Association of intronic variants of the KCNAB1 gene with lateral temporal epilepsy

作者：Busolin Giorgia; Malacrida Sandro; Bisulli Francesca; Striano Pasquale; Di Bonaventura Carlo; Egeo Gabriella; Pasini Elena; Cianci Vittoria; Ferlazzo Edoardo; Bianchi Amedeo; Coppola Giangennaro; Elia Maurizio; Mecarelli Oriano; Gobbi Giuseppe; Casellato Susanna; Marchini Marco; Binelli Simona; Freri Elena; Granata Tiziana; Posar Annio; Parmeggiani Antonia; Vigliano Piernanda; Boniver Clementina; Aguglia Umberto; Striano Salvatore; Tinuper Paolo; Giallonardo A Teresa

来源：Epilepsy Research, 2011, 94(1-2): 110-116.

DOI：10.1016/j.eplepsyres.2011.01.010

• Lateral temporal epilepsy
• KCNAB1
• Case-control study
• SNPs
• Haplotype analysis

The KCNAB1 gene is a candidate susceptibility factor for lateral temporal epilepsy (LTE) because of its functional interaction with LGI1, the gene responsible for the autosomal dominant form of LTE. We investigated association between polymorphic variants across the KCNAB1 gene and LTE. The allele and genotype frequencies of 14 KCNAB1 intronic SNPs were determined in 142 Italian LTE patients and 104 healthy controls and statistically evaluated. Single SNP analysis revealed one SNP (rs992353) located near the 3'end of KCNAB1 slightly associated with LTE after multiple testing correction (odds ratio = 2.25; 95% confidence interval 1.26-4.04; P=0.0058). Haplotype analysis revealed two haplotypes with frequencies higher in cases than in controls, and these differences were statistically significant after permutation tests (Psim = 0.047 and 0.034). One of these haplotypes was shown to confer a high risk for the syndrome (odds ratio = 12.24; 95% confidence interval 1.32-113.05) by logistic regression analysis. These results support KCNAB1 as a susceptibility gene for LTE, in agreement with previous studies showing that this gene may alter susceptibility to focal epilepsy.

• 出版日期2011-3