Genetic susceptibility in Juvenile Myoclonic Epilepsy: Systematic review of genetic association studies

Several genetic association investigations have been performed over the last three decades to identify variants underlying Juvenile Myoclonic Epilepsy (JME). Here, we evaluate the accumulating findings and provide an updated perspective of these studies. A systematic literature search was conducted...

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Bibliographic Details
Published in:	PloS one Vol. 12; no. 6; p. e0179629
Main Authors:	Santos, Bruna Priscila Dos, Marinho, Chiara Rachel Maciel, Marques, Thalita Ewellyn Batista Sales, Angelo, Layanne Kelly Gomes, Malta, Maísa Vieira da Silva, Duzzioni, Marcelo, Castro, Olagide Wagner de, Leite, João Pereira, Barbosa, Fabiano Timbó, Gitaí, Daniel Leite Góes
Format:	Journal Article
Language:	English
Published:	United States Public Library of Science 21-06-2017 Public Library of Science (PLoS)
Subjects:	Biology and Life Sciences Chromosomes Connexin 36 Connexins - genetics Databases, Factual Disease susceptibility Epilepsy Experimental design Gap Junction delta-2 Protein Genes Genetic aspects Genetic Association Studies Genetic polymorphisms Genomes Humans Medicine and Health Sciences Molecular biology Myoclonic epilepsy Myoclonic Epilepsy, Juvenile - genetics Myoclonic Epilepsy, Juvenile - pathology Physiological aspects Polymorphism, Single Nucleotide Population studies Protein Serine-Threonine Kinases - genetics Psychological aspects Receptors, Metabotropic Glutamate - genetics Research and Analysis Methods Risk factors Scientific papers Search engines Single-nucleotide polymorphism Studies Transcription Factors Brazil
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Summary:	Several genetic association investigations have been performed over the last three decades to identify variants underlying Juvenile Myoclonic Epilepsy (JME). Here, we evaluate the accumulating findings and provide an updated perspective of these studies. A systematic literature search was conducted using the PubMed, Embase, Scopus, Lilacs, epiGAD, Google Scholar and Sigle up to February 12, 2016. The quality of the included studies was assessed by a score and classified as low and high quality. Beyond outcome measures, information was extracted on the setting for each study, characteristics of population samples and polymorphisms. Fifty studies met eligibility criteria and were used for data extraction. With a single exception, all studies used a candidate gene approach, providing data on 229 polymorphisms in or near 55 different genes. Of variants investigating in independent data sets, only rs2029461 SNP in GRM4, rs3743123 in CX36 and rs3918149 in BRD2 showed a significant association with JME in at least two different background populations. The lack of consistent associations might be due to variations in experimental design and/or limitations of the approach. Thus, despite intense research evidence established, specific genetic variants in JME susceptibility remain inconclusive. We discussed several issues that may compromise the quality of the results, including methodological bias, endophenotype and potential involvement of epigenetic factors. CRD42016036063.
Bibliography:	ObjectType-Article-2 SourceType-Scholarly Journals-1 ObjectType-Feature-3 content type line 23 ObjectType-Review-1 ObjectType-Undefined-4 Conceptualization: BPS CRMM DLGG.Data curation: BPS DLGG.Formal analysis: BPS LKGA FTB.Funding acquisition: DLGG.Investigation: BPS CRMM TEBSM LKGA MVSM.Methodology: BPS TEBSM LKGA.Project administration: DLGG.Resources: DLGG.Supervision: DLGG.Validation: BPS TEBSM.Writing – original draft: BPS MD OWC DLGG.Writing – review & editing: MVSM JPL FTB DLGG. Competing Interests: The authors have declared that no competing interests exist.
ISSN:	1932-6203 1932-6203
DOI:	10.1371/journal.pone.0179629