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Articles

What Are Our AIMs? Interdisciplinary Perspectives on the Use of Ancestry Estimation in Disease Research

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Pages 87-97 | Received 09 Nov 2011, Accepted 24 Apr 2012, Published online: 05 Nov 2012

REFERENCES

  • Aldrich , M. C. 2007 . Genetic admixture in a lung cancer study of African Americans and Latinos , Berkeley : University of California . PhD dissertation
  • Aldrich , M. C. , Selvin , S. Hansen , H. M. 2009 . CYP1A1/2 haplotypes and lung cancer and assessment of confounding by population stratification . Cancer Research , 69 ( 6 ) : 2340 – 2348 .
  • American Society of Human Genetics . 2008 . Ancestry testing statement Available at: http://www.ashg.org/pdf/ASHGAncestryTestingStatement_Final.pdf
  • Amsterdamska , O. 2005 . Demarcating epidemiology . Science, Technology, & Human Values , 30 ( 1 ) : 17 – 51 .
  • Bamshad , M. J. , Wooding , S. , Watkins , W. S. , Ostler , C. T. , Batzer , M. A. and Jorde , L. B. 2003 . Human population genetic structure and inference of group membership . American Journal of Human Genetics , 72 ( 3 ) : 578 – 589 .
  • Barnholtz-Sloan , J. S. , McEvoy , B. , Shriver , M. D. and Rebbeck , T. R. 2008 . Ancestry estimation and correction for population stratification in molecular epidemiologic association studies . Cancer Epidemiology, Biomarkers & Prevention , 17 ( 3 ) : 471 – 477 .
  • Bolnick , D. A. , Fullwiley , D. Duster , T. 2007 . Genetics. The science and business of genetic ancestry testing . Science , 318 ( 5849 ) : 399 – 400 .
  • Bolnick , D. A. 2008 . “ Individual ancestry inference and the reification of race as a biological phenomenon ” . In Revisiting race in a genomic age , Edited by: Koenig , B. , Soo-Jin Lee , S. and Richardson , S. 70 – 85 . New Brunswick , NJ : Rutgers University Press .
  • Bonham , V. L. , Sellers , S. L. Gallagher , T. H. 2009 . Physicians’ attitudes toward race, genetics, and clinical medicine . Genetics in Medicine , 11 ( 4 ) : 279 – 286 .
  • Bonham , V. L. , Warshauer-Baker , E. and Collins , F. S. 2005 . Race and ethnicity in the genome era: The complexity of the constructs . American Psychologist , 60 ( 1 ) : 9 – 15 .
  • Bowker , G. C. and Star , S. L. 1999 . Sorting things out: Classification and its consequences , Cambridge, MA : MIT Press .
  • Briscoe , D. , Stephens , J. C. and O’Brien , S. J. 1994 . Linkage disequilibrium in admixed populations: Applications in gene mapping . Journal of Heredity , 85 ( 1 ) : 59 – 63 .
  • Burke , W. , Edwards , K. , Goering , S. , Holland , S. and Trinidad , S. 2011 . Making good on the promise of genetics: Justice in translation. , New York , NY : Oxford University Press .
  • Burke , W. and Press , N. 2011 . “ What outcomes? Whose benefits? ” . In Making good on the promise of genetics: Justice in translation. , Edited by: Burke , W. , Edwards , K. , Goering , S. , Holland , S. and Trinidad , S. 162 – 176 . New York , NY : Oxford University Press .
  • Burke , W. , Kuszler , P. , Starks , H. , Holland , S. and Press , N. 2008 . Translational genomics: Seeking a shared vision of benefit . American Journal of Bioethics , 8 ( 3 ) : 54 – 56 . discussion W1–W3
  • Caulfield , T. , Fullerton , S. M. Ali-Khan , S. E. 2009 . Race and ancestry in biomedical research: Exploring the challenges . Genome Medicine , 1 ( 1 ) : 8
  • Chanock , S. J. , Manolio , T. Boehnke , M. 2007 . Replicating genotype–phenotype associations . Nature , 447 ( 7145 ) : 655 – 660 .
  • Chubin , D. E. 1976 . The conceptualization of scientific specialties . Sociological Quarterly , 17 ( autumn ) : 448 – 476 .
  • Collins-Schramm , H. E. , Kittles , R. A. Operatio , D. J. 2002 . Markers that discriminate between European and African ancestry show limited variation within Africa . Human Genetics , 111 ( 6 ) : 566 – 569 .
