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Gene‐Wide Tagging Study of the Association Between KCNT1 Polymorphisms and the Susceptibility and Efficacy of Genetic Generalized Epilepsy in Chinese Population
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| Zeitschriftentitel: | CNS Neuroscience & Therapeutics |
|---|---|
| Personen und Körperschaften: | , , , , , , , , , , , , , , , , |
| In: | CNS Neuroscience & Therapeutics, 20, 2014, 2, S. 140-146 |
| Format: | E-Article |
| Sprache: | Englisch |
| veröffentlicht: |
Wiley
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| Schlagwörter: |
| author_facet |
Qu, Jian Zhang, Ying Yang, Zhi‐Quan Mao, Xiao‐Yuan Zhou, Bo‐Ting Yin, Ji‐Ye He, Hui Li, Xiang‐Ping Long, Hong‐Yu Lv, Nan Xu, Xiao‐Jing Xiao, Bo Zhang, Yu Tang, Qiang Hu, Dong‐Li Zhou, Hong‐Hao Liu, Zhao‐Qian Qu, Jian Zhang, Ying Yang, Zhi‐Quan Mao, Xiao‐Yuan Zhou, Bo‐Ting Yin, Ji‐Ye He, Hui Li, Xiang‐Ping Long, Hong‐Yu Lv, Nan Xu, Xiao‐Jing Xiao, Bo Zhang, Yu Tang, Qiang Hu, Dong‐Li Zhou, Hong‐Hao Liu, Zhao‐Qian |
|---|---|
| author |
Qu, Jian Zhang, Ying Yang, Zhi‐Quan Mao, Xiao‐Yuan Zhou, Bo‐Ting Yin, Ji‐Ye He, Hui Li, Xiang‐Ping Long, Hong‐Yu Lv, Nan Xu, Xiao‐Jing Xiao, Bo Zhang, Yu Tang, Qiang Hu, Dong‐Li Zhou, Hong‐Hao Liu, Zhao‐Qian |
| spellingShingle |
Qu, Jian Zhang, Ying Yang, Zhi‐Quan Mao, Xiao‐Yuan Zhou, Bo‐Ting Yin, Ji‐Ye He, Hui Li, Xiang‐Ping Long, Hong‐Yu Lv, Nan Xu, Xiao‐Jing Xiao, Bo Zhang, Yu Tang, Qiang Hu, Dong‐Li Zhou, Hong‐Hao Liu, Zhao‐Qian CNS Neuroscience & Therapeutics Gene‐Wide Tagging Study of the Association Between KCNT1 Polymorphisms and the Susceptibility and Efficacy of Genetic Generalized Epilepsy in Chinese Population Pharmacology (medical) Physiology (medical) Psychiatry and Mental health Pharmacology |
| author_sort |
qu, jian |
| spelling |
Qu, Jian Zhang, Ying Yang, Zhi‐Quan Mao, Xiao‐Yuan Zhou, Bo‐Ting Yin, Ji‐Ye He, Hui Li, Xiang‐Ping Long, Hong‐Yu Lv, Nan Xu, Xiao‐Jing Xiao, Bo Zhang, Yu Tang, Qiang Hu, Dong‐Li Zhou, Hong‐Hao Liu, Zhao‐Qian 1755-5930 1755-5949 Wiley Pharmacology (medical) Physiology (medical) Psychiatry and Mental health Pharmacology http://dx.doi.org/10.1111/cns.12169 <jats:title>Summary</jats:title><jats:sec><jats:title>Aims</jats:title><jats:p>The causes of genetic generalized epilepsies (<jats:styled-content style="fixed-case">GGE</jats:styled-content>s) are still uncertain now. Some studies found that the human potassium channel, subfamily T, member 1 (<jats:italic><jats:styled-content style="fixed-case">KCNT</jats:styled-content>1</jats:italic>) is the candidate gene causing malignant migrating partial seizures of infancy and autosomal dominant nocturnal frontal lobe epilepsy which are all rare genetic generalized epilepsies. The aims of this study were going to evaluate the association between <jats:italic><jats:styled-content style="fixed-case">KCNT</jats:styled-content>1</jats:italic> common variations and the susceptibility and drug resistance of genetic generalized epilepsies in Chinese population.</jats:p></jats:sec><jats:sec><jats:title>Methods</jats:title><jats:p>The allele‐specific <jats:styled-content style="fixed-case">MALDI</jats:styled-content>–<jats:styled-content style="fixed-case">TOF</jats:styled-content> mass spectrometry method was used to assess 17 tag<jats:styled-content style="fixed-case">SNP</jats:styled-content>s (tagged single‐nucleotide polymorphisms) of <jats:italic><jats:styled-content style="fixed-case">KCNT</jats:styled-content>1</jats:italic> in 284 healthy Chinese controls and 483 Chinese <jats:styled-content style="fixed-case">GGE</jats:styled-content>s patients including 279 anti‐epileptic drug‐responsive patients and 204 drug‐resistant patients.