The use of race, ethnicity and ancestry in human genetic research

HUGO Journal

Volumn 5, Issue 1-4, 2011, Pages 47-63

  Ali Khan, Sarah E ^a   Krakowski, Tomasz ^a   Tahir, Rabia ^a   Daar, Abdallah S ^a,b,c  

^a UNIVERSITY HEALTH NETWORK   (Canada)

^b UNIVERSITY OF TORONTO   (Canada)

^c NONE   (Canada)

Author keywords

Ancestry; Ethnicity; Genetic ancestry inference; Genetic research; Race; Terminology

Indexed keywords

ARTICLE; CLUSTER ANALYSIS; ETHNIC DIFFERENCE; ETHNICITY; GENE FREQUENCY; GENETIC ANCESTRY; GENETIC ASSOCIATION; GENETIC DIFFERENCE; GENETIC IDENTIFICATION; GENETIC SCREENING; GENETIC VARIABILITY; GEOGRAPHIC DISTRIBUTION; HUMAN; HUMAN GENETICS; NOMENCLATURE; PHENOTYPIC VARIATION; POPULATION GENETICS; PRIORITY JOURNAL; RACE; RACE DIFFERENCE;

EID: 83555166175     PISSN: 18776558     EISSN: 18776566     Source Type: Journal    
DOI: 10.1007/s11568-011-9154-5     Document Type: Article

References (98)