  • Darvasi , A. and Shifman , S. 2005 . The beauty of admixture . Nature Genetics , 37 ( 2 ) : 118 – 119 .
  • Davis , D. S. 2007 . The changing face of “misidentified paternity.” . Journal of Medicine and Philosophy , 32 ( 4 ) : 359 – 373 .
  • Dean , M. , Stephens , J. C. Winkler , C. 1994 . Polymorphic admixture typing in human ethnic populations . American Journal of Human Genetics , 55 ( 4 ) : 788 – 808 .
  • Duster , T. 2006 . Deep roots and tangled branches . Chronicle of Higher Education , 52 ( 22 ) : B13
  • Duster , T. 2005 . Medicine. Race and reification in science . Science , 307 ( 5712 ) : 1050 – 1051 .
  • Egalite , N. , Ozdemir , V. and Godard , B. 2007 . Pharmacogenomics research involving racial classification: Qualitative research findings on researchers’ views, perceptions and attitudes towards socioethical responsibilities . Pharmacogenomics , 8 ( 9 ) : 1115 – 1126 .
  • Frank , D. , Gallagher , T. H. Sellers , S. L. 2010 . Primary care physicians’ attitudes regarding race-based therapies . Journal of General Internal Medicine , 25 ( 5 ) : 384 – 389 .
  • Fujimura , J. H. , Duster , T. and Rajagopalan , R. 2008 . Race, genetics, and disease: Questions of evidence, matters of consequence . Social Studies of Science , 38 ( 5 ) : 643 – 656 .
  • Fujimura , J. H. and Rajagopalan , R. 2011 . Different differences: The use of “genetic ancestry” versus race in biomedical human genetic research . Social Studies of Science , 41 ( 1 ) : 5 – 30 .
  • Fujimura , J. H. , Rajagopalan , R. , Ossorio , P. N. and Doksum , K. A. 2010 . “ Race and ancestry: Operationalizing populations in human genetic variation studies ” . In What's the use of race?: Modern governance and the biology of difference , Edited by: Whitmarsh , I. and Jones , D. S. 170 – 183 . Cambridge, MA : MIT Press .
  • Fullerton , S. M. , Yu , J. H. , Crouch , J. , Fryer-Edwards , K. and Burke , W. 2010 . Population description and its role in the interpretation of genetic association . Human Genetics , 127 ( 5 ) : 563 – 72 .
  • Fullwiley , D. 2008 . The biologistical construction of race: “Admixture” technology and the new genetic medicine . Social Studies of Science , 38 ( 5 ) : 695 – 735 .
  • Giri , V. N. , Egleston , B. Ruth , K. 2009 . Race, genetic West African ancestry, and prostate cancer prediction by prostatespecific antigen in prospectively screened high-risk men . Cancer Prevention Research , 2 ( 3 ) : 244 – 250 .
  • Glaser , B. G. 1965 . The constant comparative method of qualitative analysis . Social Problems , 12 ( 4 ) : 436 – 445 .
  • Halder , I. , Shriver , M. , Thomas , M. , Fernandez , J. R. and Frudakis , T. 2008 . A panel of ancestry informative markers for estimating individual biogeographical ancestry and admixture from four continents: Utility and applications . Human Mutation , 29 ( 5 ) : 648 – 658 .
  • Hoggart , C. J. , Parra , E. J. Shriver , M. D. 2003 . Control of confounding of genetic associations in stratified populations . American Journal of Human Genetics , 72 ( 6 ) : 1492 – 1504 .
  • Jackson , F. L. 2008 . Ancestral links of Chesapeake Bay region African Americans to specific Bight of Bonny (West Africa) microethnic groups and increased frequency of aggressive breast cancer in both regions . American Journal of Human Biology , 20 ( 2 ) : 165 – 173 .
  • Kim , H. , Hysi , P. G. Pawlikowska , L. 2008 . Population stratification in a case-control study of brain arteriovenous malformation in Latinos . Neuroepidemiology , 31 ( 4 ) : 224 – 228 .
  • Kittles , R. A. , Chen , W. Panguluri , R. K. 2002 . CYP3A4-V and prostate cancer in African Americans: Causal or confounding association because of population stratification? . Human Genetics , 110 ( 6 ) : 553 – 560 .
  • Klein , J. T. 1990 . Interdisciplinarity: History, theory, and practice , Detroit , MI : Wayne State University Press .
  • Klein , Julie Thompson . 1996 . Crossing boundaries: Knowledge, disciplinarities, and interdisciplinarities , Charlottesville : University Press of Virginia .
