Use of Unlinked Genetic Markers to Detect Population Stratification in Association Studies
Open accessAbstract
We examine the issue of population stratification in association-mapping studies. In case-control studies of association, population subdivision or recent admixture of populations can lead to spurious associations between a phenotype and unlinked candidate loci. Using a model of sampling from a structured population, we show that if population stratification exists, it can be detected by use of unlinked marker loci. We show that the case-control-study design, using unrelated control individuals, is a valid approach for association mapping, provided that marker loci unlinked to the candidate locus are included in the study, to test for stratification. We suggest guidelines as to the number of unlinked marker loci to use.
Integrity signals
Registry
Cites
Statistics
Claims the paper makes
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
Methods were developed to detect and adjust for ancestry biases and unexpected relatedness between subjects.
“Methods were developed to detect and adjust for such biases (67–69) as well as unexpected relatedness between subjects.”
From Genetic Mapping in Human Disease (2008) · cites this paper as [68]
Under the null (one-cluster) model of no population structure, there was a large excess of small P values in χ2 tests for association with skin color, and a global test for population stratification based on the sum of χ2 statistics was highly statistically significant (P < 10^-40).
“Under the null (one-cluster) model of no population structure, for which the L and H groups are assumed to be well matched, we observed a large excess of small P values in x 2 tests for association with skin color (table 2), and a global test for population stratification based on the sum of x 2 statistics 46 was highly statistically significant”
From A Genomewide Association Study of Skin Pigmentation in a South Asian Population (2007) · cites this paper as [46]
Cites
THE GENETICAL STRUCTURE OF POPULATIONS
Wright, S. (1949) · Annals of Eugenics · doi:10.1111/j.1469-1809.1949.tb02451.x · Cited by 6,729 · see citing works
The Future of Genetic Studies of Complex Human Diseases
Risch, N., & Merikangas, K. (1996) · Science · doi:10.1126/science.273.5281.1516 · Cited by 5,355 · see citing works
Spielman, R. S., McGinnis, R. E., & Ewens, W. J. (1993) · PubMed · Cited by 3,679 · see citing works
Genetic Dissection of Complex Traits
Lander, E. S., & Schork, N. J. (1994) · Science · doi:10.1126/science.8091226 · Cited by 3,425 · see citing works
The History and Geography of Human Genes
Cavalli-Sforza, L. L., Menozzi, P., & Piazza, A. (2018) · Princeton University Press eBooks · doi:10.2307/j.ctv301gjp · Cited by 3,175 · see citing works
Wang, D. G., Fan, J., Siao, C.-J., Berno, A. J., Young, P. R., Sapolsky, R., Ghandour, G., Perkins, N., Winchester, E., Spencer, J. B., et al. (1998) · Science · doi:10.1126/science.280.5366.1077 · Cited by 2,162 · see citing works
Genetic dissection of complex traits
Witte, J., Elston, R., & Schork, N. (1996) · Nature Genetics · doi:10.1038/ng0496-355 · Cited by 1,883 · see citing works
Gene genealogies and the coalescent process.
Hudson, R. R. (1990) · Medical Entomology and Zoology · Cited by 1,791 · see citing works
Evaluating loci for use in the genetic analysis of population structure
(1996) · Proceedings of the Royal Society B Biological Sciences · doi:10.1098/rspb.1996.0237 · Cited by 1,733 · see citing works
The history and geography of human genes
Cann, R. L. (1995) · Choice Reviews Online · doi:10.5860/choice.33-0316 · Cited by 1,328 · see citing works
Oxford Surveys in Evolutionary Biology
Allendorf, F. W., Dawkins, R., & Ridley, M. (1989) · Evolution · doi:10.2307/2409372 · Cited by 1,084 · see citing works
Microsatellites: Evolution and Applications
(1999) · doi:10.1093/oso/9780198504085.001.0001 · Cited by 1,043 · see citing works
Genetic absolute dating based on microsatellites and the origin of modern humans.
