Inferring Genetic Ancestry: Opportunities, Challenges, and Implications

American Journal of Human Genetics

Volumn 86, Issue 5, 2010, Pages 661-673

  Royal, Charmaine D ^a   Novembre, John ^b   Fullerton, Stephanie M ^c   Goldstein, David B ^a   Long, Jeffrey C ^d   Bamshad, Michael J ^c   Clark, Andrew G ^e  

^a DUKE UNIVERSITY   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^d UNIVERSITY OF NEW MEXICO   (United States)

^e Department of Molecular Biology and Genetics   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

MITOCHONDRIAL DNA;

ARTICLE; ETHNICITY; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC DATABASE; GENETIC MARKER; GENETIC VARIABILITY; GENOMICS; HUMAN; HUMAN GENETICS; MIGRATION; POPULATION GENETICS; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; VALIDITY; Y CHROMOSOME;

EID: 77951967698     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ajhg.2010.03.011     Document Type: Note

References (112)

1. Evans J.P., and Green R.C. Genet. Med. 11 (2009) 568-569
2. McGuire A.L., Diaz C.M., Wang T., and Hilsenbeck S.G. Am. J. Bioeth. 9 (2009) 3-10
3. Bolnick D.A., Fullwiley D., Duster T., Cooper R.S., Fujimura J.H., Kahn J., Kaufman J.S., Marks J., Morning A., Nelson A., et al. Science 318 (2007) 399-400
4. Greely H.T. Genetic genealogy: Genetics meets the marketplace. In: Koenig B.A., Lee S.S., and Richardson S.S. (Eds). Revisiting Race in a Genomic Age (2008), Rutgers University Press, New Brunswick 215-234
5. Nelson A. Soc. Stud. Sci. 38 (2008) 759-783
6. Lee S.S., Bolnick D.A., Duster T., Ossorio P., and TallBear K. Science 325 (2009) 38-39
7. Hudson K., Javitt G., Burke W., and Byers P. Obstet. Gynecol. 110 (2007) 1392-1395
8. ASHG. (2008). (http://www.ashg.org/pdf/ASHGAncestryTestingStatement_FINAL.pdf)
9. Chakravarti A. Nature 457 (2009) 380-381
10. Weiss K.M., and Long J.C. Genome Res. 19 (2009) 703-710
11. Keita S.O., Kittles R.A., Royal C.D., Bonney G.E., Furbert-Harris P., Dunston G.M., and Rotimi C.N. Nat. Genet. 36 (2004) S17-S20
12. Caspari R. Am. J. Phys. Anthropol. 139 (2009) 5-15
13. Shriver M.D., Parra E.J., Dios S., Bonilla C., Norton H., Jovel C., Pfaff C., Jones C., Massac A., Cameron N., et al. Hum. Genet. 112 (2003) 387-399
14. Bamshad M., Wooding S., Salisbury B.A., and Stephens J.C. Nat. Rev. Genet. 5 (2004) 598-609
15. Baylis F. Developing World Bioethics 3 (2003) 142-150
16. TallBear K. Wicazo Sa Review 18 (2003) 88-93 and 98-99
17. Sweet F.W. Legal History of the Color Line: Rise and Triumph of the One-drop Rule (2005), Backintyme, Palm Coast, FL pp. 3-4
18. Haney Lopez I. White by Law: The Legal Construction of Race (2006), New York University Press, New York
19. Wolinsky H. EMBO Rep. 7 (2006) 1072-1074
20. Shriver M.D., and Kittles R.A. Nat. Rev. Genet. 5 (2004) 611-618
21. Akey J.M., Eberle M.A., Rieder M.J., Carlson C.S., Shriver M.D., Nickerson D.A., and Kruglyak L. PLoS Biol. 2 (2004) e286
22. Sabeti P.C., Schaffner S.F., Fry B., Lohmueller J., Varilly P., Shamovsky O., Palma A., Mikkelsen T.S., Altshuler D., and Lander E.S. Science 312 (2006) 1614-1620
23. Nielsen R., Hubisz M.J., Hellmann I., Torgerson D., Andres A.M., Albrechtsen A., Gutenkunst R., Adams M.D., Cargill M., Boyko A., et al. Genome Res. 19 (2009) 838-849
