Association of intronic variants of the KCNAB1 gene with lateral temporal epilepsy
Summary 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...
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| Veröffentlicht in: | Epilepsy research 2011-03, Vol.94 (1), p.110-116 |
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| creator | 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 |
| description | Summary 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. |
| doi_str_mv | 10.1016/j.eplepsyres.2011.01.010 |
| format | Article |
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Teresa ; Michelucci, Roberto ; Nobile, Carlo</creator><creatorcontrib>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</creatorcontrib><description>Summary 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.</description><identifier>ISSN: 0920-1211</identifier><identifier>EISSN: 1872-6844</identifier><identifier>DOI: 10.1016/j.eplepsyres.2011.01.010</identifier><identifier>PMID: 21333500</identifier><identifier>CODEN: EPIRE8</identifier><language>eng</language><publisher>Kidlington: Elsevier B.V</publisher><subject>Anticonvulsants. Antiepileptics. Antiparkinson agents ; Biological and medical sciences ; Case–control study ; Epilepsy, Temporal Lobe - genetics ; Female ; Gene Frequency ; Genetic Predisposition to Disease ; Genome-Wide Association Study - methods ; Genotype ; Haplotype analysis ; Headache. Facial pains. Syncopes. Epilepsia. Intracranial hypertension. Brain oedema. Cerebral palsy ; Humans ; Introns - genetics ; KCNAB1 ; Kv1.3 Potassium Channel - genetics ; Lateral temporal epilepsy ; Linkage Disequilibrium ; Logistic Models ; Male ; Medical sciences ; Nervous system (semeiology, syndromes) ; Neurology ; Neuropharmacology ; Pharmacology. Drug treatments ; Polymorphism, Single Nucleotide - genetics ; Proteins - genetics ; Proteins - metabolism ; SNPs</subject><ispartof>Epilepsy research, 2011-03, Vol.94 (1), p.110-116</ispartof><rights>Elsevier B.V.</rights><rights>2011 Elsevier B.V.</rights><rights>2015 INIST-CNRS</rights><rights>Copyright © 2011 Elsevier B.V. All rights reserved.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c458t-1916d4b599b485440bcc6f397687fde40844e96904d67017955e911f244a1303</citedby><cites>FETCH-LOGICAL-c458t-1916d4b599b485440bcc6f397687fde40844e96904d67017955e911f244a1303</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://dx.doi.org/10.1016/j.eplepsyres.2011.01.010$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>314,780,784,3550,27924,27925,45995</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=23965774$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/21333500$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Busolin, Giorgia</creatorcontrib><creatorcontrib>Malacrida, Sandro</creatorcontrib><creatorcontrib>Bisulli, Francesca</creatorcontrib><creatorcontrib>Striano, Pasquale</creatorcontrib><creatorcontrib>Di Bonaventura, Carlo</creatorcontrib><creatorcontrib>Egeo, Gabriella</creatorcontrib><creatorcontrib>Pasini, Elena</creatorcontrib><creatorcontrib>Cianci, Vittoria</creatorcontrib><creatorcontrib>Ferlazzo, Edoardo</creatorcontrib><creatorcontrib>Bianchi, Amedeo</creatorcontrib><creatorcontrib>Coppola, Giangennaro</creatorcontrib><creatorcontrib>Elia, Maurizio</creatorcontrib><creatorcontrib>Mecarelli, Oriano</creatorcontrib><creatorcontrib>Gobbi, Giuseppe</creatorcontrib><creatorcontrib>Casellato, Susanna</creatorcontrib><creatorcontrib>Marchini, Marco</creatorcontrib><creatorcontrib>Binelli, Simona</creatorcontrib><creatorcontrib>Freri, Elena</creatorcontrib><creatorcontrib>Granata, Tiziana</creatorcontrib><creatorcontrib>Posar, Annio</creatorcontrib><creatorcontrib>Parmeggiani, Antonia</creatorcontrib><creatorcontrib>Vigliano, Piernanda</creatorcontrib><creatorcontrib>Boniver, Clementina</creatorcontrib><creatorcontrib>Aguglia, Umberto</creatorcontrib><creatorcontrib>Striano, Salvatore</creatorcontrib><creatorcontrib>Tinuper, Paolo</creatorcontrib><creatorcontrib>Giallonardo, A. Teresa</creatorcontrib><creatorcontrib>Michelucci, Roberto</creatorcontrib><creatorcontrib>Nobile, Carlo</creatorcontrib><title>Association of intronic variants of the KCNAB1 gene with lateral temporal epilepsy</title><title>Epilepsy research</title><addtitle>Epilepsy Res</addtitle><description>Summary 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.