Dissecting Cis Regulation of Gene Expression in Human Metabolic Tissues 英文参考文献.docVIP

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Dissecting Cis Regulation of Gene Expression in Human Metabolic Tissues 英文参考文献.doc

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Dissecting Cis Regulation of Gene Expression in Human Metabolic Tissues 英文参考文献

DissectingCisRegulationofGeneExpressioninHuman MetabolicTissues RaduDobrin1*¤,DanielleM.Greenawalt2,GuanghuiHu ,DanielM.Kemp1,LeeM.Kaplan3,EricE.Schadt , 1 4 ValurEmilsson5 1Merck Research Laboratories, Rahway, New Jersey, United States of America, 2Merck Research Laboratories, Boston, Massachusetts, United States of America, 3Massachusetts General Hospital, Boston, Massachusetts,United States of America, 4Pacific Biosciences, Menlo Park, California, United States of America, 5Icelandic HeartAssociation,Kopavogur,Iceland Abstract Complex diseases such as obesity and type II diabetes can result from a failure in multiple organ systems including the central nervous system and tissues involved in partitioning and disposal of nutrients. Studying the genetics of gene expressionintissuesthatareinvolvedinthedevelopmentofthesediseasescanprovideinsightsintohowthesetissues interactwithinthecontextofdisease.Expressionquantitativetraitlocus(eQTL)studiesidentifymRNAexpressionchanges linkedtoproximalgeneticsignals(ciseQTLs)thathavebeenshowntoaffectdisease.GiventhehighimpactofrecenteQTL studies,itisimportanttounderstandwhatrolesamplesizeandenvironmentplaysinidentificationofciseQTLs.Herewe showin agenotyped obesehuman populationthat thenumberof ciseQTLs obeyprecise scaling lawsas afunction of samplesizeinthreeprofiledtissues,i.e.omentaladipose,subcutaneousadiposeandliver.Also,weshowthatgenes(or transcripts)withciseQTLassociationsdetectedinasmallpopulationaredetectedatapproximately90%rateinthelargest populationavailableforourstudy,indicatingthatgeneswithstrongcisactingregulatoryelementscanbeidentifiedwith relativelyhighconfidenceinsmallerpopulations.However,byincreasingthesamplesizeweallowforbetterdetectionof weakerandmoredistantlylocatedcis-regulatoryelements.Yet,wedeterminedthatthenumberoftissuespecificciseQTLs saturatesinamodestlysizedcohortwhilethenumberofciseQTLscommontoalltissuesfailstoreachamaximumvalue. Understandingthepowerlawsthatgovernthenumberandspecificityofe