24. Reich D., Patterson N., De Jager P.L., McDonald G.J., Waliszewska A., Tandon A., Lincoln R.R., DeLoa C., Fruhan S.A., Cabre P., et al. Nat. Genet. 37 (2005) 1113-1118
25. Enoch M.A., Shen P.H., Xu K., Hodgkinson C., and Goldman D. J. Psychopharmacol. 20 (2006) 19-26
26. Barnholtz-Sloan J.S., McEvoy B., Shriver M.D., and Rebbeck T.R. Cancer Epidemiol. Biomarkers Prev. 17 (2008) 471-477
27. Smith M.W., and O'Brien S.J. Nat. Rev. Genet. 6 (2005) 623-632
28. Seldin M.F. Curr. Opin. Genet. Dev. 17 (2007) 177-181
29. Basu A., Tang H., Arnett D., Gu C.C., Mosley T., Kardia S., Luke A., Tayo B., Cooper R., Zhu X., et al. Obesity (Silver Spring) 17 (2009) 1226-1231
30. Jobling M., Hurles M., and Tyler-Smith C. Human Evolutionary Genetics: Origins, Peoples & Diseases (2004), Garland, New York
31. Cavalli-Sforza L.L. Annu. Rev. Genomics Hum. Genet. 8 (2007) 1-15
32. Jorde L.B., Watkins W.S., Bamshad M.J., Dixon M.E., Ricker C.E., Seielstad M.T., and Batzer M.A. Am. J. Hum. Genet. 66 (2000) 979-988
33. Mesa N.R., Mondragon M.C., Soto I.D., Parra M.V., Duque C., Ortiz-Barrientos D., Garcia L.F., Velez I.D., Bravo M.L., Munera J.G., et al. Am. J. Hum. Genet. 67 (2000) 1277-1286
34. Jobling M.A., and Tyler-Smith C. Nat. Rev. Genet. 4 (2003) 598-612
35. Malhi R.S., Breece K.E., Shook B.A., Kaestle F.A., Chatters J.C., Hackenberger S., and Smith D.G. Hum. Biol. 76 (2004) 33-54
36. Fagundes N.J., Kanitz R., Eckert R., Valls A.C., Bogo M.R., Salzano F.M., Smith D.G., Silva Jr. W.A., Zago M.A., Ribeiro-dos-Santos A.K., et al. Am. J. Hum. Genet. 82 (2008) 583-592
37. Auton A., Bryc K., Boyko A.R., Lohmueller K.E., Novembre J., Reynolds A., Indap A., Wright M.H., Degenhardt J.D., Gutenkunst R.N., et al. Genome Res. 19 (2009) 795-803
38. Li J.Z., Absher D.M., Tang H., Southwick A.M., Casto A.M., Ramachandran S., Cann H.M., Barsh G.S., Feldman M., Cavalli-Sforza L.L., et al. Science 319 (2008) 1100-1104
39. Cann H.M., de Toma C., Cazes L., Legrand M.F., Morel V., Piouffre L., Bodmer J., Bodmer W.F., Bonne-Tamir B., Cambon-Thomsen A., et al. Science 296 (2002) 261-262
40. Jakobsson M., Scholz S.W., Scheet P., Gibbs J.R., VanLiere J.M., Fung H.C., Szpiech Z.A., Degnan J.H., Wang K., Guerreiro R., et al. Nature 451 (2008) 998-1003
41. Heath S.C., Gut I.G., Brennan P., McKay J.D., Bencko V., Fabianova E., Foretova L., Georges M., Janout V., Kabesch M., et al. Eur. J. Hum. Genet. 16 (2008) 1413-1429
42. Lao O., Lu T.T., Nothnagel M., Junge O., Freitag-Wolf S., Caliebe A., Balascakova M., Bertranpetit J., Bindoff L.A., Comas D., et al. Curr. Biol. 18 (2008) 1241-1248
43. Novembre J., Johnson T., Bryc K., Kutalik Z., Boyko A.R., Auton A., Indap A., King K.S., Bergmann S., Nelson M.R., et al. Nature 456 (2008) 98-101
44. Sabatti C., and Lange K. J. Am. Stat. Assoc. 103 (2008) 89-100
45. McEvoy B.P., Montgomery G.W., McRae A.F., Ripatti S., Perola M., Spector T.D., Cherkas L., Ahmadi K.R., Boomsma D., Willemsen G., et al. Genome Res. 19 (2009) 804-814
46. Tishkoff S.A., Reed F.A., Friedlaender F.R., Ehret C., Ranciaro A., Froment A., Hirbo J.B., Awomoyi A.A., Bodo J.M., Doumbo O., et al. Science 324 (2009) 1035-1044