</jats:p></jats:sec><jats:sec><jats:title>Results</jats:title><jats:p>Genotype distributions of all the selected tag<jats:styled-content style="fixed-case">SNP</jats:styled-content>s were consistent with Hardy–Weinberg equilibrium in <jats:styled-content style="fixed-case">GGE</jats:styled-content>s and healthy controls. None of the all 17 tag<jats:styled-content style="fixed-case">SNP</jats:styled-content>s alleles were found to be related with the susceptibility and drug resistance of genetic generalized epilepsies. The frequencies of haplotype 5 and haplotype 1 were significantly lower in <jats:styled-content style="fixed-case">GGE</jats:styled-content>s than that in healthy controls (2% vs. 4%, <jats:styled-content style="fixed-case">OR</jats:styled-content> = 0.47 [0.27–0.94], <jats:italic>P </jats:italic>=<jats:italic> </jats:italic>0.03) and obviously higher in drug‐resistant patients than that in drug‐response patients (6% vs. 3%, <jats:styled-content style="fixed-case">OR</jats:styled-content> = 2.56 [1.23–5.35], <jats:italic>P </jats:italic>=<jats:italic> </jats:italic>0.01). However, after the correction of multiple comparisons with Bonferroni's method, we found that the above two haplotypes were not associated with the susceptibility and drug resistance in <jats:styled-content style="fixed-case">GGE</jats:styled-content>s and healthy controls.</jats:p></jats:sec><jats:sec><jats:title>Conclusion</jats:title><jats:p>This gene‐wide tagging study revealed no association between <jats:italic><jats:styled-content style="fixed-case">KCNT</jats:styled-content>1</jats:italic> 17 common variations and susceptibility of <jats:styled-content style="fixed-case">GGE</jats:styled-content>s or <jats:styled-content style="fixed-case">AED</jats:styled-content>s (anti‐epileptic drugs) efficacy of genetic generalized epilepsies in Chinese population.</jats:p></jats:sec> Gene‐Wide Tagging Study of the Association Between <i><scp>KCNT</scp>1</i> Polymorphisms and the Susceptibility and Efficacy of Genetic Generalized Epilepsy in Chinese Population CNS Neuroscience & Therapeutics |
| doi_str_mv |
10.1111/cns.12169 |
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Biologie Medizin Psychologie Chemie und Pharmazie |
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Wiley, 2014 |
| imprint_str_mv |
Wiley, 2014 |
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1755-5930 1755-5949 |
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CNS Neuroscience & Therapeutics |
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| title |
Gene‐Wide Tagging Study of the Association Between KCNT1 Polymorphisms and the Susceptibility and Efficacy of Genetic Generalized Epilepsy in Chinese Population |
| title_unstemmed |
Gene‐Wide Tagging Study of the Association Between KCNT1 Polymorphisms and the Susceptibility and Efficacy of Genetic Generalized Epilepsy in Chinese Population |
| title_full |
Gene‐Wide Tagging Study of the Association Between KCNT1 Polymorphisms and the Susceptibility and Efficacy of Genetic Generalized Epilepsy in Chinese Population |
| title_fullStr |
Gene‐Wide Tagging Study of the Association Between KCNT1 Polymorphisms and the Susceptibility and Efficacy of Genetic Generalized Epilepsy in Chinese Population |
| title_full_unstemmed |
Gene‐Wide Tagging Study of the Association Between KCNT1 Polymorphisms and the Susceptibility and Efficacy of Genetic Generalized Epilepsy in Chinese Population |
| title_short |
