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Susceptibility to type 1 diabetes conferred by the PTPN22 C1858T polymorphism in the Spanish population

BACKGROUND: The protein tyrosine phosphatase N22 gene (PTPN22) encodes a lymphoid-specific phosphatase (LYP) which is an important downregulator of T cell activation. A PTPN22 polymorphism, C1858T, was found associated with type 1 diabetes (T1D) in different Caucasian populations. In this study, we...

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Autores principales: Santiago, Jose Luis, Martínez, Alfonso, de la Calle, Hermenegildo, Fernández-Arquero, Miguel, Figueredo, M Ángeles, de la Concha, Emilio G, Urcelay, Elena
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2007
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1976418/
https://www.ncbi.nlm.nih.gov/pubmed/17697317
http://dx.doi.org/10.1186/1471-2350-8-54
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author Santiago, Jose Luis
Martínez, Alfonso
de la Calle, Hermenegildo
Fernández-Arquero, Miguel
Figueredo, M Ángeles
de la Concha, Emilio G
Urcelay, Elena
author_facet Santiago, Jose Luis
Martínez, Alfonso
de la Calle, Hermenegildo
Fernández-Arquero, Miguel
Figueredo, M Ángeles
de la Concha, Emilio G
Urcelay, Elena
author_sort Santiago, Jose Luis
collection PubMed
description BACKGROUND: The protein tyrosine phosphatase N22 gene (PTPN22) encodes a lymphoid-specific phosphatase (LYP) which is an important downregulator of T cell activation. A PTPN22 polymorphism, C1858T, was found associated with type 1 diabetes (T1D) in different Caucasian populations. In this study, we aimed at confirming the role of this variant in T1D predisposition in the Spanish population. METHODS: A case-control was performed with 316 Spanish white T1D patients consecutively recruited and 554 healthy controls, all of them from the Madrid area. The PTPN22 C1858T SNP was genotyped in both patients and controls using a TaqMan Assay in a 7900 HT Fast Real-Time PCR System. RESULTS: We replicated for the first time in a Spanish population the association of the 1858T allele with an increased risk for developing T1D [carriers of allele T vs. CC: OR (95%) = 1.73 (1.17–2.54); p = 0.004]. Furthermore, this allele showed a significant association in female patients with diabetes onset before age 16 years [carriers of allele T vs. CC: OR (95%) = 2.95 (1.45–6.01), female patients vs female controls p = 0.0009]. No other association in specific subgroups stratified for gender, HLA susceptibility or age at onset were observed. CONCLUSION: Our results provide evidence that the PTPN22 1858T allele is a T1D susceptibility factor also in the Spanish population and it might play a different role in susceptibility to T1D according to gender in early-onset T1D patients.
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spelling pubmed-19764182007-09-14 Susceptibility to type 1 diabetes conferred by the PTPN22 C1858T polymorphism in the Spanish population Santiago, Jose Luis Martínez, Alfonso de la Calle, Hermenegildo Fernández-Arquero, Miguel Figueredo, M Ángeles de la Concha, Emilio G Urcelay, Elena BMC Med Genet Research Article BACKGROUND: The protein tyrosine phosphatase N22 gene (PTPN22) encodes a lymphoid-specific phosphatase (LYP) which is an important downregulator of T cell activation. A PTPN22 polymorphism, C1858T, was found associated with type 1 diabetes (T1D) in different Caucasian populations. In this study, we aimed at confirming the role of this variant in T1D predisposition in the Spanish population. METHODS: A case-control was performed with 316 Spanish white T1D patients consecutively recruited and 554 healthy controls, all of them from the Madrid area. The PTPN22 C1858T SNP was genotyped in both patients and controls using a TaqMan Assay in a 7900 HT Fast Real-Time PCR System. RESULTS: We replicated for the first time in a Spanish population the association of the 1858T allele with an increased risk for developing T1D [carriers of allele T vs. CC: OR (95%) = 1.73 (1.17–2.54); p = 0.004]. Furthermore, this allele showed a significant association in female patients with diabetes onset before age 16 years [carriers of allele T vs. CC: OR (95%) = 2.95 (1.45–6.01), female patients vs female controls p = 0.0009]. No other association in specific subgroups stratified for gender, HLA susceptibility or age at onset were observed. CONCLUSION: Our results provide evidence that the PTPN22 1858T allele is a T1D susceptibility factor also in the Spanish population and it might play a different role in susceptibility to T1D according to gender in early-onset T1D patients. BioMed Central 2007-08-13 /pmc/articles/PMC1976418/ /pubmed/17697317 http://dx.doi.org/10.1186/1471-2350-8-54 Text en Copyright © 2007 Santiago et al; licensee BioMed Central Ltd. http://creativecommons.org/licenses/by/2.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( (http://creativecommons.org/licenses/by/2.0) ), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Research Article
Santiago, Jose Luis
Martínez, Alfonso
de la Calle, Hermenegildo
Fernández-Arquero, Miguel
Figueredo, M Ángeles
de la Concha, Emilio G
Urcelay, Elena
Susceptibility to type 1 diabetes conferred by the PTPN22 C1858T polymorphism in the Spanish population
title Susceptibility to type 1 diabetes conferred by the PTPN22 C1858T polymorphism in the Spanish population
title_full Susceptibility to type 1 diabetes conferred by the PTPN22 C1858T polymorphism in the Spanish population
title_fullStr Susceptibility to type 1 diabetes conferred by the PTPN22 C1858T polymorphism in the Spanish population
title_full_unstemmed Susceptibility to type 1 diabetes conferred by the PTPN22 C1858T polymorphism in the Spanish population
title_short Susceptibility to type 1 diabetes conferred by the PTPN22 C1858T polymorphism in the Spanish population
title_sort susceptibility to type 1 diabetes conferred by the ptpn22 c1858t polymorphism in the spanish population
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1976418/
https://www.ncbi.nlm.nih.gov/pubmed/17697317
http://dx.doi.org/10.1186/1471-2350-8-54
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