47. Reich D., Thangaraj K., Patterson N., Price A.L., and Singh L. Nature 461 (2009) 489-494
48. Quintana-Murci L., Chaix R., Wells R.S., Behar D.M., Sayar H., Scozzari R., Rengo C., Al-Zahery N., Semino O., Santachiara-Benerecetti A.S., et al. Am. J. Hum. Genet. 74 (2004) 827-845
49. McElreavey K., and Quintana-Murci L. Ann. Hum. Biol. 32 (2005) 154-162
50. Clark A.G., Hubisz M.J., Bustamante C.D., Williamson S.H., and Nielsen R. Genome Res. 15 (2005) 1496-1502
51. Halder I., Shriver M., Thomas M., Fernandez J.R., and Frudakis T. Hum. Mutat. 29 (2008) 648-658
52. Zhu X., Luke A., Cooper R.S., Quertermous T., Hanis C., Mosley T., Gu C.C., Tang H., Rao D.C., Risch N., et al. Nat. Genet. 37 (2005) 177-181
53. Freedman M.L., Haiman C.A., Patterson N., McDonald G.J., Tandon A., Waliszewska A., Penney K., Steen R.G., Ardlie K., John E.M., et al. Proc. Natl. Acad. Sci. USA 103 (2006) 14068-14073
54. Nalls M.A., Wilson J.G., Patterson N.J., Tandon A., Zmuda J.M., Huntsman S., Garcia M., Hu D., Li R., Beamer B.A., et al. Am. J. Hum. Genet. 82 (2008) 81-87
55. Zerjal T., Xue Y., Bertorelle G., Wells R.S., Bao W., Zhu S., Qamar R., Ayub Q., Mohyuddin A., Fu S., et al. Am. J. Hum. Genet. 72 (2003) 717-721
56. Salas A., Carracedo A., Richards M., and Macaulay V. Am. J. Hum. Genet. 77 (2005) 676-680
57. Ely B., Wilson J.L., Jackson F., and Jackson B.A. BMC Biol. 4 (2006) 34
58. Pritchard J.K., Stephens M., and Donnelly P. Genetics 155 (2000) 945-959
59. Alexander D.H., Novembre J., and Lange K. Genome Res. 19 (2009) 1655-1664
60. Patterson N., Price A.L., and Reich D. PLoS Genet. 2 (2006) e190
61. Price A.L., Patterson N.J., Plenge R.M., Weinblatt M.E., Shadick N.A., and Reich D. Nat. Genet. 38 (2006) 904-909
62. Novembre J., and Stephens M. Nat. Genet. 40 (2008) 646-649
63. McVean G. PLoS Genet. 5 (2009) e1000686
64. Sarata, A.K. (2008). CRS Report for Congress: Genetic ancestry testing. (http://assets.opencrs.com/rpts/RS22830_20080312.pdf).
65. Bamshad M. JAMA 294 (2005) 937-946
66. Gravlee C.C., Non A.L., and Mulligan C.J. PLoS ONE 4 (2009) e6821
67. Lee C. Soc. Sci. Med. 68 (2009) 1183-1190
68. Via M., Ziv E., and Burchard E.G. Clin. Genet. 76 (2009) 225-235
69. Xu J., Kochanek K.D., and Tejada-Vera B. Natl. Vital Stat. Rep. 58 (2009) 1-51
70. Caulfield T., Fullerton S.M., Ali-Khan S.E., Arbour L., Burchard E.G., Cooper R.S., Hardy B.J., Harry S., Hyde-Lay R., Kahn J., et al. Genome Med. 1 (2009) 8
71. Cooper R.S., and Kaufman J.S. Hypertension 32 (1998) 813-816
72. Ramos E., and Rotimi C. BMC Med. Genomics 2 (2009) 29
73. Gravlee C.C. Am. J. Phys. Anthropol. 139 (2009) 47-57
74. Steinthorsdottir V., Thorleifsson G., Reynisdottir I., Benediktsson R., Jonsdottir T., Walters G.B., Styrkarsdottir U., Gretarsdottir S., Emilsson V., Ghosh S., et al. Nat. Genet. 39 (2007) 770-775
75. Freedman B.I., Hicks P.J., Bostrom M.A., Cunningham M.E., Liu Y., Divers J., Kopp J.B., Winkler C.A., Nelson G.W., Langefeld C.D., et al. Kidney Int. 75 (2009) 736-745
76. Kopp J.B., Smith M.W., Nelson G.W., Johnson R.C., Freedman B.I., Bowden D.W., Oleksyk T., McKenzie L.M., Kajiyama H., Ahuja T.S., et al. Nat. Genet. 40 (2008) 1175-1184