  • Knorr-Cetina , K. 1999 . Epistemic cultures: How the sciences make knowledge , Cambridge , MA : Harvard University Press .
  • Lee , C. 2009 . “Race” and “ethnicity” in biomedical research: How do scientists construct and explain differences in health? . Social Science and Medicine , 68 : 1183 – 1190 .
  • Lee , S. S. , Bolnick , D. A. , Duster , T. , Ossorio , P. and Tallbear , K. 2009 . Genetics. The illusive gold standard in genetic ancestry testing . Science , 325 ( 5936 ) : 38 – 39 .
  • Lonjou , C. , Thomas , L. Borot , N. 2006 . A marker for Stevens–Johnson syndrome: Ethnicity matters . Pharmacogenomics Journal , 6 ( 4 ) : 265 – 8 .
  • Ma , J. and Amos , C. I. 2010 . Theoretical formulation of principal components analysis to detect and correct for population stratification . PLoS ONE , 5 ( 9 ) : e12510, 1 – 14 .
  • Maienschein , J. , Sunderland , M. , Ankeny , R. A. and Robert , J. S. 2008 . The ethos and ethics of translational research . American Journal of Bioethics , 8 ( 3 ) : 43 – 51 .
  • McCarthy , M. I. , Abecasis , G. R. Cardon , L. R. 2008 . Genome-wide association studies for complex traits: consensus, uncertainty and challenges . Nature Reviews Genetics , 9 ( 5 ) : 356 – 369 .
  • McKeigue , P. M. 2005 . Prospects for admixture mapping of complex traits . American Journal of Human Genetics , 76 ( 1 ) : 1 – 7 .
  • Montoya , M. J. 2006 . Genetic admixture: Diabetes and Mexicano/a ethnicity: How inequity gets into and out of genetic science. Chicano/Latino Studies Program, University of California–Irvine. .
  • Montoya , M. J. 2007 . Bioethnic conscription: Genes, race, and Mexicana/o ethnicity in diabetes research . Cultural Anthropology , 22 ( 1 ) : 94 – 128 .
  • Nassir , R. , Kosoy , R. Tian , C. 2009 . An ancestry informative marker set for determining continental origin: Validation and extension using human genome diversity panels . BMC Genetics , 10 : 39
  • Nelson , A. 2008 . Bio science: Genetic genealogy testing and the pursuit of African ancestry . Social Studies Science , 38 ( 5 ) : 759 – 783 .
  • Oudshoorn , N. and Pinch , T. J. 2003 . How users matter: The co-construction of users and technologies , Cambridge, MA : MIT Press .
  • Payne , P. W. Jr . 2008 . For Asians only? The perils of ancestry-based drug prescribing . Journal of Law, Medicine & Ethics , 36 ( 3 ) : 585 – 588 .
  • Price , A. L. , Patterson , N. J. , Plenge , R. M. , Weinblatt , M. E. , Shadick , N. A. and Reich , D. 2006 . Principal components analysis corrects for stratification in genome-wide association studies . Nature Genetics , 38 ( 8 ) : 904 – 909 .
  • Price , A. L. , Zaitlen , N. A. , Reich , D. and Patterson , N. 2010 . New approaches to population stratification in genome-wide association studies . Nature Reviews Genetics , 11 ( 7 ) : 459 – 463 .
  • Pritchard , J. K. and Rosenberg , N. A. 1999 . Use of unlinked genetic markers to detect population stratification in association studies . American Journal of Human Genetics , 65 ( 1 ) : 220 – 228 .
  • Pritchard , J. K. , Stephens , M. , Rosenberg , N. A. and Donnelly , P. 2000 . Association mapping in structured populations . American Journal of Human Genetics , 67 ( 1 ) : 170 – 181 .
  • Race Ethnicity and Genetics Working Group . 2005 . The use of racial, ethnic, and ancestral categories in human genetics research . American Journal of Human Genetics , 77 ( 4 ) : 519 – 532 .
  • Rebbeck , T. R. and Sankar , P. 2005 . Ethnicity, ancestry, and race in molecular epidemiologic research . Cancer Epidemiology, Biomarkers & Prevention , 14 ( 11 Pt 1 ) : 2467 – 2471 .
  • Rosenberg , N. A. , Pritchard , J. K. Weber , J. L. 2002 . Genetic structure of human populations . Science , 298 ( 5602 ) : 2381 – 2385 .
