The role of self-defined race/ethnicity in population structure control

Annals of Human Genetics

Volumn 70, Issue 4, 2006, Pages 496-505

  Liu, X Q ^a   Paterson, A D ^a,b   John, E M ^c   Knight, J A ^b,d  

^a HOSPITAL FOR SICK CHILDREN   (Canada)

^b UNIVERSITY OF TORONTO   (Canada)

^c NORTHERN CALIFORNIA CANCER CENTER   (United States)

^d MOUNT SINAI HOSPITAL   (Canada)

Author keywords

Association study; Gene mapping; Genetic structure; Population stratification bias; Skin pigmentation

Indexed keywords

AMELOGENIN; DNA;

ADULT; AFRICAN AMERICAN; AGED; ALLELE; ARTICLE; BREAST CANCER; CANCER RISK; CONTROLLED STUDY; ETHNIC DIFFERENCE; EUROPEAN AMERICAN; FEMALE; GENE MAPPING; GENETIC ASSOCIATION; GENETIC MARKER; GENETIC RISK; GENOTYPE; HETEROZYGOSITY; HISPANIC; HUMAN; MAJOR CLINICAL STUDY; MICROSATELLITE MARKER; PHENOTYPIC VARIATION; POPULATION DYNAMICS; POPULATION GENETICS; POPULATION STRUCTURE; PRIORITY JOURNAL; RACE DIFFERENCE; SENSITIVITY ANALYSIS; SHORT TANDEM REPEAT; SKIN PIGMENTATION; STATISTICAL ANALYSIS;

AFRICAN AMERICANS; CASE-CONTROL STUDIES; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; GENETICS, POPULATION; HISPANIC AMERICANS; HUMANS; LINKAGE (GENETICS); MICROSATELLITE REPEATS; SELF DISCLOSURE; SKIN PIGMENTATION;

EID: 33744504163     PISSN: 00034800     EISSN: 14691809     Source Type: Journal    
DOI: 10.1111/j.1469-1809.2005.00255.x     Document Type: Article

References (31)

