Tags

Type your tag names separated by a space and hit enter

PTPN22 C1858T polymorphism in Colombian patients with autoimmune diseases.
Genes Immun. 2005 Oct; 6(7):628-31.GI

Abstract

A functional single nucleotide polymorphism (SNP) C1858T in the protein tyrosine phosphatase nonreceptor 22 (PTPN22) gene encoding an intracellular phosphatase with negative regulatory effects on T-cell activation is associated with some autoimmune diseases in Caucasians. Taking into account firstly, that SNP frequencies may vary across populations and, secondly, that replication studies are important to confirm previous associations, we examined the influence of PTPN22 polymorphism in 621 Colombian patients with four autoimmune diseases. Accordingly, 298 patients with rheumatoid arthritis (RA), 143 with systemic lupus erythematosus (SLE), 70 with primary Sjogren's syndrome (pSS) and 110 with Type 1 diabetes (T1D) were studied. The control group consisted of 308 matched healthy individuals. Genotyping of PTPN22 was performed by the real-time polymerase chain reaction technology, using the Taq Man 5'-allele discrimination assay. The 1858 T allele was found to be a risk factor for pSS (odds ratio (OR)=2.42), SLE (OR=2.56), and T1D (OR=1.83). A lower but nonsignificant trend was observed for RA (OR=1.26). These results confirm the influence of PTPN22 in autoimmunity and indicate that autoimmune phenotypes could represent pleiotropic outcomes of nonspecific disease genes that underlie similar immunogenetic mechanisms.

Authors+Show Affiliations

Cellular Biology and Immunogenetics Unit (CBIU), Corporación para Investigaciones Biológicas (CIB) and Universidad de Antioquia, Medellin, Colombia, CSIC, Granada, Spain.No 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

16163373

Citation

Gomez, L M., et al. "PTPN22 C1858T Polymorphism in Colombian Patients With Autoimmune Diseases." Genes and Immunity, vol. 6, no. 7, 2005, pp. 628-31.
Gomez LM, Anaya JM, Gonzalez CI, et al. PTPN22 C1858T polymorphism in Colombian patients with autoimmune diseases. Genes Immun. 2005;6(7):628-31.
Gomez, L. M., Anaya, J. M., Gonzalez, C. I., Pineda-Tamayo, R., Otero, W., Arango, A., & Martín, J. (2005). PTPN22 C1858T polymorphism in Colombian patients with autoimmune diseases. Genes and Immunity, 6(7), 628-31.
Gomez LM, et al. PTPN22 C1858T Polymorphism in Colombian Patients With Autoimmune Diseases. Genes Immun. 2005;6(7):628-31. PubMed PMID: 16163373.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - PTPN22 C1858T polymorphism in Colombian patients with autoimmune diseases. AU - Gomez,L M, AU - Anaya,J-M, AU - Gonzalez,C I, AU - Pineda-Tamayo,R, AU - Otero,W, AU - Arango,A, AU - Martín,J, PY - 2005/9/16/pubmed PY - 2005/12/16/medline PY - 2005/9/16/entrez SP - 628 EP - 31 JF - Genes and immunity JO - Genes Immun VL - 6 IS - 7 N2 - A functional single nucleotide polymorphism (SNP) C1858T in the protein tyrosine phosphatase nonreceptor 22 (PTPN22) gene encoding an intracellular phosphatase with negative regulatory effects on T-cell activation is associated with some autoimmune diseases in Caucasians. Taking into account firstly, that SNP frequencies may vary across populations and, secondly, that replication studies are important to confirm previous associations, we examined the influence of PTPN22 polymorphism in 621 Colombian patients with four autoimmune diseases. Accordingly, 298 patients with rheumatoid arthritis (RA), 143 with systemic lupus erythematosus (SLE), 70 with primary Sjogren's syndrome (pSS) and 110 with Type 1 diabetes (T1D) were studied. The control group consisted of 308 matched healthy individuals. Genotyping of PTPN22 was performed by the real-time polymerase chain reaction technology, using the Taq Man 5'-allele discrimination assay. The 1858 T allele was found to be a risk factor for pSS (odds ratio (OR)=2.42), SLE (OR=2.56), and T1D (OR=1.83). A lower but nonsignificant trend was observed for RA (OR=1.26). These results confirm the influence of PTPN22 in autoimmunity and indicate that autoimmune phenotypes could represent pleiotropic outcomes of nonspecific disease genes that underlie similar immunogenetic mechanisms. SN - 1466-4879 UR - https://www.unboundmedicine.com/medline/citation/16163373/PTPN22_C1858T_polymorphism_in_Colombian_patients_with_autoimmune_diseases_ L2 - https://doi.org/10.1038/sj.gene.6364261 DB - PRIME DP - Unbound Medicine ER -