  • Royal , C. D. , Novembre , J. Fullerton , S. M. 2010 . Inferring genetic ancestry: Opportunities, challenges, and implications . American Journal of Human Genetics , 86 ( 5 ) : 661 – 673 .
  • Sankar , P. 2006 . Hasty generalizations . New Genetics and Society , 25 ( 3 ) : 249 – 264 .
  • Sankar , P. 2008 . “ Moving beyond the two race mantra ” . In Revisiting race in a genomic age , Edited by: Koenig , B. A. , Soo-Jin , S. , Lee and Richardson , S. S. 271 – 284 . New Brunswick , NJ : Rutgers University Press .
  • Seldin , M. F. 2007 . Admixture mapping as a tool in gene discovery . Current Opinion in Genetics and Development , 17 ( 3 ) : 177 – 181 .
  • Shields , A. E. , Fortun , M. Hammonds , E. M. 2005 . The use of race variables in genetic studies of complex traits and the goal of reducing health disparities: A transdisciplinary perspective . American Psychologist , 60 ( 1 ) : 77 – 103 .
  • Shriver , M. D. and Kittles , R. A. 2004 . Genetic ancestry and the search for personalized genetic histories . Nature Reviews Genetics , 5 ( 8 ) : 611 – 618 .
  • Shriver , M. D. , Parra , E. J. Dios , S. 2003 . Skin pigmentation, biogeographical ancestry and admixture mapping . Human Genetics , 112 ( 4 ) : 387
  • Shriver , M. D. , Smith , M. W. Jin , L. 1997 . Ethnic-affiliation estimation by use of population-specific DNA markers . American Journal of Human Genetics , 60 ( 4 ) : 957 – 964 .
  • Smith , M. W. and O’Brien , S. J. 2005 . Mapping by admixture linkage disequilibrium: Advances, limitations and guidelines . Nature Reviews Genetics , 6 ( 8 ) : 623 – 632 .
  • Tayo , B. O. , Teil , M. Tong , L. 2011 . Genetic background of patients from a university medical center in Manhattan: Implications for personalized medicine . PLoS ONE , 6 ( 5 ) : e19166
  • Tsai , H. J. , Choudhry , S. , Naqvi , M. , Rodriguez-Cintron , W. , Burchard , E. G. and Ziv , E. 2005 . Comparison of three methods to estimate genetic ancestry and control for stratification in genetic association studies among admixed populations . Human Genetics , 118 ( 3–4 ) : 424 – 433 .
  • Tutton , R. , Smart , A. , Martin , P. A. , Ashcroft , R. and Ellison , G. T. 2008 . Genotyping the future: Scientists’ expectations about race/ethnicity after BiDil . Journal of Law, Medicine & Ethics , 36 ( 3 ) : 464 – 470 .
  • Wagner , J. K. 2010 . Interpreting the implications of DNA ancestry tests . Perspectives in Biology and Medicine , 53 ( 2 ) : 231 – 248 .
  • Wang , H. , Haiman , C. A. Kolonel , L. N. 2010 . Self-reported ethnicity, genetic structure andthe impact of population stratification in a multiethnic study . Human Genetics , 128 ( 2 ) : 165 – 177 .
  • Weiss , K. M. and Long , J. C. 2009 . Non-Darwinian estimation: My ancestors, my genes’ ancestors . Genome Research , 19 ( 5 ) : 703 – 710 .
  • Worsham , M. J. , Divine , G. and Kittles , R. A. 2011 . Race as a social construct in head and neck cancer outcomes . Otolaryngology—Head and Neck Surgery , 144 ( 3 ) : 381 – 389 .
  • Yang , B. Z. , Zhao , H. , Kranzler , H. R. and Gelernter , J. 2005 . Practical population group assignment with selected informative markers: Characteristics and properties of Bayesian clustering via STRUCTURE . Genetic Epidemiology , 28 ( 4 ) : 302 – 312 .
  • Yang , J. J. , Cheng , C. Devidas , M. 2011 . Ancestry and pharmacogenomics of relapse in acute lymphoblastic leukemia . Nature Genetics , 43 ( 3 ) : 237 – 241 .
  • Yang , N. , Li , H. Criswell , L. A. 2005 . Examination of ancestry and ethnic affiliation using highly informative diallelic DNA markers: Application to diverse and admixed populations and implications for clinical epidemiology and forensic medicine . Human Genetics , 118 ( 3–4 ) : 382 – 392 .
  • Ziv , E. and Burchard , E. G. 2003 . Human population structure and genetic association studies . Pharmacogenomics , 4 ( 4 ) : 431 – 441 .

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