Failure to replicate association between the gene for the neuronal nicotinic acetylcholine receptor alpha 4 subunit (CHRNA4) and IGE.

Abstract

The gene for the neuronal nicotinic acetylcholine receptor alpha4 subunit (CHRNA4) was identified as a gene underlying a rare idiopathic partial epilepsy syndrome in humans, autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE). In a recent study, one of four silent polymorphisms (594 C/T) in CHRNA4 showed association with the common subtypes of idiopathic generalised epilepsy (IGE). In the present study, three of these polymorphisms were investigated for association in 182 Caucasian patients with IGE, but not categorised by subtype. They were compared with 178 controls in a case/control study. Further analyses were performed using a family-based design. None of the three polymorphisms exhibited any association with IGE. Am. J. Med. Genet. (Neuropsychiatr. Genet.) 96:814-816, 2000.

• Authors: B Chioza, H Goodwin, J Blower, D McCormick, L Nashef, P Asherson, A J Makoff
• Journal: American journal of medical genetics (Am J Med Genet) Vol. 96 Issue 6 Pg. 814-6 (Dec 04 2000) ISSN: 0148-7299 [Print] United States
• PMID: 11121188 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: Copyright 2000 Wiley-Liss, Inc.

Chemical References

• Receptors, Nicotinic
• nicotinic acetylcholine receptor alpha4 subunit
• DNA

Topics

• Adult
• Alleles
• DNA (genetics)
• Epilepsy, Generalized (genetics)
• Female
• Gene Frequency
• Genotype
• Humans
• Male
• Polymorphism, Genetic
• Receptors, Nicotinic (genetics)