1. Ali-Khan SE, Daar AS (2010) Admixture mapping: from paradigms of race and ethnicity, to population history. Hugo J.
2. American Academy of Pediatrics: Committee on Pediatric Research (2000) Race/ethnicity, gender, socioeconomic status-research exploring their effects on child health: a subject review. Pediatrics 105: 1349-1351.
3. American Anthropological Association (2000) Statement on "Race".
4. Amos CI, Wu X, Broderick P, Gorlov IP, Gu J, Eisen T, Dong Q, Zhang Q, Gu X, Vijayakrishnan J, Sullivan K, Matakidou A, Wang Y, Mills G, Doheny K, Tsai YY, Chen WV, Shete S, Spitz MR, Houlston RS (2008) Genome-wide association scan of tag SNPs identifies a susceptibility locus for lung cancer at 15q25. 1. Nat Genet 40: 616-622.
5. Anonymous (2002) Slicing soup. Nat Biotechnol 20: 637.
6. Anonymous (2003) Use of race and ethnicity in public health surveillance: summary of the CDC/ATSDR workshop. Morb Mortal Wkly Rep 42: 16.
7. Anonymous (2005) Author guidelines: race, ethnicity and nationality. Paediatric and perinatal epidemiology. In: Wiley-Blackwell. http://www. wiley. com/bw/submit. asp?ref=0269-5022. Accessed 21 Sept 2010.
8. Bamshad MJ, Olson SE (2003) Does race exist? Sci Am 289: 78-85.
9. Bamshad M, Wooding S, Salisbury BA, Stephens JC (2004) Deconstructing the relationship between genetics and race. Nat Rev Genet 5: 598-609.
10. Bhopal R (1997) Is research into ethnicity and health racist, unsound, or important science? BMJ 314: 1751-1756.
11. Bhopal R, Kohli H, Rankin J (1997) Editors' practice and views on terminology in ethnicity and health research. Ethn Health 2: 223-227.
12. Bishop DT, Demenais F, Iles MM, Harland M, Taylor JC, Corda E, Randerson-Moor J, Aitken JF, Avril MF, Azizi E, Bakker B, Bianchi-Scarra G, Bressac-de Paillerets B, Calista D, Cannon-Albright LA, Chin-A-Woeng T, Debniak T, Galore-Haskel G, Ghiorzo P, Gut I, Hansson J, Hocevar M, Hoiom V, Hopper JL, Ingvar C, Kanetsky PA, Kefford RF, Landi MT, Lang J, Lubinski J, Mackie R, Malvehy J, Mann GJ, Martin NG, Montgomery GW, van Nieuwpoort FA, Novakovic S, Olsson H, Puig S, Weiss M, van Workum W, Zelenika D, Brown KM, Goldstein AM, Gillanders EM, Boland A, Galan P, Elder DE, Gruis NA, Hayward NK, Lathrop GM, Barrett JH, Bishop JA (2009) Genome-wide association study identifies three loci associated with melanoma risk. Nat Genet 41: 920-925.
13. Bonham VL, Warshauer-Baker E, Collins FS (2005) Race and ethnicity in the genome era: the complexity of the constructs. Am Psychol 60: 9-15.
14. Braun L, Fausto-Sterling A, Fullwiley D, Hammonds EM, Nelson A, Quivers W, Reverby SM, Shields AE (2007) Racial categories in medical practice: how useful are they? PLoS Med 4: e271.
15. Bronstein M, Pisante A, Yakir B, Darvasi A (2008) Type 2 diabetes susceptibility loci in the Ashkenazi Jewish population. Hum Genet 124: 101-104.
16. Brown M (2007) Defining human differences in biomedicine. PLoS Med 4: e288.
17. Burchard EG, Ziv E, Coyle N, Gomez SL, Tang H, Karter AJ, Mountain JL, Perez-Stable EJ, Sheppard D, Risch N (2003) The importance of race and ethnic background in biomedical research and clinical practice. N Engl J Med 348: 1170-1175.
18. Burgner D, Davila S, Breunis WB, Ng SB, Li Y, Bonnard C, Ling L, Wright VJ, Thalamuthu A, Odam M, Shimizu C, Burns JC, Levin M, Kuijpers TW, Hibberd ML, International Kawasaki Disease Genetics Consortium (2009) A genome-wide association study identifies novel and functionally related susceptibility Loci for Kawasaki disease. PLoS Genet 5: e1000319.
19. Cardon LR, Palmer LJ (2003) Population stratification and spurious allelic association. Lancet 361: 598-604.
20. Caulfield T, Fullerton SM, Ali-Khan SE, Arbour L, Burchard EG, Cooper RS, Hardy BJ, Harry S, Hyde-Lay R, Kahn J, Kittles R, Koenig BA, Lee SS, Malinowski M, Ravitsky V, Sankar P, Scherer SW, Seguin B, Shickle D, Suarez-Kurtz G, Daar AS (2009) Race and ancestry in biomedical research: exploring the challenges. Genome Med 1: 8.
