title: Association of intronic variants of the KCNAB1 gene with lateral temporal epilepsy.
abstract: 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.
authors.affiliation: CNR-Institute of Neurosciences, Section of Padua, Padova, Italy.
authors.forename: Giorgia
authors.initials: G
authors.lastname: Busolin
authors.forename: Sandro
authors.initials: S
authors.lastname: Malacrida
authors.forename: Francesca
authors.initials: F
authors.lastname: Bisulli
authors.forename: Pasquale
authors.initials: P
authors.lastname: Striano
authors.forename: Carlo
authors.initials: C
authors.lastname: Di Bonaventura
authors.forename: Gabriella
authors.initials: G
authors.lastname: Egeo
authors.forename: Elena
authors.initials: E
authors.lastname: Pasini
authors.forename: Vittoria
authors.initials: V
authors.lastname: Cianci
authors.forename: Edoardo
authors.initials: E
authors.lastname: Ferlazzo
authors.forename: Amedeo
authors.initials: A
authors.lastname: Bianchi
authors.forename: Giangennaro
authors.initials: G
authors.lastname: Coppola
authors.forename: Maurizio
authors.initials: M
authors.lastname: Elia
authors.forename: Oriano
authors.initials: O
authors.lastname: Mecarelli
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Gobbi
authors.forename: Susanna
authors.initials: S
authors.lastname: Casellato
authors.forename: Marco
authors.initials: M
authors.lastname: Marchini
authors.forename: Simona
authors.initials: S
authors.lastname: Binelli
authors.forename: Elena
authors.initials: E
authors.lastname: Freri
authors.forename: Tiziana
authors.initials: T
authors.lastname: Granata
authors.forename: Annio
authors.initials: A
authors.lastname: Posar
authors.forename: Antonia
authors.initials: A
authors.lastname: Parmeggiani
authors.forename: Piernanda
authors.initials: P
authors.lastname: Vigliano
authors.forename: Clementina
authors.initials: C
authors.lastname: Boniver
authors.forename: Umberto
authors.initials: U
authors.lastname: Aguglia
authors.forename: Salvatore
authors.initials: S
authors.lastname: Striano
authors.forename: Paolo
authors.initials: P
authors.lastname: Tinuper
authors.forename: A Teresa
authors.initials: AT
authors.lastname: Giallonardo
authors.forename: Roberto
authors.initials: R
authors.lastname: Michelucci
authors.forename: Carlo
authors.initials: C
authors.lastname: Nobile
mesh_terms: D004833:Epilepsy, Temporal Lobe / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D055106:Genome-Wide Association Study / Q000379:methods*; D005838:Genotype; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D007438:Introns / Q000235:genetics*; D051664:Kv1.3 Potassium Channel / Q000235:genetics*; D015810:Linkage Disequilibrium; D016015:Logistic Models; D008297:Male; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D011506:Proteins / Q000235:genetics / Q000378:metabolism
chemical_list: D047908:Intracellular Signaling Peptides and Proteins; C097044:KCNAB1 protein, human; D051664:Kv1.3 Potassium Channel; C116499:LGI1 protein, human; D011506:Proteins