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JAMA Network | JAMA Psychiatry | Genetic Association, Mutation Screening, and Functional Analysis of a Kozak Sequence Variant in the Metabotropic

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Original Article | June 1, 2013

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Genetic Association, Mutation Screening, and Functional Analysis of a Kozak Sequence Variant in the Metabotropic Glutamate Receptor 3 Gene in Bipolar Disorder
Radhika Kandaswamy, MSc, MPhil, PhD; Andrew McQuillin, PhD; Sally I. Sharp, PhD; Alessia Fiorentino, PhD; Adebayo Anjorin, MBchB, MSc, MRCPsych; Robert A. Blizard, MSc, MSc; David Curtis, MBBS, MD, PhD, MRCPsych; Hugh M. D. Gurling, MBBS, MD, MPhil, FRCPsych JAMA Psychiatry. 2013;70(6):591-598. doi:10.1001/jamapsychiatry.2013.38. Text Size:
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Article Figures Tables References Comments

ABSTRACT
ABSTRACT | METHODS | RESULTS | COMMENT | ARTICLE INFORMATION | REFERENCES

ImportanceGeneticmarkersatthegeneencodingthemetabotropicglutamatereceptor3(GRM3)showed
allelicassociationwithbipolardisorder.

ObjectiveToscreentheGRM3geneandadjacentcontrolregionsofgenomicDNAinvolunteerswith
bipolaraffectivedisorderformutationsincreasingsusceptibilitytobipolardisorder.

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DesignSequencingandhighresolutionmeltingcurveanalysisofDNAfollowedbygenotypingwascarried
outin1099patientswithbipolaraffectivedisorderand1152healthycomparatorindividuals.

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SettingParticipantswithbipolardisorderwererecruitedfromNationalHealthServicepsychiatricservices
andfrompatientorganizations.

ParticipantsIndividualswereincludediftheyhadResearchDiagnosticCriteriadiagnosesofbipolarI
andbipolarIIdisorderandwereofBritishorIrishancestry.

MainOutcomesandMeasuresIdentificationofbasepairchangesintheGRM3genethataffected
expressionorfunctionoftheGRM3receptorthatalsoshowedanallelicassociationwithbipolardisorder.

ResultsAbasepairvariant(rs148754219)wasfoundintheKozaksequenceofexon1oftheGRM3gene,2
basesbeforethetranslationstartcodonofoneofthereceptorisoforms,in23of2251peoplewhowere screenedandgenotyped.Nineteenofthe1099bipolarcases(1.7%)weremutationcarrierscomparedwith4 of1152healthycomparators(0.3%).Thevariantwasassociatedwithbipolardisorder(P=.005oddsratio, 4.20).Bioinformatic,electrophoreticmobilityshiftassay,andgeneexpressionanalysisfoundthatthe variantcreatedanewtranscriptionfactorproteinbindingsiteandhadastrongeffectongenetranscription andtranslation.

Related Topics
Bipolar Disorder Genetics Psychiatry

ConclusionsandRelevanceConfirmationofthesefindingsisneededbeforetheKozaksequence
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JAMA Network | JAMA Psychiatry | Genetic Association, Mutation Screening, and Functional Analysis of a Kozak Sequence Variant in the Metabotropic

variantcanbeacceptedasapotentialmarkerforpersonalizedtreatmentofaffectivedisorderswithdrugs targetingthemetabotropicglutamatereceptor3.

PubMed Articles
Valproate robustly enhances AP-1 mediated gene expression. Brain Res Mol Brain Res 1999;;64(1):52-8. Egr1 regulates lithium-induced transcription of the Period 2 (PER2) gene. Biochim Biophys Acta 2013;;1832(12):1969-79. View More Results provided by:

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