ArticleType2DiabetesVariantsDisruptFunctionofSLC16A11throughTwoDistinctMechanismsGraphicalAbstractHighlightsdTheT2D-riskhaplotypecontainsacis-eQTLforlowerSLC16A11expressioninliverdT2D-riskvariantsdisruptaSLC16A11-BSGinteractionandcell-surfacelocalizationdReducedSLC16A11inducesmetabolicchangesassociatedwithincreasedT2DriskdTherapeuticsthatenhanceSLC16A11levelsoractivitymaybebeneficialforT2DAuthorsVictorRusu,EitanHoch,JosepM.Mercader,...,JoseC.Florez,SuzanneB.R.Jacobs,EricS.LanderCorrespondencejcflorez@mgh.harvard.edu(J.C.F.),lander@broadinstitute.org(E.S.L.)InBriefGeneticvariantsassociatedwithtype2diabetesimpairfunctionofamonocarboxylatetransporterthatinturnimpactsthemetabolicstateofthecell.Rusuetal.,2017,Cell170,199–212June29,2017ª2017ElsevierInc.http://dx.doi.org/10.1016/j.cell.2017.06.011ArticleType2DiabetesVariantsDisruptFunctionofSLC16A11throughTwoDistinctMechanismsVictorRusu,1,2,18,19EitanHoch,2,3,18JosepM.Mercader,2,4,5DanielleE.Tenen,6,7MelissaGymrek,2,8,20ChristinaR.Hartigan,6MichaelDeRan,6MarcinvonGrotthuss,2PierreFontanillas,2,21AlexandraSpooner,2GaelenGuzman,6AmyA.Deik,6KerryA.Pierce,6CourtneyDennis,6ClaryB.Clish,3,6StevenA.Carr,6BridgetK.Wagner,6MonicaSchenone,6MaggieC.Y.Ng,9BrianH.Chen,10MEDIAConsortium,SIGMAT2DConsortium,FedericoCenteno-Cruz,11CarlosZerrweck,12LorenaOrozco,11DavidM.Altshuler,2,13,14,15,16,22StuartL.Schreiber,6JoseC.Florez,2,3,4,15,*SuzanneB.R.Jacobs,2,3,4andEricS.Lander6,16,17,23,*1PrograminBiologicalandBiomedicalSciences,HarvardMedicalSchool,Boston,MA02115,USA2PrograminMedicalandPopulationGenetics,BroadInstituteofHarvardandMIT,Cambridge,MA02142,USA3MetabolismProgram,BroadInstituteofHarvardandMIT,Cambridge,MA02142,USA4DiabetesUnitandCenterforGenomicMedicine,MassachusettsGeneralHospital,Boston,MA02114,USA5BarcelonaSupercomputingCenter(BSC),JointBSC-CRG-IRBResearchPrograminComputationalBiology,08034Barcelona,Spain6BroadInstituteofHarvardandMIT,Cambridge,MA02142,USA7DivisionofEndocrinology,BethIsraelDeaconessMedicalCenter,Boston,MA02...