Gene‐Wide Tagging Study of the Association Between KCNT1 Polymorphisms and the Susceptibility and Efficacy of Genetic Generalized Epilepsy in Chinese Population |
| title_sort |
gene‐wide tagging study of the association between <i><scp>kcnt</scp>1</i> polymorphisms and the susceptibility and efficacy of genetic generalized epilepsy in chinese population |
| topic |
Pharmacology (medical) Physiology (medical) Psychiatry and Mental health Pharmacology |
| url |
http://dx.doi.org/10.1111/cns.12169 |
| publishDate |
2014 |
| physical |
140-146 |
| description |
<jats:title>Summary</jats:title><jats:sec><jats:title>Aims</jats:title><jats:p>The causes of genetic generalized epilepsies (<jats:styled-content style="fixed-case">GGE</jats:styled-content>s) are still uncertain now. Some studies found that the human potassium channel, subfamily T, member 1 (<jats:italic><jats:styled-content style="fixed-case">KCNT</jats:styled-content>1</jats:italic>) is the candidate gene causing malignant migrating partial seizures of infancy and autosomal dominant nocturnal frontal lobe epilepsy which are all rare genetic generalized epilepsies. The aims of this study were going to evaluate the association between <jats:italic><jats:styled-content style="fixed-case">KCNT</jats:styled-content>1</jats:italic> common variations and the susceptibility and drug resistance of genetic generalized epilepsies in Chinese population.</jats:p></jats:sec><jats:sec><jats:title>Methods</jats:title><jats:p>The allele‐specific <jats:styled-content style="fixed-case">MALDI</jats:styled-content>–<jats:styled-content style="fixed-case">TOF</jats:styled-content> mass spectrometry method was used to assess 17 tag<jats:styled-content style="fixed-case">SNP</jats:styled-content>s (tagged single‐nucleotide polymorphisms) of <jats:italic><jats:styled-content style="fixed-case">KCNT</jats:styled-content>1</jats:italic> in 284 healthy Chinese controls and 483 Chinese <jats:styled-content style="fixed-case">GGE</jats:styled-content>s patients including 279 anti‐epileptic drug‐responsive patients and 204 drug‐resistant patients.</jats:p></jats:sec><jats:sec><jats:title>Results</jats:title><jats:p>Genotype distributions of all the selected tag<jats:styled-content style="fixed-case">SNP</jats:styled-content>s were consistent with Hardy–Weinberg equilibrium in <jats:styled-content style="fixed-case">GGE</jats:styled-content>s and healthy controls. None of the all 17 tag<jats:styled-content style="fixed-case">SNP</jats:styled-content>s alleles were found to be related with the susceptibility and drug resistance of genetic generalized epilepsies. The frequencies of haplotype 5 and haplotype 1 were significantly lower in <jats:styled-content style="fixed-case">GGE</jats:styled-content>s than that in healthy controls (2% vs. 4%, <jats:styled-content style="fixed-case">OR</jats:styled-content> = 0.47 [0.27–0.94], <jats:italic>P </jats:italic>=<jats:italic> </jats:italic>0.03) and obviously higher in drug‐resistant patients than that in drug‐response patients (6% vs. 3%, <jats:styled-content style="fixed-case">OR</jats:styled-content> = 2.56 [1.23–5.35], <jats:italic>P </jats:italic>=<jats:italic> </jats:italic>0.01). However, after the correction of multiple comparisons with Bonferroni's method, we found that the above two haplotypes were not associated with the susceptibility and drug resistance in <jats:styled-content style="fixed-case">GGE</jats:styled-content>s and healthy controls.</jats:p></jats:sec><jats:sec><jats:title>Conclusion</jats:title><jats:p>This gene‐wide tagging study revealed no association between <jats:italic><jats:styled-content style="fixed-case">KCNT</jats:styled-content>1</jats:italic> 17 common variations and susceptibility of <jats:styled-content style="fixed-case">GGE</jats:styled-content>s or <jats:styled-content style="fixed-case">AED</jats:styled-content>s (anti‐epileptic drugs) efficacy of genetic generalized epilepsies in Chinese population.</jats:p></jats:sec> |
