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Susceptibility to type 1 diabetes conferred by the PTPN22 C1858T polymorphism in the Spanish population.
BMC Med Genet 2007; 8:54BM

Abstract

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.

Authors+Show Affiliations

Immunology Department, Hospital Universitario San Carlos, Madrid, Spain. jlsantial@gmail.comNo 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

17697317

Citation

Santiago, Jose Luis, et al. "Susceptibility to Type 1 Diabetes Conferred By the PTPN22 C1858T Polymorphism in the Spanish Population." BMC Medical Genetics, vol. 8, 2007, p. 54.
Santiago JL, Martínez A, de la Calle H, et al. Susceptibility to type 1 diabetes conferred by the PTPN22 C1858T polymorphism in the Spanish population. BMC Med Genet. 2007;8:54.
Santiago, J. L., Martínez, A., de la Calle, H., Fernández-Arquero, M., Figueredo, M. A., de la Concha, E. G., & Urcelay, E. (2007). Susceptibility to type 1 diabetes conferred by the PTPN22 C1858T polymorphism in the Spanish population. BMC Medical Genetics, 8, p. 54.
Santiago JL, et al. Susceptibility to Type 1 Diabetes Conferred By the PTPN22 C1858T Polymorphism in the Spanish Population. BMC Med Genet. 2007 Aug 13;8:54. PubMed PMID: 17697317.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Susceptibility to type 1 diabetes conferred by the PTPN22 C1858T polymorphism in the Spanish population. AU - Santiago,Jose Luis, AU - Martínez,Alfonso, AU - de la Calle,Hermenegildo, AU - Fernández-Arquero,Miguel, AU - Figueredo,M Angeles, AU - de la Concha,Emilio G, AU - Urcelay,Elena, Y1 - 2007/08/13/ PY - 2007/03/19/received PY - 2007/08/13/accepted PY - 2007/8/19/pubmed PY - 2007/9/18/medline PY - 2007/8/19/entrez SP - 54 EP - 54 JF - BMC medical genetics JO - BMC Med. Genet. VL - 8 N2 - 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. SN - 1471-2350 UR - https://www.unboundmedicine.com/medline/citation/17697317/Susceptibility_to_type_1_diabetes_conferred_by_the_PTPN22_C1858T_polymorphism_in_the_Spanish_population_ L2 - https://bmcmedgenet.biomedcentral.com/articles/10.1186/1471-2350-8-54 DB - PRIME DP - Unbound Medicine ER -