Applied Statistical Genetics with R-1Genetic Association Studies

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1、1GeneticAssociationStudiesRecenttechnologicaladvancementsallowingforlarge-scalesequencingeortspresentanexcitingopportunitytouncoverthegeneticunderpinningsofcom-plexdiseases.Inanattempttocharacterizethesegeneticcontributorstodis-ease,investigatorshav

2、eembarkedinmultitudeonwhatarecommonlyreferredtoaspopulation-basedgeneticassociationstudies.Thesestudiesgenerallyaimtorelategeneticsequenceinformationderivedfromunrelatedindividualstoameasureofdiseaseprogressionordiseasestatus.Theeldofgenomicsspansaw

3、idearrayofresearchareasthatinvolvethemanystagesofprocessingfromgeneticsequenceinformationtoproteinproductsandultimatelytheexpres-sionofatrait.Thebreadthofgenomicinvestigationsalsoincludesstudiesofmultipleorganisms,rangingfrombacteriatovirusestoparasi

4、testohu-mans.Inthischapter,twosettingsaredescribedinwhichpopulation-basedgeneticassociationstudieshavemarkedpotentialforuncoveringdiseaseetiol-ogywhileelucidatingnewapproachesfortargeted,individualizedtherapeuticinterventions:(1)complexdiseaseassocia

5、tionstudiesinhumans;and(2)stud-iesinvolvingtheHumanImmunodeciencyVirus(HIV).Inbothsettings,interestliesincharacterizingassociationsbetweenmul-tiplegeneticpolymorphismsandameasuredtrait.Inaddition,thesesettingssharetheessentialneedtoaccountappropriat

6、elyforpatient-levelcovariatesaspotentialconfoundersormodiersofdiseaseprogressiontomakeclinicallymeaningfulconclusions.Whilethesetwosettingsarenotcomprehensive,to-gethertheyprovidealaunchingpointfordiscussionofquantitativemethodsthataddressthechallen

7、gesinherentinmanygeneticinvestigations.Thischap-terbeginsbydescribingtypesofpopulation-basedstudies,whichrepresentoneclassofinvestigationswithinthelargereldofgenomicsresearch.Alsodis-cussedarethefundamentalfeaturesofdataarisingfromtheseinvestigation

8、saswellastheanalyticalchallengesinherentinthisendeavor.A.S.Foulkes,AppliedStatisticalGeneticswithR:ForPopulation-basedAssociation1Studies,UseR,DOI:10.1007/978-0-387-89554-31,cSpringerScience+BusinessMediaLLC200921GeneticAssociationStudies1.1Overviewo