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| author | Qu, Jian, Zhang, Ying, Yang, Zhi‐Quan, Mao, Xiao‐Yuan, Zhou, Bo‐Ting, Yin, Ji‐Ye, He, Hui, Li, Xiang‐Ping, Long, Hong‐Yu, Lv, Nan, Xu, Xiao‐Jing, Xiao, Bo, Zhang, Yu, Tang, Qiang, Hu, Dong‐Li, Zhou, Hong‐Hao, Liu, Zhao‐Qian |
| author_facet | Qu, Jian, Zhang, Ying, Yang, Zhi‐Quan, Mao, Xiao‐Yuan, Zhou, Bo‐Ting, Yin, Ji‐Ye, He, Hui, Li, Xiang‐Ping, Long, Hong‐Yu, Lv, Nan, Xu, Xiao‐Jing, Xiao, Bo, Zhang, Yu, Tang, Qiang, Hu, Dong‐Li, Zhou, Hong‐Hao, Liu, Zhao‐Qian, Qu, Jian, Zhang, Ying, Yang, Zhi‐Quan, Mao, Xiao‐Yuan, Zhou, Bo‐Ting, Yin, Ji‐Ye, He, Hui, Li, Xiang‐Ping, Long, Hong‐Yu, Lv, Nan, Xu, Xiao‐Jing, Xiao, Bo, Zhang, Yu, Tang, Qiang, Hu, Dong‐Li, Zhou, Hong‐Hao, Liu, Zhao‐Qian |
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| description | <jats:title>Summary</jats:title><jats:sec><jats:title>Aims</jats:title><jats:p>The causes of genetic generalized epilepsies (<jats:styled-content style="fixed-case">GGE</jats:styled-content>s) are still uncertain now. Some studies found that the human potassium channel, subfamily T, member 1 (<jats:italic><jats:styled-content style="fixed-case">KCNT</jats:styled-content>1</jats:italic>) is the candidate gene causing malignant migrating partial seizures of infancy and autosomal dominant nocturnal frontal lobe epilepsy which are all rare genetic generalized epilepsies. The aims of this study were going to evaluate the association between <jats:italic><jats:styled-content style="fixed-case">KCNT</jats:styled-content>1</jats:italic> common variations and the susceptibility and drug resistance of genetic generalized epilepsies in Chinese population.</jats:p></jats:sec><jats:sec><jats:title>Methods</jats:title><jats:p>The allele‐specific <jats:styled-content style="fixed-case">MALDI</jats:styled-content>–<jats:styled-content style="fixed-case">TOF</jats:styled-content> mass spectrometry method was used to assess 17 tag<jats:styled-content style="fixed-case">SNP</jats:styled-content>s (tagged single‐nucleotide polymorphisms) of <jats:italic><jats:styled-content style="fixed-case">KCNT</jats:styled-content>1</jats:italic> in 284 healthy Chinese controls and 483 Chinese <jats:styled-content style="fixed-case">GGE</jats:styled-content>s patients including 279 anti‐epileptic drug‐responsive patients and 204 drug‐resistant patients.</jats:p></jats:sec><jats:sec><jats:title>Results</jats:title><jats:p>Genotype distributions of all the selected tag<jats:styled-content style="fixed-case">SNP</jats:styled-content>s were consistent with Hardy–Weinberg equilibrium in <jats:styled-content style="fixed-case">GGE</jats:styled-content>s and healthy controls. None of the all 17 tag<jats:styled-content style="fixed-case">SNP</jats:styled-content>s alleles were found to be related with the susceptibility and drug resistance of genetic generalized epilepsies. The frequencies of haplotype 5 and haplotype 1 were significantly lower in <jats:styled-content style="fixed-case">GGE</jats:styled-content>s than that in healthy controls (2% vs. 4%, <jats:styled-content style="fixed-case">OR</jats:styled-content> = 0.47 [0.27–0.94], <jats:italic>P </jats:italic>=<jats:italic> </jats:italic>0.03) and obviously higher in drug‐resistant patients than that in drug‐response patients (6% vs. 3%, <jats:styled-content style="fixed-case">OR</jats:styled-content> = 2.56 [1.23–5.35], <jats:italic>P </jats:italic>=<jats:italic> </jats:italic>0.01). However, after the correction of multiple comparisons with Bonferroni's method, we found that the above two haplotypes were not associated with the susceptibility and drug resistance in <jats:styled-content style="fixed-case">GGE</jats:styled-content>s and healthy controls.