Association of intronic variants of the KCNAB1 gene with lateral temporal epilepsy
Abstract number :
3.313
Submission category :
11. Human Genetics
Year :
2010
Submission ID :
13325
Source :
www.aesnet.org
Presentation date :
12/3/2010 12:00:00 AM
Published date :
Dec 2, 2010, 06:00 AM
Authors :
Carlo Nobile, G. Busolin, S. Malacrida, F. Bisulli, P. Striano, C. Di Bonaventura, G. Egeo, E. Pasini, V. Cianci, E. Ferlazzo, A. Bianchi, G. Coppola, M. Elia, O. Mecarelli, U. Aguglia, S. Striano, P. Tinuper, A. Giallonardo and R. Michelucci
Rationale: In a recent multicentre screening of common single-nucleotide polymorphisms (SNPs), intronic variants of the KCNAB1 gene were found significantly associated with focal epilepsy in a population-specific manner. KCNAB1 may be implicated in lateral temporal epilepsy (LTE) due to its functional interaction with the LGI1 gene. This study investigated association between polymorphic variants across the KCNAB1 gene and LTE. Methods: The allele and genotype frequencies of fourteen KCNAB1 intronic SNPs were determined in 142 Italian LTE patients and 104 healthy controls and statistically evaluated. Results: A single SNP located near the 3 end of KCNAB1 was significantly associated with LTE after multiple testing correction (odds ratio = 2.25; 95% confidence interval 1.26-4.04; P = 0.0058). Moreover, haplotype analysis revealed two haplotypes with frequencies higher in cases than in controls, one of which was significantly associated with LTE after Bonferroni correction (P = 0.0001) and the other conferred a high risk for the syndrome (odds ratio = 12.24; 95% confidence interval 1.32-113.05; P = 0.028). Conclusions: Our results confirm association of KCNAB1 with focal epilepsy and show that this gene may confer risk for particular forms rather than the whole class of focal epilepsies.
Genetics