The missense PTPN22 C1858T polymorphism recently emerged as an important population-independent risk factor for type 1 diabetes (T1D) and other autoimmune diseases. The PTPN22 gene encodes the lymphoid tyrosine phosphatase (LYP), a negative regulator of signal transduction through the T-cell receptor. Although the frequency of the polymorphism is variable among different ethnic groups, the association between PTPN22 *T1858 and T1D has been replicated in several populations. Here, we contribute the first replication of the association between PTPN22 and T1D in populations from continental Italy, carried out in two independent samples of T1D patients (N = 216 and 82) and controls (N = 271 and 89). Our data also suggest that T1D carriers of the *T1858 allele could be at increased risk for other comorbid autoimmune disorders.

Saccucci, P., Del Duca, E., Rapini, N., Verrotti, A., Piccinini, S., Maccari, A., et al. (2008). Association between PTPN22 C1858T and type 1 diabetes: a replication in continental Italy. TISSUE ANTIGENS, 71(3), 234-237 [10.1111/j.1399-0039.2007.00987.x].

Association between PTPN22 C1858T and type 1 diabetes: a replication in continental Italy

SACCUCCI, PATRIZIA;RAPINI, NOVELLA;CANU, GIOVANNA;ANGELINI, FEDERICA;FONTANA, LUIGI;MANCA BITTI, MARIA LUISA;BOTTINI, NUNZIO
2008-03-01

Abstract

The missense PTPN22 C1858T polymorphism recently emerged as an important population-independent risk factor for type 1 diabetes (T1D) and other autoimmune diseases. The PTPN22 gene encodes the lymphoid tyrosine phosphatase (LYP), a negative regulator of signal transduction through the T-cell receptor. Although the frequency of the polymorphism is variable among different ethnic groups, the association between PTPN22 *T1858 and T1D has been replicated in several populations. Here, we contribute the first replication of the association between PTPN22 and T1D in populations from continental Italy, carried out in two independent samples of T1D patients (N = 216 and 82) and controls (N = 271 and 89). Our data also suggest that T1D carriers of the *T1858 allele could be at increased risk for other comorbid autoimmune disorders.
mar-2008
Pubblicato
Rilevanza internazionale
Articolo
Sì, ma tipo non specificato
Settore MED/01 - STATISTICA MEDICA
English
Con Impact Factor ISI
Male; Adolescent; Alleles; Amino Acid Substitution; Diabetes Mellitus, Type 1; Female; Polymorphism, Single Nucleotide; Italy; Base Sequence; Humans; Gene Frequency; Mutation, Missense; Protein Tyrosine Phosphatase, Non-Receptor Type 22; Child; DNA Primers; Adult; Genetic Predisposition to Disease; Case-Control Studies
Saccucci, P., Del Duca, E., Rapini, N., Verrotti, A., Piccinini, S., Maccari, A., et al. (2008). Association between PTPN22 C1858T and type 1 diabetes: a replication in continental Italy. TISSUE ANTIGENS, 71(3), 234-237 [10.1111/j.1399-0039.2007.00987.x].
Saccucci, P; Del Duca, E; Rapini, N; Verrotti, A; Piccinini, S; Maccari, A; Canu, G; Angelini, F; Fontana, L; Giannini, C; Chiarelli, F; MANCA BITTI, ...espandi
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2108/16399
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