</jats:p></jats:sec><jats:sec><jats:title>Conclusion</jats:title><jats:p>This gene‐wide tagging study revealed no association between <jats:italic><jats:styled-content style="fixed-case">KCNT</jats:styled-content>1</jats:italic> 17 common variations and susceptibility of <jats:styled-content style="fixed-case">GGE</jats:styled-content>s or <jats:styled-content style="fixed-case">AED</jats:styled-content>s (anti‐epileptic drugs) efficacy of genetic generalized epilepsies in Chinese population.</jats:p></jats:sec> |
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| id | ai-49-aHR0cDovL2R4LmRvaS5vcmcvMTAuMTExMS9jbnMuMTIxNjk |
| imprint | Wiley, 2014 |
| imprint_str_mv | Wiley, 2014 |
| institution | DE-Gla1, DE-Zi4, DE-15, DE-Pl11, DE-Rs1, DE-105, DE-14, DE-Ch1, DE-L229, DE-D275, DE-Bn3, DE-Brt1, DE-Zwi2, DE-D161 |
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| spelling | Qu, Jian Zhang, Ying Yang, Zhi‐Quan Mao, Xiao‐Yuan Zhou, Bo‐Ting Yin, Ji‐Ye He, Hui Li, Xiang‐Ping Long, Hong‐Yu Lv, Nan Xu, Xiao‐Jing Xiao, Bo Zhang, Yu Tang, Qiang Hu, Dong‐Li Zhou, Hong‐Hao Liu, Zhao‐Qian 1755-5930 1755-5949 Wiley Pharmacology (medical) Physiology (medical) Psychiatry and Mental health Pharmacology http://dx.doi.org/10.1111/cns.12169 <jats:title>Summary</jats:title><jats:sec><jats:title>Aims</jats:title><jats:p>The causes of genetic generalized epilepsies (<jats:styled-content style="fixed-case">GGE</jats:styled-content>s) are still uncertain now. Some studies found that the human potassium channel, subfamily T, member 1 (<jats:italic><jats:styled-content style="fixed-case">KCNT</jats:styled-content>1</jats:italic>) is the candidate gene causing malignant migrating partial seizures of infancy and autosomal dominant nocturnal frontal lobe epilepsy which are all rare genetic generalized epilepsies. The aims of this study were going to evaluate the association between <jats:italic><jats:styled-content style="fixed-case">KCNT</jats:styled-content>1</jats:italic> common variations and the susceptibility and drug resistance of genetic generalized epilepsies in Chinese population.</jats:p></jats:sec><jats:sec><jats:title>Methods</jats:title><jats:p>The allele‐specific <jats:styled-content style="fixed-case">MALDI</jats:styled-content>–<jats:styled-content style="fixed-case">TOF</jats:styled-content> mass spectrometry method was used to assess 17 tag<jats:styled-content style="fixed-case">SNP</jats:styled-content>s (tagged single‐nucleotide polymorphisms) of <jats:italic><jats:styled-content style="fixed-case">KCNT</jats:styled-content>1</jats:italic> in 284 healthy Chinese controls and 483 Chinese <jats:styled-content style="fixed-case">GGE</jats:styled-content>s patients including 279 anti‐epileptic drug‐responsive patients and 204 drug‐resistant patients.