A Genome-Wide Association Study of Red Blood Cell Traits Using the Electronic Medical Record 英文参考文献.docVIP

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A Genome-Wide Association Study of Red Blood Cell Traits Using the Electronic Medical Record 英文参考文献.doc

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A Genome-Wide Association Study of Red Blood Cell Traits Using the Electronic Medical Record 英文参考文献

AGenome-WideAssociationStudyofRedBloodCell TraitsUsingtheElectronicMedicalRecord IftikharJ.Kullo1*,KeyueDing1,HayanJouni1,CarinY.Smith2,ChristopherG.Chute2 1Division of Cardiovascular Diseases, Mayo Clinic, Rochester, Minnesota, United States of America, 2Biomedical Statistics and Informatics, Mayo Clinic, Rochester, Minnesota,UnitedStatesofAmerica Abstract Background: The Electronic Medical Record (EMR) is a potential source for high throughput phenotyping to conduct genome-wideassociationstudies(GWAS),includingthoseofmedicallyrelevantquantitativetraits.Wedescribeuseofthe MayoClinicEMRtoconductaGWASofredbloodcell(RBC)traitsinacohortofpatientswithperipheralarterialdisease (PAD)andcontrolswithoutPAD. Methodology and Principal Findings: Results for hemoglobin level, hematocrit, RBC count, mean corpuscular volume, mean corpuscular hemoglobin, and mean corpuscular hemoglobin concentration were extracted from the EMR from January 1994 to September 2009. Out of 35,159 RBC trait values in 3,411 patients, we excluded 12,864 values in 1,165 patientsthathadbeenmeasuredduringhospitalizationorinthesettingofhematologicaldisease,malignancy,oruseof drugsthataffectRBCtraits,leavingafinalgenotypedsampleof3,012,80%ofwhomhad$2measurements.Themedianof eachRBCtraitwasusedinthegeneticanalyses,whichwereconductedusinganadditivemodelthatadjustedforage,sex, and PAD status. We identified four genomic loci that were associated (P,561028) with one or more of the RBC traits (HBLS1/MYB on 6q23.3, TMPRSS6 on 22q12.3, HFE on 6p22.1, and SLC17A1 on 6p22.2). Three of these loci (HBLS1/MYB, TMPRSS6,andHFE)hadbeenidentifiedinrecentGWASandtheallelefrequencies,effectsizes,andthedirectionsofeffects ofthereplicatedSNPsweresimilartothepriorstudies. Conclusions:OurresultsdemonstratefeasibilityofusingtheEMRtoconducthighthroughputgenomicstudiesofmedically relevantquantitativetraits. Citation: Kullo IJ, Ding K, Jouni H, Smith CY, Chute CG (2010) A Genome-Wide Association Study of Red Blood Cell Traits Using t