Genetic Polymorphism and Idiopathic Generalized Epilepsy. Evidence of Interaction between Haptoglobin and ACP1 Systems

F. Gloria-Bottini; P. Lucarelli; P. Saccucci; E. Cozzoli; C. Cerminara; P. Curatolo; E. Bottini

doi:10.1055/s-0029-1202834

Neuropediatrics, Table of Contents

Neuropediatrics 2008; 39(6): 357-358
DOI: 10.1055/s-0029-1202834

Short Communication

Genetic Polymorphism and Idiopathic Generalized Epilepsy. Evidence of Interaction between Haptoglobin and ACP1 Systems

F. Gloria-Bottini¹ , P. Lucarelli² , P. Saccucci¹ , E. Cozzoli¹ , C. Cerminara³ , P. Curatolo³ , E. Bottini¹

¹Division of Biopathology of Human Populations and Environmental Pathology, Department of Biopathology and Imaging Diagnostics, University of Rome “Tor Vergata”, Rome, Italy
²Institute of Molecular Biology and Pathology, National Research Council, Rome, Italy
³Department of Neurosciences, Pediatric Neurology Unit, University of Rome “Tor Vergata”, Rome, Italy

Abstract

We have investigated possible interactions between ACP1 and Hp concerning their effects on the susceptibility to convulsive disorders. 129 children with idiopathic generalized epilepsy with tonic clonic seizures (IGE) and 127 controls were studied in the population of Rome. There is a significant interaction between Hp and ACP1 concerning their effects on epilepsy. The association of Hp with epilepsy depends on the ACP1 genotypes. In carriers of the *B/*B genotype of ACP1 the risk of epilepsy is much lower in Hp *1/*1 children than in other Hp types. This is not observed in carriers of other ACP1 types.The present data suggest an epistatic action of ACP1 concerning the effect of Hp on the susceptibility to convulsive disorders.

Key words

ACP1 - Hp - epilepsy

Full Text

References

1 Bottini E, Carapella E, Scacchi R. et al . Serum haptoglobin appearance during neonatal period is associated with acid phosphatase (ACP₁) phenotype. Early Hum Develop. 1985; 10 237-243
2 Bottini N, Bottini E, Gloria-Bottini F. et al . Low-molecular-weight protein tyrosine phosphatase and human disease: in search of biochemical mechanisms. Arch Immunol Ther Exp. 2002; 50 95-104
3 Iannaccone U, Bergamaschi A, Magrini A. et al . Serum glucose concentration and ACP₁ genotype in healthy adult subjects. Metabolism Clin Exp. 2004; 54 891-894
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5 Sokal RR, Rohlf FJ. Biometry. Freeman: New York, NY 1981: 253-261

Correspondence

F. Gloria-BottiniMD

Department of Biopathology and Imaging Diagnostics

University of Rome “Tor Vergata”

Via Montpellier 1

00133 Rome

Italy

Phone: +39/6/7259 60 30

Fax: +39/6/7259 60 28

Email: gloria@med.uniroma2.it