Protein tyrosine phosphatases (PTPases) have recently been recognized as important modulators of various signal transduction pathways in immune cells. Genetic polymorphisms have been described in genes codifying for members of this family of enzymes, and the genetics of PTPases is predicted to play an important role in the etiology of immune diseases and of their clinical variability. The low molecular weight protein tyrosine phosphatase (ACP1 or LMPTP) is one of the few PTPases with a known genetic polymorphism, and has been proposed to be associated with atopic dermatitis in a small sample from an Italian population. In this paper we describe the association of the ACP1 polymorphism with total IgE levels in two independent samples from English and Italian populations. In both the samples the mean value of serum IgE is lower among subjects carrying the BC genotype than in other ACP1 genotypes. The BC genotype is associated with the highest total ACP1 enzymatic activity. Our data suggest that one or both of the ACP1 isoforms exert an inhibitory role on some signal transduction pathway relevant for IgE hyperproduction.

Bottini, N., Otsu, A., Borgiani, P., Saccucci, P., Stefanini, L., Greco, E., et al. (2003). Genetic control of serum IgE levels: a study of low molecular weight protein tyrosine phosphatase. CLINICAL GENETICS, 63(3), 228-231.

Genetic control of serum IgE levels: a study of low molecular weight protein tyrosine phosphatase.

BOTTINI, NUNZIO;BORGIANI, PAOLA;SACCUCCI, PATRIZIA;GRECO, ELISABETTA;FONTANA, LUIGI;
2003

Abstract

Protein tyrosine phosphatases (PTPases) have recently been recognized as important modulators of various signal transduction pathways in immune cells. Genetic polymorphisms have been described in genes codifying for members of this family of enzymes, and the genetics of PTPases is predicted to play an important role in the etiology of immune diseases and of their clinical variability. The low molecular weight protein tyrosine phosphatase (ACP1 or LMPTP) is one of the few PTPases with a known genetic polymorphism, and has been proposed to be associated with atopic dermatitis in a small sample from an Italian population. In this paper we describe the association of the ACP1 polymorphism with total IgE levels in two independent samples from English and Italian populations. In both the samples the mean value of serum IgE is lower among subjects carrying the BC genotype than in other ACP1 genotypes. The BC genotype is associated with the highest total ACP1 enzymatic activity. Our data suggest that one or both of the ACP1 isoforms exert an inhibitory role on some signal transduction pathway relevant for IgE hyperproduction.
Pubblicato
Rilevanza internazionale
Articolo
Sì, ma tipo non specificato
Settore MED/03 - Genetica Medica
English
Bottini, N., Otsu, A., Borgiani, P., Saccucci, P., Stefanini, L., Greco, E., et al. (2003). Genetic control of serum IgE levels: a study of low molecular weight protein tyrosine phosphatase. CLINICAL GENETICS, 63(3), 228-231.
Bottini, N; Otsu, A; Borgiani, P; Saccucci, P; Stefanini, L; Greco, E; Fontana, L; Hopkins, J; Mao, X
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2108/103600
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