</description><subject>Anticonvulsants. Antiepileptics. Antiparkinson agents</subject><subject>Biological and medical sciences</subject><subject>Case–control study</subject><subject>Epilepsy, Temporal Lobe - genetics</subject><subject>Female</subject><subject>Gene Frequency</subject><subject>Genetic Predisposition to Disease</subject><subject>Genome-Wide Association Study - methods</subject><subject>Genotype</subject><subject>Haplotype analysis</subject><subject>Headache. Facial pains. Syncopes. Epilepsia. Intracranial hypertension. Brain oedema. Cerebral palsy</subject><subject>Humans</subject><subject>Introns - genetics</subject><subject>KCNAB1</subject><subject>Kv1.3 Potassium Channel - genetics</subject><subject>Lateral temporal epilepsy</subject><subject>Linkage Disequilibrium</subject><subject>Logistic Models</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Nervous system (semeiology, syndromes)</subject><subject>Neurology</subject><subject>Neuropharmacology</subject><subject>Pharmacology. Drug treatments</subject><subject>Polymorphism, Single Nucleotide - genetics</subject><subject>Proteins - genetics</subject><subject>Proteins - metabolism</subject><subject>SNPs</subject><issn>0920-1211</issn><issn>1872-6844</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2011</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqNkU1v1DAQhi0EokvhL6BcEKcsM4kdxxek7YovtaJS6d3yOhPqJRsH21u0_56YXajUE9JItqzHnvHzMlYgLBGwebdd0jTQFA-B4rICxCXkgidsga2syqbl_ClbgKqgxArxjL2IcQsAEjh_zs4qrOtaACzYzSpGb51Jzo-F7ws3puBHZ4t7E5wZU8yH6Y6Ky_XX1QUW32mk4pdLd8VgEgUzFIl2k88bmtyfmV6yZ70ZIr06refs9uOH2_Xn8ur605f16qq0XLSpRIVNxzdCqQ1vBeewsbbpayWbVvYdcZj_QKpRwLtGAkolBCnEvuLcYA31OXt7fHYK_ueeYtI7Fy0NgxnJ76NuRSMl1lzOZHskbfAxBur1FNzOhING0Nmn3uoHnzr71JArN3l9arLf7Kj7d_GvwBl4cwJMtGbogxmtiw9crRohJZ-5iyNHs5F7R0FH62i01LlANunOu_-Z5v2jR-zg5rDM8IMOFLd-H8bZuEYdKw36W84_x484R18pUf8G4J2r9g</recordid><startdate>20110301</startdate><enddate>20110301</enddate><creator>Busolin, Giorgia</creator><creator>Malacrida, Sandro</creator><creator>Bisulli, Francesca</creator><creator>Striano, Pasquale</creator><creator>Di Bonaventura, Carlo</creator><creator>Egeo, Gabriella</creator><creator>Pasini, Elena</creator><creator>Cianci, Vittoria</creator><creator>Ferlazzo, Edoardo</creator><creator>Bianchi, Amedeo</creator><creator>Coppola, Giangennaro</creator><creator>Elia, Maurizio</creator><creator>Mecarelli, Oriano</creator><creator>Gobbi, Giuseppe</creator><creator>Casellato, Susanna</creator><creator>Marchini, Marco</creator><creator>Binelli, Simona</creator><creator>Freri, Elena</creator><creator>Granata, Tiziana</creator><creator>Posar, Annio</creator><creator>Parmeggiani, Antonia</creator><creator>Vigliano, Piernanda</creator><creator>Boniver, Clementina</creator><creator>Aguglia, Umberto</creator><creator>Striano, Salvatore</creator><creator>Tinuper, Paolo</creator><creator>Giallonardo, A. Teresa</creator><creator>Michelucci, Roberto</creator><creator>Nobile, Carlo</creator><general>Elsevier B.V</general><general>Elsevier</general><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope></search><sort><creationdate>20110301</creationdate><title>Association of intronic variants of the KCNAB1 gene with lateral temporal epilepsy</title><author>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. 