Goldstein, D. B., Ruiz‐Linares, A., Cavalli-Sforza, L. L., & Feldman, M. W. (1995) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.92.15.6723 · Cited by 764 · see citing works
A Sibship Test for Linkage in the Presence of Association: The Sib Transmission/Disequilibrium Test
Spielman, R. S., & Ewens, W. J. (1998) · The American Journal of Human Genetics · doi:10.1086/301714 · Cited by 666 · see citing works
Inbreeding coefficients and coalescence times
Slatkin, M. (1991) · Genetics Research · doi:10.1017/s0016672300029827 · Cited by 629 · see citing works
Falk, C. T., & Rubinstein, P. G. (1987) · Annals of Human Genetics · doi:10.1111/j.1469-1809.1987.tb00875.x · Cited by 618 · see citing works
The transmission/disequilibrium test: history, subdivision, and admixture.
Ewens, W. J., & Spielman, R. S. (1995) · PubMed Central · Cited by 546 · see citing works
Drift, admixture, and selection in human evolution: a study with DNA polymorphisms.
Bowcock, A. M., Kidd, J. R., Mountain, J. L., Hebert, J. M., Carotenuto, L., Kídd, K. K., & Cavalli-Sforza, L. L. (1991) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.88.3.839 · Cited by 414 · see citing works
Ethnic-affiliation estimation by use of population-specific DNA markers.
Shriver, M. D., Smith, M. W., Li, J., Marcini, A., Akey, J. M., Deka, R., & Ferrell, R. E. (1997) · PubMed · Cited by 382 · see citing works
Microsatellite diversity and the demographic history of modern humans.
Jorde, L., Rogers, A., Bamshad, M., Watkins, W., Krakowiak, P., Sung, S. S., Kere, J., & Harpending, H. (1997) · Proceedings of the National Academy of Sciences of the United States of America · doi:10.1073/pnas.94.7.3100 · Cited by 253 · see citing works
Jorde, L. B., Bamshad, M. J., Watkins, W. S., Zenger, R., Fraley, A. E., Krakowiak, P., Carpenter, K., Soodyall, H., Jenkins, T., & Rogers, A. R. (1995) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320570340 · Cited by 210 · see citing works
Genetic Association Mapping Based on Discordant Sib Pairs: The Discordant-Alleles Test
Boehnke, M., & Langefeld, C. D. (1998) · The American Journal of Human Genetics · doi:10.1086/301787 · Cited by 206 · see citing works
McKeigue, P. (1997) · PubMed · Cited by 156 · see citing works
A Conditional Inference Framework for Extending the Transmission/Disequilibrium Test
Lazzeroni, L. C., & Lange, K. L. (1998) · Human Heredity · doi:10.1159/000022784 · Cited by 138 · see citing works
HLA and insulin gene associations with IDDM
Thomson, G., Robinson, W. P., Kuhner, M. K., Joe, S.-H., & Klitz, W. (1989) · Genetic Epidemiology · doi:10.1002/gepi.1370060129 · Cited by 93 · see citing works
Mutation and migration in models of microsatellite evolution
Feldman, M. W., Kumm, J., & Pritchard, J. K. (1999) · Oxford University Press eBooks · doi:10.1093/oso/9780198504085.003.0008 · Cited by 20 · see citing works
Self-citation
Flagged first, then by citations
1 of the 27 references couldn’t be matched to a known paper.
Cited by
Sorted by citations
Inference of Population Structure Using Multilocus Genotype Data
Pritchard, J. K., Stephens, M., & Donnelly, P. (2000) · Genetics · doi:10.1093/genetics/155.2.945 · Cited by 33,871 · see citing works
Self-citationGenome-wide association studies for common diseases and complex traits
Hirschhorn, J. N., & Daly, M. J. (2005) · Nature Reviews Genetics · doi:10.1038/nrg1521 · Cited by 2,853 · see citing works
Effect of COMT Val 108/158 Met genotype on frontal lobe function and risk for schizophrenia
Egan, M. F., Goldberg, T. E., Kolachana, B. S., Callicott, J. H., Mazzanti, C. M., Straub, R. E., Goldman, D. A., & Weinberger, D. R. (2001) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.111134598 · Cited by 2,374 · see citing works
Association mapping in structured populations.
