The Arg(972) insulin receptor substrate-1 (IRS-1) variant has been hypothesized to play a role in pancreatic beta-cell stimulus-coupled insulin secretion and survival. We analyzed the relations between type 1 diabetes and the Arg(972) IRS-1 variant. The frequency of the IRS-1 Arg(972) variant was investigated in two independent sets of unrelated patients: a case-control study and a collection of type 1 diabetes simplex families. In the former group, frequency of the IRS-1 Arg(972) variant was significantly increased in the patients (P = 0.0008), conferring an OR of 2.5. Transmission disequilibrium analysis of data obtained from the family set revealed that the Arg(972) IRS-1 variant was transmitted from heterozygous parents to affected probands at a frequency of 70.2% (P < 0.02). Arg(972) IRS-1 frequency showed no significant correlation with HLA genotypic risk for type 1 diabetes. Arg(972) IRS-1 type 1 diabetic patients also had lower fasting plasma concentrations of C-peptide at the time of diagnosis with respect to patients carrying the wild-type IRS-1 (0.49 +/- 0.058, n = 34, and 0.76 +/- 0.066, n = 134, respectively [means +/- SE]; P = 0.051). Our findings suggest a role for Arg(972) IRS-1 in conferring risk for the development of type 1 diabetes.

Federici, M., Petrone, A., Porzio, O., Bizzarri, C., Lauro, D., D'Alfonso, R., et al. (2003). The Gly972-->Arg IRS-1 variant is associated with type 1 diabetes in continental Italy. DIABETES, 52(3), 887-90.

The Gly972-->Arg IRS-1 variant is associated with type 1 diabetes in continental Italy

FEDERICI, MASSIMO;PORZIO, OTTAVIA;LAURO, DAVIDE;D'ALFONSO, ROSSELLA;SESTI, GIORGIO;LAURO, RENATO;
2003-03-01

Abstract

The Arg(972) insulin receptor substrate-1 (IRS-1) variant has been hypothesized to play a role in pancreatic beta-cell stimulus-coupled insulin secretion and survival. We analyzed the relations between type 1 diabetes and the Arg(972) IRS-1 variant. The frequency of the IRS-1 Arg(972) variant was investigated in two independent sets of unrelated patients: a case-control study and a collection of type 1 diabetes simplex families. In the former group, frequency of the IRS-1 Arg(972) variant was significantly increased in the patients (P = 0.0008), conferring an OR of 2.5. Transmission disequilibrium analysis of data obtained from the family set revealed that the Arg(972) IRS-1 variant was transmitted from heterozygous parents to affected probands at a frequency of 70.2% (P < 0.02). Arg(972) IRS-1 frequency showed no significant correlation with HLA genotypic risk for type 1 diabetes. Arg(972) IRS-1 type 1 diabetic patients also had lower fasting plasma concentrations of C-peptide at the time of diagnosis with respect to patients carrying the wild-type IRS-1 (0.49 +/- 0.058, n = 34, and 0.76 +/- 0.066, n = 134, respectively [means +/- SE]; P = 0.051). Our findings suggest a role for Arg(972) IRS-1 in conferring risk for the development of type 1 diabetes.
mar-2003
Pubblicato
Rilevanza internazionale
Articolo
Sì, ma tipo non specificato
Settore BIO/12 - BIOCHIMICA CLINICA E BIOLOGIA MOLECOLARE CLINICA
English
Con Impact Factor ISI
HLA-DR Antigens; Male; Adolescent; Insulin Receptor Substrate Proteins; Infant; Phosphoproteins; Diabetes Mellitus, Type 1; Female; Genetic Variation; Child, Preschool; Italy; Arginine; Genotype; Heterozygote; Humans; HLA Antigens; Polymerase Chain Reaction; Child; HLA-DQ Antigens; Adult; Genetic Predisposition to Disease; Case-Control Studies
Federici, M., Petrone, A., Porzio, O., Bizzarri, C., Lauro, D., D'Alfonso, R., et al. (2003). The Gly972-->Arg IRS-1 variant is associated with type 1 diabetes in continental Italy. DIABETES, 52(3), 887-90.
Federici, M; Petrone, A; Porzio, O; Bizzarri, C; Lauro, D; D'Alfonso, R; Patera, I; Cappa, M; Nisticò, L; Baroni, M; Sesti, G; di Mario, U; Lauro, R;...espandi
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2108/54610
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