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.
| Original language | English |
|---|---|
| Pages (from-to) | 110-116 |
| Number of pages | 7 |
| Journal | Epilepsy Research |
| Volume | 94 |
| Issue number | 1-2 |
| DOIs | |
| Publication status | Published - Mar 2011 |
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Keywords
- Case-control study
- Haplotype analysis
- KCNAB1
- Lateral temporal epilepsy
- SNPs
ASJC Scopus subject areas
- Clinical Neurology
- Neurology
Cite this
Association of intronic variants of the KCNAB1 gene with lateral temporal epilepsy. / 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; Michelucci, Roberto; Nobile, Carlo.
In: Epilepsy Research, Vol. 94, No. 1-2, 03.2011, p. 110-116.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Association of intronic variants of the KCNAB1 gene with lateral temporal epilepsy
AU - Busolin, Giorgia
AU - Malacrida, Sandro
AU - Bisulli, Francesca
AU - Striano, Pasquale
AU - Di Bonaventura, Carlo
AU - Egeo, Gabriella
AU - Pasini, Elena
AU - Cianci, Vittoria
AU - Ferlazzo, Edoardo
AU - Bianchi, Amedeo
AU - Coppola, Giangennaro
AU - Elia, Maurizio
AU - Mecarelli, Oriano
AU - Gobbi, Giuseppe
AU - Casellato, Susanna
AU - Marchini, Marco
AU - Binelli, Simona
AU - Freri, Elena
AU - Granata, Tiziana
AU - Posar, Annio
AU - Parmeggiani, Antonia
AU - Vigliano, Piernanda
AU - Boniver, Clementina
AU - Aguglia, Umberto
AU - Striano, Salvatore
AU - Tinuper, Paolo
AU - Giallonardo, A. Teresa
AU - Michelucci, Roberto
AU - Nobile, Carlo
PY - 2011/3
Y1 - 2011/3
N2 - 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.
AB - 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.
KW - Case-control study
KW - Haplotype analysis
KW - KCNAB1
KW - Lateral temporal epilepsy
KW - SNPs
UR - http://www.scopus.com/inward/record.url?scp=79952453380&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=79952453380&partnerID=8YFLogxK
U2 - 10.1016/j.eplepsyres.2011.01.010
DO - 10.1016/j.eplepsyres.2011.01.010
M3 - Article
C2 - 21333500
AN - SCOPUS:79952453380
VL - 94
SP - 110
EP - 116
JO - Epilepsy Research
JF - Epilepsy Research
SN - 0920-1211
IS - 1-2
ER -