Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/2981
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Type: Journal article
Title: Genetic association studies in epilepsy: The truth is out there
Author: Tan, N.
Mulley, J.
Berkovic, S.
Citation: Epilepsia, 2004; 45(11):1429-1442
Publisher: Blackwell Publishing Inc
Issue Date: 2004
ISSN: 0013-9580
1528-1167
Statement of
Responsibility: 
Nigel C. K. Tan, John C. Mulley, and Samuel F. Berkovic
Abstract: Success has been achieved in identifying many mutations in rare monogenic epilepsy syndromes by using linkage analysis, but dissecting the genetic basis of common epilepsy syndromes has proven more difficult. Common epilepsies are genetically complex disorders believed to be influenced by variation in several susceptibility genes. Association studies can theoretically identify these genes, but despite more than 50 association studies in epilepsy, no consistent or convincing susceptibility genes have emerged, leading to scepticism about the association-study approach. We review the results of existing association studies in focal epilepsies, generalized epilepsies, febrile seizures, and epilepsy pharmacogenetics. By using an illustrative example, we discuss how methodologic issues of sample size, selection of appropriate controls, population stratification, and significance thresholds can lead to bias and false-positive associations; the importance of biologic plausibility also is emphasized. Newer methodologic refinements for association studies, such as use of two control groups, genomic control, haplotyping, and use of two independent datasets, are discussed. A summary of existing guidelines and a checklist for planning and appraising such association studies in epilepsy is presented. We remain cautiously optimistic that with methodologic refinements and multicenter collaborations with large sample sizes, association studies will ultimately be useful in dissecting the genetic basis of common epilepsy syndromes.
Keywords: Humans; Epilepsy; Epilepsy, Temporal Lobe; Interleukin-1; Chromosome Mapping; Gene Frequency; Polymorphism, Genetic
Description: Copyright © 2004 International League Against Epilepsy
Provenance: Published Online: 27 Oct 2004
RMID: 0020041024
DOI: 10.1111/j.0013-9580.2004.22904.x
Appears in Collections:Molecular and Biomedical Science publications

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