21. Chambers JC, Elliott P, Zabaneh D, Zhang W, Li Y, Froguel P, Balding D, Scott J, Kooner JS (2008) Common genetic variation near MC4R is associated with waist circumference and insulin resistance. Nat Genet 40: 716-718.
22. Choudhry S, Taub M, Mei R, Rodriguez-Santana J, Rodriguez-Cintron W, Shriver MD, Ziv E, Risch NJ, Burchard EG (2008) Genome-wide screen for asthma in Puerto Ricans: evidence for association with 5q23 region. Hum Genet 123: 455-468.
23. Clayton EW (2002) The complex relationship of genetics, groups, and health: what it means for public health. J Law Med Ethics 30: 290-297.
24. Collins FS (2004) What we do and don't know about 'race', 'ethnicity', genetics and health at the dawn of the genome era. Nat Genet 36: S13-S15.
25. Collins FS (2010) The language of life: DNA and the revolution in personalized medicine. Harper-Collins, New York.
26. Comstock RD, Castillo EM, Lindsay SP (2004) Four-year review of the use of race and ethnicity in epidemiologic and public health research. Am J Epidemiol 159: 611-619.
27. Condit CM (2007) How geneticists can help reporters to get their story right. Nat Rev Genet 8: 815-820.
28. Cooper RS, Kaufman JS, Ward R (2003) Race and genomics. N Engl J Med 348: 1166-1170.
29. Crosslin DR, Shah SH, Nelson SC, Haynes CS, Connelly JJ, Gadson S, Goldschmidt-Clermont PJ, Vance JM, Rose J, Granger CB, Seo D, Gregory SG, Kraus WE, Hauser ER (2009) Genetic effects in the leukotriene biosynthesis pathway and association with atherosclerosis. Hum Genet 125: 217-229.
30. Davis MM, Bruckman D, Cabana MD, Clark SJ, Dombkowski KJ, Kemper AR, Rushton JL, Freed GL (2001) Constructive use of race and ethnicity variables. Arch Pediatr Adolesc Med 155: 973 (author reply 973-974).
31. Diskin SJ, Hou C, Glessner JT, Attiyeh EF, Laudenslager M, Bosse K, Cole K, Mosse YP, Wood A, Lynch JE, Pecor K, Diamond M, Winter C, Wang K, Kim C, Geiger EA, McGrady PW, Blakemore AI, London WB, Shaikh TH, Bradfield J, Grant SF, Li H, Devoto M, Rappaport ER, Hakonarson H, Maris JM (2009) Copy number variation at 1q21. 1 associated with neuroblastoma. Nature 459: 987-991.
32. Duster T (2005) Medicine. Race and reification in science. Science 307: 1050-1051.
33. Editorial (1996) Ethnicity, race, and culture: guidelines for research, audit, and publication. BMJ 312: 1094.
34. Editorial (2004a) The unexamined population. Nat Genet 36: S3.
35. Editorial (2004b) The unexamined 'Caucasian'. Nat Genet 36: 541.
36. Foster MW, Sharp RR (2004) Beyond race: towards a whole-genome perspective on human populations and genetic variation. Nat Rev Genet 5: 790-796.
37. Ganesh SK, Zakai NA, van Rooij FJ, Soranzo N, Smith AV, Nalls MA, Chen MH, Kottgen A, Glazer NL, Dehghan A, Kuhnel B, Aspelund T, Yang Q, Tanaka T, Jaffe A, Bis JC, Verwoert GC, Teumer A, Fox CS, Guralnik JM, Ehret GB, Rice K, Felix JF, Rendon A, Eiriksdottir G, Levy D, Patel KV, Boerwinkle E, Rotter JI, Hofman A, Sambrook JG, Hernandez DG, Zheng G, Bandinelli S, Singleton AB, Coresh J, Lumley T, Uitterlinden AG, Vangils JM, Launer LJ, Cupples LA, Oostra BA, Zwaginga JJ, Ouwehand WH, Thein SL, Meisinger C, Deloukas P, Nauck M, Spector TD, Gieger C, Gudnason V, van Duijn CM, Psaty BM, Ferrucci L, Chakravarti A, Greinacher A, O'Donnell CJ, Witteman JC, Furth S, Cushman M, Harris TB, Lin JP (2009) Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium. Nat Genet 41: 1191-1198.
38. Garner CP, Ding YC, John EM, Ingles SA, Olopade OI, Huo D, Adebamowo C, Ogundiran T, Neuhausen SL (2008) Genetic variation in IGFBP2 and IGFBP5 is associated with breast cancer in populations of African descent. Hum Genet 123: 247-255.
