Heritability and Tissue Specificity of Expression Quantitative Trait Loci 英文参考文献.docVIP

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Heritability and Tissue Specificity of Expression Quantitative Trait Loci 英文参考文献.doc

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Heritability and Tissue Specificity of Expression Quantitative Trait Loci 英文参考文献

HeritabilityandTissueSpecificity ofExpressionQuantitativeTraitLoci Enrico Petretto1*,Jonathan Mangion1,Nicholas J.Dickens1,Stuart A.Cook1,Mande K.Kumaran1,Han Lu1, Judith Fischer2,Henrike Maatz2,Vladimir Kren3,4,Michal Pravenec3,4,Norbert Hubner2,Timothy J.Aitman1 1MedicalResearchCouncilClinicalSciencesCentre,FacultyofMedicine,ImperialCollege,London,UnitedKingdom,2Max-Delbru¨ck-CenterforMolecularMedicine,Berlin- Buch,Germany,3InstituteofPhysiology,CzechAcademyofSciencesandCentreforAppliedGenomics,Prague,CzechRepublic,4InstituteofBiologyandMedicalGenetics, CharlesUniversity,Prague,CzechRepublic Variationin geneexpression is heritable and hasbeen mapped to the genomein humansand model organisms as expression quantitative trait loci (eQTLs). We applied integrated genome-wide expression profiling and linkage analysistotheregulationofgeneexpressioninfat,kidney,adrenal,andhearttissuesusingtheBXH/HXBpanelofrat recombinantinbredstrains.Here,wereporttheinfluenceofheritabilityandalleliceffectofthequantitativetraitlocus on detection of cis- and trans-acting eQTLs and discuss how these factors operate in a tissue-specific context. We identifiedseveralhundredmajoreQTLsineachtissueandfoundthatcis-actingeQTLsarehighlyheritableandeasier todetectthantrans-eQTLs.Theproportionofheritableexpressiontraitswassimilarinalltissues;however,heritability alonewasnotareliablepredictorofwhetheraneQTLwillbedetected.Weempiricallyshowhowtheuseofheritability as a filter reduces the ability to discover trans-eQTLs, particularly for eQTLs with small effects. Only 3% of cis- and trans-eQTLsexhibitedlargealleliceffects,explainingmorethan40%ofthephenotypicvariance,suggestiveofahighly polygenic control ofgene expression. Powercalculations indicated that,across tissues, minor differences in genetic effects are expected to have a significant impact on detection of trans-eQTLs. Trans-eQTLs generally show smaller effectsthancis-eQTLsandhaveahigherfalsediscoveryrate,particularlyinmoreheterogeneoustissu