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

© Georg Thieme Verlag KG Stuttgart · New York

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

F. Gloria-Bottini 1 , P. Lucarelli 2 , P. Saccucci 1 , E. Cozzoli 1 , C. Cerminara 3 , P. Curatolo 3 , E. Bottini 1
  • 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
Further Information

Publication History

received 06.11.2008

accepted 25.11.2009

Publication Date:
30 June 2009 (online)

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.

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
  • 4 Saccucci P, Verdecchia M, Piciullo A. et al . Convulsive disorder and genetic polymorphism.  Neurogenetics. 2004;  5 245-248
  • 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

    >