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Cerebral palsy</topic><topic>Humans</topic><topic>Introns - genetics</topic><topic>KCNAB1</topic><topic>Kv1.3 Potassium Channel - genetics</topic><topic>Lateral temporal epilepsy</topic><topic>Linkage Disequilibrium</topic><topic>Logistic Models</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Nervous system (semeiology, syndromes)</topic><topic>Neurology</topic><topic>Neuropharmacology</topic><topic>Pharmacology. Drug treatments</topic><topic>Polymorphism, Single Nucleotide - genetics</topic><topic>Proteins - genetics</topic><topic>Proteins - metabolism</topic><topic>SNPs</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Busolin, Giorgia</creatorcontrib><creatorcontrib>Malacrida, Sandro</creatorcontrib><creatorcontrib>Bisulli, Francesca</creatorcontrib><creatorcontrib>Striano, Pasquale</creatorcontrib><creatorcontrib>Di Bonaventura, Carlo</creatorcontrib><creatorcontrib>Egeo, Gabriella</creatorcontrib><creatorcontrib>Pasini, Elena</creatorcontrib><creatorcontrib>Cianci, Vittoria</creatorcontrib><creatorcontrib>Ferlazzo, Edoardo</creatorcontrib><creatorcontrib>Bianchi, Amedeo</creatorcontrib><creatorcontrib>Coppola, Giangennaro</creatorcontrib><creatorcontrib>Elia, Maurizio</creatorcontrib><creatorcontrib>Mecarelli, Oriano</creatorcontrib><creatorcontrib>Gobbi, Giuseppe</creatorcontrib><creatorcontrib>Casellato, Susanna</creatorcontrib><creatorcontrib>Marchini, Marco</creatorcontrib><creatorcontrib>Binelli, Simona</creatorcontrib><creatorcontrib>Freri, Elena</creatorcontrib><creatorcontrib>Granata, Tiziana</creatorcontrib><creatorcontrib>Posar, Annio</creatorcontrib><creatorcontrib>Parmeggiani, Antonia</creatorcontrib><creatorcontrib>Vigliano, Piernanda</creatorcontrib><creatorcontrib>Boniver, Clementina</creatorcontrib><creatorcontrib>Aguglia, Umberto</creatorcontrib><creatorcontrib>Striano, Salvatore</creatorcontrib><creatorcontrib>Tinuper, Paolo</creatorcontrib><creatorcontrib>Giallonardo, A. Teresa</creatorcontrib><creatorcontrib>Michelucci, Roberto</creatorcontrib><creatorcontrib>Nobile, Carlo</creatorcontrib><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>Epilepsy research</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Busolin, Giorgia</au><au>Malacrida, Sandro</au><au>Bisulli, Francesca</au><au>Striano, Pasquale</au><au>Di Bonaventura, Carlo</au><au>Egeo, Gabriella</au><au>Pasini, Elena</au><au>Cianci, Vittoria</au><au>Ferlazzo, Edoardo</au><au>Bianchi, Amedeo</au><au>Coppola, Giangennaro</au><au>Elia, Maurizio</au><au>Mecarelli, Oriano</au><au>Gobbi, Giuseppe</au><au>Casellato, Susanna</au><au>Marchini, Marco</au><au>Binelli, Simona</au><au>Freri, Elena</au><au>Granata, Tiziana</au><au>Posar, Annio</au><au>Parmeggiani, Antonia</au><au>Vigliano, Piernanda</au><au>Boniver, Clementina</au><au>Aguglia, Umberto</au><au>Striano, Salvatore</au><au>Tinuper, Paolo</au><au>Giallonardo, A. Teresa</au><au>Michelucci, Roberto</au><au>Nobile, Carlo</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Association of intronic variants of the KCNAB1 gene with lateral temporal epilepsy</atitle><jtitle>Epilepsy research</jtitle><addtitle>Epilepsy Res</addtitle><date>2011-03-01</date><risdate>2011</risdate><volume>94</volume><issue>1</issue><spage>110</spage><epage>116</epage><pages>110-116</pages><issn>0920-1211</issn><eissn>1872-6844</eissn><coden>EPIRE8</coden><abstract>Summary 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.</abstract><cop>Kidlington</cop><pub>Elsevier B.V</pub><pmid>21333500</pmid><doi>10.1016/j.eplepsyres.2011.01.010</doi><tpages>7</tpages></addata></record> |
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| ispartof | Epilepsy research, 2011-03, Vol.94 (1), p.110-116 |
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| subjects | Anticonvulsants. Antiepileptics. Antiparkinson agents Biological and medical sciences Case–control study Epilepsy, Temporal Lobe - genetics Female Gene Frequency Genetic Predisposition to Disease Genome-Wide Association Study - methods Genotype Haplotype analysis Headache. Facial pains. Syncopes. Epilepsia. Intracranial hypertension. Brain oedema. Cerebral palsy Humans Introns - genetics KCNAB1 Kv1.3 Potassium Channel - genetics Lateral temporal epilepsy Linkage Disequilibrium Logistic Models Male Medical sciences Nervous system (semeiology, syndromes) Neurology Neuropharmacology Pharmacology. Drug treatments Polymorphism, Single Nucleotide - genetics Proteins - genetics Proteins - metabolism SNPs |
| title | Association of intronic variants of the KCNAB1 gene with lateral temporal epilepsy |
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