National Institute of Arthritis and Musculoskeletal and Skin Diseases and the National Institute of Allergy and Infectious Diseases, Johns Hopkins General Clinical Research Center grant MO1-RR00052, and grants from the Minnesota Lupus Foundation, the Mary Kirkland Center for Lupus Research, and the Alliance for Lupus Research.

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Kyogoku, C., Langefeld, C. D., Ortmann, W. A., Lee, A., Selby, S., Carlton, V. E. H., Chang, M., Ramos, P., Baechler, E. C., Batliwalla, F. M., Novitzke, J., Williams, A. H., Gillett, C., Rodine, P., Graham, R. R., Ardlie, K. G., Gaffney, P. M., Moser, K. L., Petri, M., ... Behrens, T. W. (2004). Genetic association of the R620W polymorphism of protein tyrosine phosphatase PTPN22 with human SLE. American Journal of Human Genetics, 75(3), 504-507. https://doi.org/10.1086/423790

Kyogoku, C, Langefeld, CD, Ortmann, WA, Lee, A, Selby, S, Carlton, VEH, Chang, M, Ramos, P, Baechler, EC, Batliwalla, FM, Novitzke, J, Williams, AH, Gillett, C, Rodine, P, Graham, RR, Ardlie, KG, Gaffney, PM, Moser, KL, Petri, M, Begovich, AB, Gregersen, PK & Behrens, TW 2004, 'Genetic association of the R620W polymorphism of protein tyrosine phosphatase PTPN22 with human SLE', American Journal of Human Genetics, vol. 75, no. 3, pp. 504-507. https://doi.org/10.1086/423790

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title = "Genetic association of the R620W polymorphism of protein tyrosine phosphatase PTPN22 with human SLE",

abstract = "We genotyped 525 independent North American white individuals with systemic lupus erythematosus (SLE) for the PTPN22 R620W polymorphism and compared the results with data generated from 1,961 white control individuals. The R620W SNP was associated with SLE (genotypic P = .00009), with estimated minor (T) allele frequencies of 12.67% in SLE cases and 8.64% in controls. A single copy of the T allele (W620) increases risk of SLE (odds ratio [OR] = 1.37; 95% confidence interval [CI] 1.07-1.75), and two copies of the allele more than double this risk (OR = 4.37; 95% CI 1.98-9.65). Together with recent evidence showing association of this SNP with type 1 diabetes and rheumatoid arthritis, these data provide compelling evidence that PTPN22 plays a fundamental role in regulating the immune system and the development of autoimmunity.",

author = "Chieko Kyogoku and Langefeld, {Carl D.} and Ortmann, {Ward A.} and Annette Lee and Scott Selby and Carlton, {Victoria E.H.} and Monica Chang and Paula Ramos and Baechler, {Emily C.} and Batliwalla, {Franak M.} and Jill Novitzke and Williams, {Adrienne H.} and Clarence Gillett and Peter Rodine and Graham, {Robert R.} and Ardlie, {Kristin G.} and Gaffney, {Patrick M.} and Moser, {Kathy L.} and Michelle Petri and Begovich, {Ann B.} and Gregersen, {Peter K.} and Behrens, {Timothy W.}",

note = "Funding Information: We thank all the individuals with SLE, family members, and referring physicians for their ongoing participation in this work. We also thank Catherine Jensen, Neil Wenberg, and Thearith Koueth for technical assistance. This study was supported by grants (R01 AR32274, R01 AR43727) and contracts from the National Institute of Arthritis and Musculoskeletal and Skin Diseases and the National Institute of Allergy and Infectious Diseases, Johns Hopkins General Clinical Research Center grant MO1-RR00052, and grants from the Minnesota Lupus Foundation, the Mary Kirkland Center for Lupus Research, and the Alliance for Lupus Research. ",

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doi = "10.1086/423790",

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T1 - Genetic association of the R620W polymorphism of protein tyrosine phosphatase PTPN22 with human SLE

AU - Kyogoku, Chieko

AU - Langefeld, Carl D.

AU - Ortmann, Ward A.

AU - Lee, Annette

AU - Selby, Scott

AU - Carlton, Victoria E.H.

AU - Chang, Monica

AU - Ramos, Paula

AU - Baechler, Emily C.

AU - Batliwalla, Franak M.

AU - Novitzke, Jill

AU - Williams, Adrienne H.

AU - Gillett, Clarence

AU - Rodine, Peter

AU - Graham, Robert R.

AU - Ardlie, Kristin G.

AU - Gaffney, Patrick M.

AU - Moser, Kathy L.

AU - Petri, Michelle

AU - Begovich, Ann B.

AU - Gregersen, Peter K.

AU - Behrens, Timothy W.

N1 - Funding Information: We thank all the individuals with SLE, family members, and referring physicians for their ongoing participation in this work. We also thank Catherine Jensen, Neil Wenberg, and Thearith Koueth for technical assistance. This study was supported by grants (R01 AR32274, R01 AR43727) and contracts from the National Institute of Arthritis and Musculoskeletal and Skin Diseases and the National Institute of Allergy and Infectious Diseases, Johns Hopkins General Clinical Research Center grant MO1-RR00052, and grants from the Minnesota Lupus Foundation, the Mary Kirkland Center for Lupus Research, and the Alliance for Lupus Research.

PY - 2004/9

Y1 - 2004/9

N2 - We genotyped 525 independent North American white individuals with systemic lupus erythematosus (SLE) for the PTPN22 R620W polymorphism and compared the results with data generated from 1,961 white control individuals. The R620W SNP was associated with SLE (genotypic P = .00009), with estimated minor (T) allele frequencies of 12.67% in SLE cases and 8.64% in controls. A single copy of the T allele (W620) increases risk of SLE (odds ratio [OR] = 1.37; 95% confidence interval [CI] 1.07-1.75), and two copies of the allele more than double this risk (OR = 4.37; 95% CI 1.98-9.65). Together with recent evidence showing association of this SNP with type 1 diabetes and rheumatoid arthritis, these data provide compelling evidence that PTPN22 plays a fundamental role in regulating the immune system and the development of autoimmunity.

AB - We genotyped 525 independent North American white individuals with systemic lupus erythematosus (SLE) for the PTPN22 R620W polymorphism and compared the results with data generated from 1,961 white control individuals. The R620W SNP was associated with SLE (genotypic P = .00009), with estimated minor (T) allele frequencies of 12.67% in SLE cases and 8.64% in controls. A single copy of the T allele (W620) increases risk of SLE (odds ratio [OR] = 1.37; 95% confidence interval [CI] 1.07-1.75), and two copies of the allele more than double this risk (OR = 4.37; 95% CI 1.98-9.65). Together with recent evidence showing association of this SNP with type 1 diabetes and rheumatoid arthritis, these data provide compelling evidence that PTPN22 plays a fundamental role in regulating the immune system and the development of autoimmunity.

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Genetic association of the R620W polymorphism of protein tyrosine phosphatase PTPN22 with human SLE

Abstract

Bibliographical note

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