are medical and nonmedical uses of large-scale genomic markers conflating genetics and 'race'

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1、PERSPECTIVEAremedicalandnonmedicalusesoflarge-scalegenomicmarkersconflatinggeneticsand‘race’?CharlesNRotimi“…witheachbirthandeachdeathwealterthegeneticTheinternationalHapMapprojectexplorespatternsofDNAattributesofhumanpopulationsanddrawingalinearoundansequencevariationinthe

2、humangenome4,5.SuccessfulcompletionofephemeralentitylikeahumanraceisanexerciseinfutilityandtheHapMapprojectwillfurnishscientistswithpowerfulnewtoolsforidiocy.”—PatShipman,TheEvolutionofRacismidentifyinggeneticvariantsthatcontributetocommondiseasesandtodifferentialdrugrespon

3、seandfordevelopingnewdiagnosticWenowhavethetoolstodescribethepatternofgeneticvariation1,2tools4,5,29,30.TheHapMapprojectispredicatedonthecommondis-http://www.nature.com/naturegeneticsacrossthewholegenomeanditsrelationshiptothehistoryofhumanease–commonvariant(CDCV)hypothesis

4、,whichassumesthatcom-originsandthedifferentialdistributionofdiseasesacrosspopulationsplexdiseasesareinfluencedbygeneticvariants(single-nucleotideandgeography1–5.Wecanbegintodissectcommoncomplexdiseases1–5polymorphisms,SNPs)thatarerelativelycommoninhumanpopula-anddevisenewth

5、erapeuticstrategiestoreduceadversedrugreactions,ations30.Ifthishypothesisholdstrue,theHapMapprojecthasthekeypublichealthproblemrankingbetweenthefourthandsixthleadingpotentialtoadvancethefieldofgeneticepidemiologybyfacilitatingcauseofdeathintheUS6–8.Atthesociallevel,thenewge

6、nomictoolsassociationstudiesofcandidategenes,chromosomeregionsorthecanhelpustobetterappreciatethefluidityofsocialidentity,includingwholegenomewithoutknowingthefunctionofputativevariants4,5.‘race’,‘ethnicity’andthemorecomplexnotionofancestry9–13.Associationstudiesoffergreate

7、rstatisticalpowerthanlinkagestud-Challengessurroundingthedesignoflarge-scalegenotypingprojectsiesinexaminingthegeneticbasisofcomplexdiseaseswhentherisksuchastheinternationalHapMapinitiativeandtheirfutureapplica-variantiscommoninthepopulation29,31.TheHapMapprojectwilltionsil

8、lustratethecomplexitiesandambiguitiesassociatedwiththeusehelpdevelopanefficientand