39. Geiger HJ (2003) Racial and ethnic disparities in diagnosis and treatment: a review of the evidence and a consideration of causes. In: Smedley B, Stith A, Nelson A (eds) Unequal treatment: confronting racial and ethnic disparities in health care. The National Academic Press, Washington, pp 417-454.
40. Glessner JT, Wang K, Cai G, Korvatska O, Kim CE, Wood S, Zhang H, Estes A, Brune CW, Bradfield JP, Imielinski M, Frackelton EC, Reichert J, Crawford EL, Munson J, Sleiman PM, Chiavacci R, Annaiah K, Thomas K, Hou C, Glaberson W, Flory J, Otieno F, Garris M, Soorya L, Klei L, Piven J, Meyer KJ, Anagnostou E, Sakurai T, Game RM, Rudd DS, Zurawiecki D, McDougle CJ, Davis LK, Miller J, Posey DJ, Michaels S, Kolevzon A, Silverman JM, Bernier R, Levy SE, Schultz RT, Dawson G, Owley T, McMahon WM, Wassink TH, Sweeney JA, Nurnberger JI, Coon H, Sutcliffe JS, Minshew NJ, Grant SF, Bucan M, Cook EH, Buxbaum JD, Devlin B, Schellenberg GD, Hakonarson H (2009) Autism genome-wide copy number variation reveals ubiquitin and neuronal genes. Nature 459: 569-573.
41. Gould SJ (1981) The mis measure of man. W. W. Norton & Company, New York.
42. Hancock DB, Romieu I, Shi M, Sienra-Monge JJ, Wu H, Chiu GY, Li H, del Rio-Navarro BE, Willis-Owen SA, Weiss ST, Raby BA, Gao H, Eng C, Chapela R, Burchard EG, Tang H, Sullivan PF, London SJ (2009) Genome-wide association study implicates chromosome 9q21. 31 as a susceptibility locus for asthma in Mexican children. PLoS Genet 5: e1000623.
43. Harrison FV (1995) The persistent power of "race" in the cultural and political economy of racism. Annu Rev Anthropol 24: 47-74.
44. HUGO Pan-Asian SNP Consortium, Abdulla MA, Ahmed I, Assawamakin A, Bhak J, Brahmachari SK, Calacal GC, Chaurasia A, Chen CH, Chen J, Chen YT, Chu J, Cutiongco-de la Paz EM, De Ungria MC, Delfin FC, Edo J, Fuchareon S, Ghang H, Gojobori T, Han J, Ho SF, Hoh BP, Huang W, Inoko H, Jha P, Jinam TA, Jin L, Jung J, Kangwanpong D, Kampuansai J, Kennedy GC, Khurana P, Kim HL, Kim K, Kim S, Kim WY, Kimm K, Kimura R, Koike T, Kulawonganunchai S, Kumar V, Lai PS, Lee JY, Lee S, Liu ET, Majumder PP, Mandapati KK, Marzuki S, Mitchell W, Mukerji M, Naritomi K, Ngamphiw C, Niikawa N, Nishida N, Oh B, Oh S, Ohashi J, Oka A, Ong R, Padilla CD, Palittapongarnpim P, Perdigon HB, Phipps ME, Png E, Sakaki Y, Salvador JM, Sandraling Y, Scaria V, Seielstad M, Sidek MR, Sinha A, Srikummool M, Sudoyo H, Sugano S, Suryadi H, Suzuki Y, Tabbada KA, Tan A, Tokunaga K, Tongsima S, Villamor LP, Wang E, Wang Y, Wang H, Wu JY, Xiao H, Xu S, Yang JO, Shugart YY, Yoo HS, Yuan W, Zhao G, Zilfalil BA, Indian Genome Variation Consortium (2009) Mapping human genetic diversity in Asia. Science 326: 1541-1545.
45. International Council of Medical Journal Editors (2010) Uniform requirements for manuscripts submitted to Biomedical Journals: writing and editing for biomedical publication, publication ethics: sponsorship, authorship, and accountability. http://www. icmje. org/urm_full. pdf. Accessed 21 Sept 2010.
46. Ioannidis JP, Ntzani EE, Trikalinos TA (2004) 'Racial' differences in genetic effects for complex diseases. Nat Genet 36: 1312-1318.
47. Iverson C, Flanagin A, Fontanarosa PB, Glass RM, Giltman P, Lantz JC, Meyer HS, Smith JM, Winker MA, Young RK (1998) American medical association manual of style: a guide for authors and editors, 9th edn.
48. Jenkins G, Merz JF, Sankar P (2005) A qualitative study of women's views on medical confidentiality. J Med Ethics 31: 499-504.
49. Kalow W (2001) Pharmacogenetics, pharmacogenomics, and pharmacobiology. Clin Pharmacol Ther 70: 1-4.
50. Kaplan JB, Bennett T (2003) Use of race and ethnicity in biomedical publication. JAMA 289: 2709-2716.
51. Keyser C, Bouakaze C, Crubezy E, Nikolaev VG, Montagnon D, Reis T, Ludes B (2009) Ancient DNA provides new insights into the history of south Siberian Kurgan people. Hum Genet 126: 395-410.