77. Robbins C., Torres J.B., Hooker S., Bonilla C., Hernandez W., Candreva A., Ahaghotu C., Kittles R., and Carpten J. Genome Res. 17 (2007) 1717-1722
78. Chung W.H., Hung S.I., Hong H.S., Hsih M.S., Yang L.C., Ho H.C., Wu J.Y., and Chen Y.T. Nature 428 (2004) 486
79. Ge D., Fellay J., Thompson A.J., Simon J.S., Shianna K.V., Urban T.J., Heinzen E.L., Qiu P., Bertelsen A.H., Muir A.J., et al. Nature 461 (2009) 399-401
80. U.S. Department of Health & Human Services. Surgeon General's Family Health History Initiative. (http://www.hhs.gov/familyhistory/).
81. Brodwin P. Anthropol. Q. 75 (2002) 323-330
82. Nordgren A., and Juengst E. N. Genet. Soc. 28 (2009) 157-172
83. Zoloth L. Developing World Bioethics 3 (2003) 128-132
84. Palsson G., and Helgason A. Developing World Bioethics 3 (2003) 159-169
85. Tutton R. New Genet. Soc. 23 (2004) 105-120
86. Duster T. Genewatch 22 (2009) 16-17
87. Elliott C., and Brodwin P. BMJ 325 (2002) 1469-1471
88. Palsson G. Med. Anthropol. 21 (2002) 337-367
89. Kaplan, E. (2003). Black Like I Thought I Was. In LA Weekly. (http://www.laweekly.com/2003-10-09/calendar/black-like-i-thought-i-was).
90. Winston C., and Kittles R.A. Inferring African Ancestry of African Americans. In: Turner T. (Ed). Biological Anthropology and Ethics (2005), SUNY Press, New York
91. Koerner, B. (2005). Blood Feud. Wired Magazine Online. (www.wired.com/wired/archive/13.09/seminoles.html>).
92. Custred G. Academic Questions 13 (2000) 12-30
93. Richards M., Macaulay V., Hickey E., Vega E., Sykes B., Guida V., Rengo C., Sellitto D., Cruciani F., Kivisild T., et al. Am. J. Hum. Genet. 67 (2000) 1251-1276
94. Thomas M.G., Parfitt T., Weiss D.A., Skorecki K., Wilson J.F., le Roux M., Bradman N., and Goldstein D.B. Am. J. Hum. Genet. 66 (2000) 674-686
95. Foster E.A., Jobling M.A., Taylor P.G., Donnelly P., de Knijff P., Mieremet R., Zerjal T., and Tyler-Smith C. Nature 396 (1998) 27-28
96. Moore, L., and Sherlock, E. (2009). Federal Privacy Regulation and the Financially Troubled DTC Genomics Company. Genomics Law Report. (http://www.genomicslawreport.com/index.php/2009/10/27/federal-privacy-regulation-and-the-financially-troubled-dtc-genomics-company/).
97. Holloway K. Lit. Med. 26 (2007) 269-276
98. Dalton R. Nature 430 (2004) 500-502
99. Malin B., Karp D., and Scheuermann R.H. J. Investig. Med. 58 (2010) 11-18
100. Bathe O.F., and McGuire A.L. Genet. Med. 11 (2009) 712-715
101. Rotimi C.N. Developing World Bioethics 3 (2003) 151-158
102. Harmon, A. (2006). Seeking Ancestry in DNA Ties Uncovered by Tests. New York Times, April 12, 2006, p A1.
103. TallBear K. J. Law Med. Ethics 35 (2007) 412-424
104. Watanabe, T. (2009). Called back to Africa by DNA. Los Angeles Times (http://articles.latimes.com/2009/feb/18/local/me-africa18).
105. Azoulay K.G. Developing World Bioethics 3 (2003) 119-126
106. Braun L. Int. J. Health Serv. 36 (2006) 557-573
107. Duster T. Patterns Prejudice 40 (2006) 427-441
108. Wade, N. (2003). Unusual use of DNA aided in serial killer search. New York Times, June 3, 2003. p. A28.
109. Cho M.K., and Sankar P. Nat. Genet. 36 (2004) S8-S12
110. Fullwiley D. Genewatch 21 (2008) 12-14
111. Anonymous. Nature 461 (2009) 697
112. Travis J. Science 326 (2009) 30-31