</jats:p></jats:sec><jats:sec><jats:title>Results</jats:title><jats:p>Genotype distributions of all the selected tag<jats:styled-content style="fixed-case">SNP</jats:styled-content>s were consistent with Hardy–Weinberg equilibrium in <jats:styled-content style="fixed-case">GGE</jats:styled-content>s and healthy controls. None of the all 17 tag<jats:styled-content style="fixed-case">SNP</jats:styled-content>s alleles were found to be related with the susceptibility and drug resistance of genetic generalized epilepsies. The frequencies of haplotype 5 and haplotype 1 were significantly lower in <jats:styled-content style="fixed-case">GGE</jats:styled-content>s than that in healthy controls (2% vs. 4%, <jats:styled-content style="fixed-case">OR</jats:styled-content> = 0.47 [0.27–0.94], <jats:italic>P </jats:italic>=<jats:italic> </jats:italic>0.03) and obviously higher in drug‐resistant patients than that in drug‐response patients (6% vs. 3%, <jats:styled-content style="fixed-case">OR</jats:styled-content> = 2.56 [1.23–5.35], <jats:italic>P </jats:italic>=<jats:italic> </jats:italic>0.01). However, after the correction of multiple comparisons with Bonferroni's method, we found that the above two haplotypes were not associated with the susceptibility and drug resistance in <jats:styled-content style="fixed-case">GGE</jats:styled-content>s and healthy controls.</jats:p></jats:sec><jats:sec><jats:title>Conclusion</jats:title><jats:p>This gene‐wide tagging study revealed no association between <jats:italic><jats:styled-content style="fixed-case">KCNT</jats:styled-content>1</jats:italic> 17 common variations and susceptibility of <jats:styled-content style="fixed-case">GGE</jats:styled-content>s or <jats:styled-content style="fixed-case">AED</jats:styled-content>s (anti‐epileptic drugs) efficacy of genetic generalized epilepsies in Chinese population.</jats:p></jats:sec> Gene‐Wide Tagging Study of the Association Between <i><scp>KCNT</scp>1</i> Polymorphisms and the Susceptibility and Efficacy of Genetic Generalized Epilepsy in Chinese Population CNS Neuroscience & Therapeutics |
| spellingShingle | Qu, Jian, Zhang, Ying, Yang, Zhi‐Quan, Mao, Xiao‐Yuan, Zhou, Bo‐Ting, Yin, Ji‐Ye, He, Hui, Li, Xiang‐Ping, Long, Hong‐Yu, Lv, Nan, Xu, Xiao‐Jing, Xiao, Bo, Zhang, Yu, Tang, Qiang, Hu, Dong‐Li, Zhou, Hong‐Hao, Liu, Zhao‐Qian, CNS Neuroscience & Therapeutics, Gene‐Wide Tagging Study of the Association Between KCNT1 Polymorphisms and the Susceptibility and Efficacy of Genetic Generalized Epilepsy in Chinese Population, Pharmacology (medical), Physiology (medical), Psychiatry and Mental health, Pharmacology |
| title | Gene‐Wide Tagging Study of the Association Between KCNT1 Polymorphisms and the Susceptibility and Efficacy of Genetic Generalized Epilepsy in Chinese Population |
| title_full | Gene‐Wide Tagging Study of the Association Between KCNT1 Polymorphisms and the Susceptibility and Efficacy of Genetic Generalized Epilepsy in Chinese Population |
| title_fullStr | Gene‐Wide Tagging Study of the Association Between KCNT1 Polymorphisms and the Susceptibility and Efficacy of Genetic Generalized Epilepsy in Chinese Population |
| title_full_unstemmed | Gene‐Wide Tagging Study of the Association Between KCNT1 Polymorphisms and the Susceptibility and Efficacy of Genetic Generalized Epilepsy in Chinese Population |
| title_short | Gene‐Wide Tagging Study of the Association Between KCNT1 Polymorphisms and the Susceptibility and Efficacy of Genetic Generalized Epilepsy in Chinese Population |
| title_sort | gene‐wide tagging study of the association between <i><scp>kcnt</scp>1</i> polymorphisms and the susceptibility and efficacy of genetic generalized epilepsy in chinese population |
| title_unstemmed | Gene‐Wide Tagging Study of the Association Between KCNT1 Polymorphisms and the Susceptibility and Efficacy of Genetic Generalized Epilepsy in Chinese Population |
| topic | Pharmacology (medical), Physiology (medical), Psychiatry and Mental health, Pharmacology |
| url | http://dx.doi.org/10.1111/cns.12169 |