52. Kressin NR, Chang BH, Hendricks A, Kazis LE (2003) Agreement between administrative data and patients' self-reports of race/ethnicity. Am J Public Health 93: 1734-1739.
53. Lee SS (2004) "Incidental findings" of race in pharmacogenomics and the infrastructure for finding differences in biomedical research, pp 81-94.
54. Lee SS (2005) Racializing drug design: implications of pharmacogenomics for health disparities. Am J Public Health 95: 2133-2138.
55. Lee SS, Mountain J, Koenig B, Altman R, Brown M, Camarillo A, Cavalli-Sforza L, Cho M, Eberhardt J, Feldman M, Ford R, Greely H, King R, Markus H, Satz D, Snipp M, Steele C, Underhill P (2008) The ethics of characterizing difference: guiding principles on using racial categories in human genetics. Genome Biol 9: 404.
56. Lei SF, Yang TL, Tan LJ, Chen XD, Guo Y, Guo YF, Zhang L, Liu XG, Yan H, Pan F, Zhang ZX, Peng YM, Zhou Q, He LN, Zhu XZ, Cheng J, Liu YZ, Papasian CJ, Deng HW (2009) Genome-wide association scan for stature in Chinese: evidence for ethnic specific loci. Hum Genet 125: 1-9.
57. Lewontin RC (1995) Human diversity (Scientific American Library Series). W. H. Freeman & Company, second printing edition (October 1995).
58. Li JZ, Absher DM, Tang H, Southwick AM, Casto AM, Ramachandran S, Cann HM, Barsh GS, Feldman M, Cavalli-Sforza LL, Myers RM (2008) Worldwide human relationships inferred from genome-wide patterns of variation. Science 319: 1100-1104.
59. Long JC, Kittles RA (2009) Human genetic diversity and the nonexistence of biological races. 2003. Hum Biol 81: 777-798.
60. Marchini J, Cardon LR, Phillips MS, Donnelly P (2004) The effects of human population structure on large genetic association studies. Nat Genet 36: 512-517.
61. Nath SK, Han S, Kim-Howard X, Kelly JA, Viswanathan P, Gilkeson GS, Chen W, Zhu C, McEver RP, Kimberly RP, Alarcon-Riquelme ME, Vyse TJ, Li QZ, Wakeland EK, Merrill JT, James JA, Kaufman KM, Guthridge JM, Harley JB (2008) A nonsynonymous functional variant in integrin-alpha(M) (encoded by ITGAM) is associated with systemic lupus erythematosus. Nat Genet 40: 152-154.
62. Novembre J, Johnson T, Bryc K, Kutalik Z, Boyko AR, Auton A, Indap A, King KS, Bergmann S, Nelson MR, Stephens M, Bustamante CD (2008) Genes mirror geography within Europe. Nature 456: 98-101.
63. Oppenheimer GM (2001) Paradigm lost: race, ethnicity, and the search for a new population taxonomy. Am J Public Health 91: 1049-1055.
64. Osborne NG, Feit MD (1992) The use of race in medical research. JAMA 267: 275-279.
65. Patterson N, Petersen DC, van der Ross RE, Sudoyo H, Glashoff RH, Marzuki S, Reich D, Hayes VM (2010) Genetic structure of a unique admixed population: implications for medical research. Hum Mol Genet 19: 411-419.
66. Plaisier CL, Horvath S, Huertas-Vazquez A, Cruz-Bautista I, Herrera MF, Tusie-Luna T, Aguilar-Salinas C, Pajukanta P (2009) A systems genetics approach implicates USF1, FADS3, and other causal candidate genes for familial combined hyperlipidemia. PLoS Genet 5: e1000642.
67. Provine WB (1973) Geneticists and the biology of race crossing. Science 182: 790-796.
68. Race, Ethnicity and Genetics Working Group (2005) The use of racial, ethnic, and ancestral categories in human genetics research. Am J Hum Genet 77: 519-532.
69. Rasmussen-Torvik LJ, Pankow JS, Jacobs DR Jr, Steinberger J, Moran A, Sinaiko AR (2009) The association of SNPs in ADIPOQ, ADIPOR1, and ADIPOR2 with insulin sensitivity in a cohort of adolescents and their parents. Hum Genet 125: 21-28.
70. Reich D, Thangaraj K, Patterson N, Price AL, Singh L (2009) Reconstructing Indian population history. Nature 461: 489-494.
71. Risch N, Burchard E, Ziv E, Tang H (2002) Categorization of humans in biomedical research: genes, race and disease. Genome Biol 3 (comment 2007).
