| Association of alpha subunit of GABAA receptor subtype gene polymorphisms with epilepsy susceptibility and drug resistance in north Indian population. | |
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MedLine Citation:
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PMID: 20356767 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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GABA (gamma-amino butyric acid) receptors have always been an inviting target in the etiology and treatment of epilepsy because of its role as a major inhibitory neurotransmitter in the brain. The aim of our study was to find out the possible role of single nucleotide polymorphisms (SNPs) present in GABRA1 IVS11+15 A>G (rs2279020) and GABRG2 588C>T (rs211037) genes in seizure susceptibility and pharmaco-resistance in northern Indian patients with epilepsy. A total of 395 epilepsy patients and 199 control subjects were enrolled for present study. The genotyping was done by PCR-RFLP methods. The GABRA1 IVS11+15 A>G polymorphism conferred high risk for epilepsy susceptibility at genotype 'AG' (P=0.004, OR=1.77, 95% CI=1.20-2.63), 'GG' (P=0.01, OR=1.80, 95% CI=1.15-2.80) and G allele level (P=0.001, OR=1.50, 95% CI=1.16-1.92). Moreover this polymorphism was also associated with multiple drug resistance in patients with epilepsy for homozygous variant 'GG' genotype (P=0.031, OR=1.84, 95% CI=1.05-3.23) and G allele (P=0.020, OR=1.43, 95% CI=1.05-1.95). However GABRG2 588C>T polymorphism was not found to be associated either with epilepsy susceptibility or with drug resistance. Overall results indicate differential role of different subunits of GABA(A) receptor subtypes in epilepsy susceptibility and pharmacotherapy. |
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Authors:
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Ritu Kumari; Ram Lakhan; J Kalita; U K Misra; Balraj Mittal |
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Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't Date: 2010-03-30 |
Journal Detail:
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Title: Seizure : the journal of the British Epilepsy Association Volume: 19 ISSN: 1532-2688 ISO Abbreviation: Seizure Publication Date: 2010 May |
Date Detail:
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Created Date: 2010-04-16 Completed Date: 2010-07-09 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9306979 Medline TA: Seizure Country: England |
Other Details:
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Languages: eng Pagination: 237-41 Citation Subset: IM |
Copyright Information:
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Copyright 2010 British Epilepsy Association. Published by Elsevier Ltd. All rights reserved. |
Affiliation:
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Department of Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow 226014, India. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Adult Anticonvulsants / therapeutic use Drug Resistance / genetics* Epilepsy / drug therapy, genetics* Female Genetic Predisposition to Disease* Humans India Male Polymerase Chain Reaction Polymorphism, Restriction Fragment Length Polymorphism, Single Nucleotide Receptors, GABA-A / genetics* |
| Chemical | |
Reg. No./Substance:
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0/Anticonvulsants; 0/Receptors, GABA-A |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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