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Association of a functional single-nucleotide polymorphism of PTPN22, encoding lymphoid protein phosphatase, with rheumatoid arthritis and systemic lupus erythematosus.
Arthritis Rheum. 2005 Jan; 52(1):219-24.AR

Abstract

OBJECTIVE

To assess the possible association between the PTPN22 gene 1858C-->T polymorphism and the predisposition and clinical expression of 2 systemic autoimmune diseases, rheumatoid arthritis (RA) and systemic lupus erythematosus (SLE).

METHODS

Our study population consisted of 826 RA patients, 338 SLE patients, and 1,036 healthy subjects. All subjects were of Spanish Caucasian origin. Genotyping of the PTPN22 gene 1858C-->T polymorphism was performed by real-time polymerase chain reaction technology, using the TaqMan 5'-allele discrimination assay.

RESULTS

The overall distribution of genotypes in the RA patients was significantly different from that in the controls (P = 0.005, by chi-square test with 2 x 3 contingency tables). We observed a statistically significant difference in the distribution of the PTPN22 1858T allele between healthy subjects (7.4%), and RA patients (10.4%) (P = 0.001, odds ratio [OR] 1.45 [95% confidence interval (95% CI) 1.15-1.83]). In addition, PTPN22 1858 C/T and T/T genotypes were present at a significantly higher frequency in SLE patients than in controls (P = 0.02, OR 1.55 [95% CI 1.05-2.29]). Differences were also observed when allele frequencies were compared, with the PTPN22 1858T allele being present at a higher frequency among SLE patients (P = 0.03, OR 1.45 [95% CI 1.01-2.09]).

CONCLUSION

These results suggest that the PTPN22 1858T allele may confer differential susceptibility to RA and SLE in the Spanish population.

Authors+Show Affiliations

Instituto de Parasitología y Biomedicina, CSIC, Parque Tecnológico de Ciencias de la Salud, Avenida del Conocimiento s/n 18100-Armilla, Granada, Spain.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

15641066

Citation

Orozco, Gisela, et al. "Association of a Functional Single-nucleotide Polymorphism of PTPN22, Encoding Lymphoid Protein Phosphatase, With Rheumatoid Arthritis and Systemic Lupus Erythematosus." Arthritis and Rheumatism, vol. 52, no. 1, 2005, pp. 219-24.
Orozco G, Sánchez E, González-Gay MA, et al. Association of a functional single-nucleotide polymorphism of PTPN22, encoding lymphoid protein phosphatase, with rheumatoid arthritis and systemic lupus erythematosus. Arthritis Rheum. 2005;52(1):219-24.
Orozco, G., Sánchez, E., González-Gay, M. A., López-Nevot, M. A., Torres, B., Cáliz, R., Ortego-Centeno, N., Jiménez-Alonso, J., Pascual-Salcedo, D., Balsa, A., de Pablo, R., Nuñez-Roldan, A., González-Escribano, M. F., & Martín, J. (2005). Association of a functional single-nucleotide polymorphism of PTPN22, encoding lymphoid protein phosphatase, with rheumatoid arthritis and systemic lupus erythematosus. Arthritis and Rheumatism, 52(1), 219-24.
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 Rheum. 2005;52(1):219-24. PubMed PMID: 15641066.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Association of a functional single-nucleotide polymorphism of PTPN22, encoding lymphoid protein phosphatase, with rheumatoid arthritis and systemic lupus erythematosus. AU - Orozco,Gisela, AU - Sánchez,Elena, AU - González-Gay,Miguel A, AU - López-Nevot,Miguel A, AU - Torres,Belén, AU - Cáliz,Rafael, AU - Ortego-Centeno,Norberto, AU - Jiménez-Alonso,Juan, AU - Pascual-Salcedo,Dora, AU - Balsa,Alejandro, AU - de Pablo,Rosario, AU - Nuñez-Roldan,Antonio, AU - González-Escribano,Maria Francisca, AU - Martín,Javier, PY - 2005/1/11/pubmed PY - 2005/2/16/medline PY - 2005/1/11/entrez SP - 219 EP - 24 JF - Arthritis and rheumatism JO - Arthritis Rheum. VL - 52 IS - 1 N2 - OBJECTIVE: To assess the possible association between the PTPN22 gene 1858C-->T polymorphism and the predisposition and clinical expression of 2 systemic autoimmune diseases, rheumatoid arthritis (RA) and systemic lupus erythematosus (SLE). METHODS: Our study population consisted of 826 RA patients, 338 SLE patients, and 1,036 healthy subjects. All subjects were of Spanish Caucasian origin. Genotyping of the PTPN22 gene 1858C-->T polymorphism was performed by real-time polymerase chain reaction technology, using the TaqMan 5'-allele discrimination assay. RESULTS: The overall distribution of genotypes in the RA patients was significantly different from that in the controls (P = 0.005, by chi-square test with 2 x 3 contingency tables). We observed a statistically significant difference in the distribution of the PTPN22 1858T allele between healthy subjects (7.4%), and RA patients (10.4%) (P = 0.001, odds ratio [OR] 1.45 [95% confidence interval (95% CI) 1.15-1.83]). In addition, PTPN22 1858 C/T and T/T genotypes were present at a significantly higher frequency in SLE patients than in controls (P = 0.02, OR 1.55 [95% CI 1.05-2.29]). Differences were also observed when allele frequencies were compared, with the PTPN22 1858T allele being present at a higher frequency among SLE patients (P = 0.03, OR 1.45 [95% CI 1.01-2.09]). CONCLUSION: These results suggest that the PTPN22 1858T allele may confer differential susceptibility to RA and SLE in the Spanish population. SN - 0004-3591 UR - https://www.unboundmedicine.com/medline/citation/15641066/Association_of_a_functional_single_nucleotide_polymorphism_of_PTPN22_encoding_lymphoid_protein_phosphatase_with_rheumatoid_arthritis_and_systemic_lupus_erythematosus_ L2 - https://doi.org/10.1002/art.20771 DB - PRIME DP - Unbound Medicine ER -