72. Rivara F, Finberg L (2001) Use of the terms race and ethnicity. Arch Pediatr Adolesc Med 155: 119.
73. Rosenberg NA, Pritchard JK, Weber JL, Cann HM, Kidd KK, Zhivotovsky LA, Feldman MW (2002) Genetic structure of human populations. Science 298: 2381-2385.
74. Rotimi CN (2004) Are medical and nonmedical uses of large-scale genomic markers conflating genetics and 'race'? Nat Genet 36: S43-S47.
75. Royal CD, Novembre J, Fullerton SM, Goldstein DB, Long JC, Bamshad MJ, Clark AG (2010) Inferring genetic ancestry: opportunities, challenges, and implications. Am J Hum Genet 86: 661-673.
76. Rung J, Cauchi S, Albrechtsen A, Shen L, Rocheleau G, Cavalcanti-Proenca C, Bacot F, Balkau B, Belisle A, Borch-Johnsen K, Charpentier G, Dina C, Durand E, Elliott P, Hadjadj S, Jarvelin MR, Laitinen J, Lauritzen T, Marre M, Mazur A, Meyre D, Montpetit A, Pisinger C, Posner B, Poulsen P, Pouta A, Prentki M, Ribel-Madsen R, Ruokonen A, Sandbaek A, Serre D, Tichet J, Vaxillaire M, Wojtaszewski JF, Vaag A, Hansen T, Polychronakos C, Pedersen O, Froguel P, Sladek R (2009) Genetic variant near IRS1 is associated with type 2 diabetes, insulin resistance and hyperinsulinemia. Nat Genet 41: 1110-1115.
77. Sankar P, Cho MK (2002) Genetics. Toward a new vocabulary of human genetic variation. Science 298: 1337-1338.
78. Sankar P, Cho MK, Condit CM, Hunt LM, Koenig B, Marshall P, Lee SS, Spicer P (2004) Genetic research and health disparities. JAMA 291: 2985-2989.
79. Sankar P, Cho MK, Mountain J (2007) Race and ethnicity in genetic research. Am J Med Genet A 143A: 961-970.
80. Schwartz RS (2001) Racial profiling in medical research. N Engl J Med 344: 1392-1393.
81. Shanawani H, Dame L, Schwartz DA, Cook-Deegan R (2006) Non-reporting and inconsistent reporting of race and ethnicity in articles that claim associations among genotype, outcome, and race or ethnicity. J Med Ethics 32: 724-728.
82. Shi H, Tan SJ, Zhong H, Hu W, Levine A, Xiao CJ, Peng Y, Qi XB, Shou WH, Ma RL, Li Y, Su B, Lu X (2009) Winter temperature and UV are tightly linked to genetic changes in the p53 tumor suppressor pathway in Eastern Asia. Am J Hum Genet 84: 534-541.
83. Shriver MD, Kennedy GC, Parra EJ, Lawson HA, Sonpar V, Huang J, Akey JM, Jones KW (2004) The genomic distribution of population substructure in four populations using 8, 525 autosomal SNPs. Hum Genomics 1: 274-286.
84. Smart A, Tutton R, Ashcroft R, Martin PA, Ellison GTH (2006) Can science alone improve the measurement and communication of race and ethnicity in genetic research? Exploring the strategies proposed by nature genetics. BioSocieties 1: 313-324.
85. Stevens J (2003) Racial meanings and scientific methods: changing policies for NIH-sponsored publications reporting human variation. J Health Polit Policy Law 28: 1033-1088.
86. Tang H, Quertermous T, Rodriguez B, Kardia SL, Zhu X, Brown A, Pankow JS, Province MA, Hunt SC, Boerwinkle E, Schork NJ, Risch NJ (2005) Genetic structure, self-identified race/ethnicity, and confounding in case-control association studies. Am J Hum Genet 76: 268-275.
87. Tishkoff SA, Reed FA, Friedlaender FR, Ehret C, Ranciaro A, Froment A, Hirbo JB, Awomoyi AA, Bodo JM, Doumbo O, Ibrahim M, Juma AT, Kotze MJ, Lema G, Moore JH, Mortensen H, Nyambo TB, Omar SA, Powell K, Pretorius GS, Smith MW, Thera MA, Wambebe C, Weber JL, Williams SM (2009) The genetic structure and history of Africans and African Americans. Science 324: 1035-1044.
88. Trevino LR, Yang W, French D, Hunger SP, Carroll WL, Devidas M, Willman C, Neale G, Downing J, Raimondi SC, Pui CH, Evans WE, Relling MV (2009) Germline genomic variants associated with childhood acute lymphoblastic leukemia. Nat Genet 41: 1001-1005.
