Genetic susceptibility in Juvenile Myoclonic Epilepsy: Systematic review of genetic association studies.
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ABSTRACT: Background
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.Methodology
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.Results
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.Conclusions
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.Prospero registration number
CRD42016036063.
SUBMITTER: Santos BPD
PROVIDER: S-EPMC5479548 | biostudies-literature | 2017
REPOSITORIES: biostudies-literature
Publications
Genetic susceptibility in Juvenile Myoclonic Epilepsy: Systematic review of genetic association studies.
Santos Bruna Priscila Dos BPD Marinho Chiara Rachel Maciel CRM Marques Thalita Ewellyn Batista Sales TEBS Angelo Layanne Kelly Gomes LKG Malta Maísa Vieira da Silva MVDS Duzzioni Marcelo M Castro Olagide Wagner de OW Leite João Pereira JP Barbosa Fabiano Timbó FT Gitaí Daniel Leite Góes DLG
PloS one 20170621 6
<h4>Background</h4>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.<h4>Methodology</h4>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 an ...[more]
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