1. Altman, D. G. (1991) Practical statistics for medical research. London: Chapman & Hall.
2. Ardlie, K. G., Lunetta, K. L. & Seielstad, M. (2002) Testing for population subdivision and association in four case-control studies. Am J Hum Genet 71, 304-311.
3. Bamshad, M. J., Wooding, S., Watkins, W. S., Ostler, C. T., Batzer, M. A. & Jorde, L. B. (2003) Human population genetic structure and inference of group membership. Am J Hum Genet 72, 578-589.
4. Barnholtz-Sloan, J. S., Chakraborty, R., Sellers, T. A. & Schwartz, A. G. (2005) Examining population stratification via individual ancestry estimates versus self-reported race. Cancer Epidemiol Biomarkers Prev 14, 1545-1551.
5. Chakraborty, R. & Weiss, K. M. (1988) Admixture as a tool for finding linked genes and detecting that difference from allelic association between loci. Proc Natl Acad Sci USA 85, 9119-9123.
6. Cohen, J. (1960) A Coefficient of Agreement for Nominal Scales. Educ Psychol Meas 20, 37-46.
7. Devlin, B. & Roeder, K. (1999) Genomic control for association studies. Biometrics 55, 997-1004.
8. Freedman, M. L., Reich, D., Penney, K. L., McDonald, G. J., Mignault, A. A., Patterson, N., Gabriel, S. B., Topol, E. J., Smoller, J. W., Pato, C. N., Pato, M. T., Petryshen, T. L., Kolonel, L.N., Lander, E.S., Sklar, P., Henderson, B., Hirschhorn, J.N. & Altshuler, D. (2004) Assessing the impact of population stratification on genetic association studies. Nat Genet 36, 388-393.
9. Hanis, C. L., Newett-Emmett, D., Bertin, T. K. & Schull, W. J. (1991) Origins of U.S. Hispanics. Implications for diabetes. Diabetes Care 14, 618-627.
10. John, E. M., Horn-Ross, P. L. & Koo J. (2003) Lifetime physical activity and breast cancer risk in a multiethnic population: The San Francisco Bay Area Breast Cancer Study. Cancer Epidemiol Biomarkers Prev 12, 1143-1152.
11. Lander, E. S. & Schork, N. J. (1994) Genetic dissection of complex traits. Science 265, 2037-2048.
12. Lange, K., Cantor, R., Horvath, S., Perola, M., Sabatti, C., Sinsheimer, J. & Sobel, E. (2001) Mendel version 4.0: A complete package for the exact genetic analysis of discrete traits in pedigree and population data sets. Am J Hum Genet 69 (supplement), A1886.
13. Parra, E. J., Marcini, A., Akey, J., Martinson, J., Batzer, M. A., Cooper, R., Forrester, T., Allison, D. B., Deka, R., Ferrell, R. E. & Shriver, M. D. (1998) Estimating African American admixture proportions by use of population specific alleles. Am J Hum Genet 63, 1839-1851.
14. Parra, E. J., Kittles, R. A. & Shriver, M. D. (2004) Implications of correlations between skin color and genetic ancestry for biomedical research. Nat Genet 36, S54-S60.
15. Pritchard, J. K. & Rosenberg, N. A. (1999) Use of unlinked genetic markers to detect population stratification in association studies. Am J Hum Genet 65, 220-228.
16. Pritchard, J. K., Stephens, M., Rosenberg, N. A. & Donnelly, P. (2000a) Association mapping in structured populations. Am J Hum Genet 67, 170-181.
17. Pritchard, J. K., Stephens, M. & Donnelly, P. (2000b) Inference of population structure using multilocus genotype data. Genetics 155, 945-959.
18. Pritchard, J. K. & Rosenberg, N. A. (2001) Case-control studies of association in structured or admixed populations. Theor Popul Biol 60, 227-237.
19. Reich, D. E. & Goldstein, D. B. (2001) Detecting association in a case-control study while correcting for population stratification. Genet Epidemiol 20, 4-16.
20. Risch, N. J. (2000) Searching for genetic determinants in the new millennium. Nature 405, 847-856.
21. Risch, N., Burchard, E., Ziv, E. & Tang, H. (2002) Categorization of humans in biomedical research: Genes, race and disease. Genome Biol 3, 1-12.
22. Rosenberg, N. A., Burke, T., Elo, K., Feldman, M. W., Freidlin, P. J., Groenen, M. A. M., Hillel, J., Máki-Tanila, A., Tixier-Boichard, M., Vignal, A., Wimmers, K. & Weigend, S. (2001) Empirical evaluation of genetic clustering methods using multilocus genotypes from 20 chicken breeds. Genetics 159, 699-713.
23. Rosenberg, N. A., Li, L. M., Ward, R. & Pritchard, J. K. (2003) Informativeness of genetic markers for inference of ancestry. Am J Hum Genet 73, 1402-1422.
24. Satten, G. A., Flanders, W. D. & Yang, Q. (2001) Accounting for unmeasured population structure in case-control studies of genetic association using a novel latent-class model. Am J Hum Genet 68, 466-477.
25. Schneider, S., Roessli, D. & Excoffier, L. (2000) Arlequin ver. 2.000: A software for population genetics data analysis. Genetics and Biometry Laboratory, University of Geneva, Switzerland.
26. Shriver, M. D., Parra, E. J., Dios, S., Bonilla, C., Norton, H., Jovel, C., Pfaff, C., Jones, C., Massac, A., Cameron, N., Baron, A., Jackson, T., Argyropoulos, G., Jin, L., Hoggart, C. J., McKeigue, P. M. & Kittles, R. A. (2003) Skin pigmentation, biogeographical ancestry and admixture mapping. Hum Genet 112, 387-399.
27. Tseng, M., Williams, R. C., Maurer, K. R., Schanfield, M. S., Knowler, W. C. & Everhart, J. E. (1998) Genetic admixture and gallbladder disease in Mexican Americans. Am J Phys Anthrop 106, 361-371.
28. Wacholder, S., Rothman, N. & Caporaso, N. (2000) Population stratification in epidemiologic studies of common genetic variants and cancer: Quantification of bias. J Natl Cancer Inst 92, 1151-1158.
29. Wacholder, S., Rothman, N. & Caporaso, N. (2002) Counterpoint: Bias from population stratification is not a major threat to the validity of conclusions from epidemiological studies of common polymorphisms and cancer. Cancer Epidemiol Biomarkers Prev 11, 513-520.
30. Wilson, J. F., Weale, M. E., Smith, A. C., Gratrix, F., Fletcher, B., Thomas, M. G., Bradman, N. & Goldstein, D. B. (2001) Population genetic structure of variable drug response. Nat Genet 29, 265-269.
31. Wright, S. (1965) The interpretation of population structure by F-statistics with special regards to systems of mating. Evolution 19, 395-420.