89. Via M, Ziv E, Burchard EG (2009) Recent advances of genetic ancestry testing in biomedical research and direct to consumer testing. Clin Genet 76: 225-235.
90. Walsh T, McClellan JM, McCarthy SE, Addington AM, Pierce SB, Cooper GM, Nord AS, Kusenda M, Malhotra D, Bhandari A, Stray SM, Rippey CF, Roccanova P, Makarov V, Lakshmi B, Findling RL, Sikich L, Stromberg T, Merriman B, Gogtay N, Butler P, Eckstrand K, Noory L, Gochman P, Long R, Chen Z, Davis S, Baker C, Eichler EE, Meltzer PS, Nelson SF, Singleton AB, Lee MK, Rapoport JL, King MC, Sebat J (2008) Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia. Science 320: 539-543.
91. Wang K, Zhang H, Ma D, Bucan M, Glessner JT, Abrahams BS, Salyakina D, Imielinski M, Bradfield JP, Sleiman PM, Kim CE, Hou C, Frackelton E, Chiavacci R, Takahashi N, Sakurai T, Rappaport E, Lajonchere CM, Munson J, Estes A, Korvatska O, Piven J, Sonnenblick LI, Alvarez Retuerto AI, Herman EI, Dong H, Hutman T, Sigman M, Ozonoff S, Klin A, Owley T, Sweeney JA, Brune CW, Cantor RM, Bernier R, Gilbert JR, Cuccaro ML, McMahon WM, Miller J, State MW, Wassink TH, Coon H, Levy SE, Schultz RT, Nurnberger JI, Haines JL, Sutcliffe JS, Cook EH, Minshew NJ, Buxbaum JD, Dawson G, Grant SF, Geschwind DH, Pericak-Vance MA, Schellenberg GD, Hakonarson H (2009) Common genetic variants on 5p14. 1 associate with autism spectrum disorders. Nature 459: 528-533.
92. Wing MR, Ziegler J, Langefeld CD, Ng MC, Haffner SM, Norris JM, Goodarzi MO, Bowden DW (2009) Analysis of FTO gene variants with measures of obesity and glucose homeostasis in the IRAS family study. Hum Genet 125: 615-626.
93. Winker MA (2004) Measuring race and ethnicity: why and how? JAMA 292: 1612-1614.
94. Wood AJ (2001) Racial differences in the response to drugs-pointers to genetic differences. N Engl J Med 344: 1394-1396.
95. Xiong DH, Liu XG, Guo YF, Tan LJ, Wang L, Sha BY, Tang ZH, Pan F, Yang TL, Chen XD, Lei SF, Yerges LM, Zhu XZ, Wheeler VW, Patrick AL, Bunker CH, Guo Y, Yan H, Pei YF, Zhang YP, Levy S, Papasian CJ, Xiao P, Lundberg YW, Recker RR, Liu YZ, Liu YJ, Zmuda JM, Deng HW (2009) Genome-wide association and follow-up replication studies identified ADAMTS18 and TGFBR3 as bone mass candidate genes in different ethnic groups. Am J Hum Genet 84: 388-398.
96. Yamaguchi-Kabata Y, Nakazono K, Takahashi A, Saito S, Hosono N, Kubo M, Nakamura Y, Kamatani N (2008) Japanese population structure, based on SNP genotypes from 7003 individuals compared to other ethnic groups: effects on population-based association studies. Am J Hum Genet 83: 445-456.
97. Yasuda K, Miyake K, Horikawa Y, Hara K, Osawa H, Furuta H, Hirota Y, Mori H, Jonsson A, Sato Y, Yamagata K, Hinokio Y, Wang HY, Tanahashi T, Nakamura N, Oka Y, Iwasaki N, Iwamoto Y, Yamada Y, Seino Y, Maegawa H, Kashiwagi A, Takeda J, Maeda E, Shin HD, Cho YM, Park KS, Lee HK, Ng MC, Ma RC, So WY, Chan JC, Lyssenko V, Tuomi T, Nilsson P, Groop L, Kamatani N, Sekine A, Nakamura Y, Yamamoto K, Yoshida T, Tokunaga K, Itakura M, Makino H, Nanjo K, Kadowaki T, Kasuga M (2008) Variants in KCNQ1 are associated with susceptibility to type 2 diabetes mellitus. Nat Genet 40: 1092-1097.
98. Yeager M, Chatterjee N, Ciampa J, Jacobs KB, Gonzalez-Bosquet J, Hayes RB, Kraft P, Wacholder S, Orr N, Berndt S, Yu K, Hutchinson A, Wang Z, Amundadottir L, Feigelson HS, Thun MJ, Diver WR, Albanes D, Virtamo J, Weinstein S, Schumacher FR, Cancel-Tassin G, Cussenot O, Valeri A, Andriole GL, Crawford ED, Haiman CA, Henderson B, Kolonel L, Le Marchand L, Siddiq A, Riboli E, Key TJ, Kaaks R, Isaacs W, Isaacs S, Wiley KE, Gronberg H, Wiklund F, Stattin P, Xu J, Zheng SL, Sun J, Vatten LJ, Hveem K, Kumle M, Tucker M, Gerhard DS, Hoover RN, Fraumeni JF Jr, Hunter DJ, Thomas G, Chanock SJ (2009) Identification of a new prostate cancer susceptibility locus on chromosome 8q24. Nat Genet 41: 1055-1057.