Pritchard, J. K., Stephens, M., Rosenberg, N., & Donnelly, P. (2000) · American Journal of Human Genetics · doi:10.1086/302959 · Cited by 2,066 · see citing works
Self-citationSearching for genetic determinants in the new millennium
Risch, N. J. (2000) · Nature · doi:10.1038/35015718 · Cited by 1,839 · see citing works
Structure of Linkage Disequilibrium in Plants
Flint-Garcia, S. A., Thornsberry, J. M., & Buckler, E. S. (2003) · Annual Review of Plant Biology · doi:10.1146/annurev.arplant.54.031902.134907 · Cited by 1,700 · see citing works
A comprehensive review of genetic association studies
Hirschhorn, J. N., Lohmueller, K., Byrne, E., & Hirschhorn, K. (2002) · Genetics in Medicine · doi:10.1097/00125817-200203000-00002 · Cited by 1,674 · see citing works
Genetic Mapping in Human Disease
Altshuler, D., Daly, M. J., & Lander, E. S. (2008) · Science · doi:10.1126/science.1156409 · Cited by 1,452 · see citing works
Genetics in geographically structured populations: defining, estimating and interpreting FST
Holsinger, K. E., & Weir, B. S. (2009) · Nature Reviews Genetics · doi:10.1038/nrg2611 · Cited by 1,422 · see citing works
Association study designs for complex diseases
Cardon, L. R., & Bell, J. I. (2001) · Nature Reviews Genetics · doi:10.1038/35052543 · Cited by 1,380 · see citing works
Status and Prospects of Association Mapping in Plants
Zhu, C., Gore, M. A., Buckler, E. S., & Yu, J. (2008) · The Plant Genome · doi:10.3835/plantgenome2008.02.0089 · Cited by 1,344 · see citing works
Linkage disequilibrium in humans: models and data.
Pritchard, J., & Przeworski, M. (2001) · American Journal of Human Genetics · doi:10.1086/321275 · Cited by 1,340 · see citing works
Self-citationPopulation stratification and spurious allelic association
Cardon, L. R., & Palmer, L. J. (2003) · The Lancet · doi:10.1016/s0140-6736(03)12520-2 · Cited by 1,189 · see citing works
New approaches to population stratification in genome-wide association studies
Price, A. L., Zaitlen, N., Reich, D., & Patterson, N. J. (2010) · Nature Reviews Genetics · doi:10.1038/nrg2813 · Cited by 1,181 · see citing works
A review on coronary artery disease, its risk factors, and therapeutics
Malakar, A. K., Choudhury, D., Halder, B., Paul, P., Uddin, A., & Chakraborty, S. (2019) · Journal of Cellular Physiology · doi:10.1002/jcp.28350 · Cited by 1,176 · see citing works
Genome-wide association studies: theoretical and practical concerns
Wang, W. Y. S., Barratt, B. J., Clayton, D. G., & Todd, J. A. (2005) · Nature Reviews Genetics · doi:10.1038/nrg1522 · Cited by 1,159 · see citing works
Gene–environment interactions in human diseases
Hunter, D. J. (2005) · Nature Reviews Genetics · doi:10.1038/nrg1578 · Cited by 1,132 · see citing works
Genetic association mapping and genome organization of maize
Yu, J., & Buckler, E. S. (2006) · Current Opinion in Biotechnology · doi:10.1016/j.copbio.2006.02.003 · Cited by 974 · see citing works
Maize association population: a high‐resolution platform for quantitative trait locus dissection
Flint-Garcia, S. A., Thuillet, A., Yu, J., Pressoir, G., Romero, S. M., Mitchell, S. E., Doebley, J., Kresovich, S., Goodman, M. M., & Buckler, E. S. (2005) · The Plant Journal · doi:10.1111/j.1365-313x.2005.02591.x · Cited by 916 · see citing works
The effects of human population structure on large genetic association studies
Marchini, J., Cardon, L. R., Phillips, M. S., & Donnelly, P. (2004) · Nature Genetics · doi:10.1038/ng1337 · Cited by 869 · see citing works
Chumakov, I., Blumenfeld, M., Guerassimenko, O., Cavarec, L., Palicio, M., Abderrahim, H., Bougueleret, L., Barry, C., Tanaka, H., Rosa, P. L., et al. (2002) · Proceedings of the National Academy of Sciences of the United States of America · doi:10.1073/pnas.182412499 · Cited by 541 · see citing works
Social supports and serotonin transporter gene moderate depression in maltreated children
Kaufman, J., Yang, B., Douglas-Palumberi, H., Houshyar, S., Lipschitz, D. S., Krystal, J. H., & Gelernter, J. E. (2004) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0404376101 · Cited by 801 · see citing works
Assessing the impact of population stratification on genetic association studies
Freedman, M., Reich, D., Penney, K., McDonald, G., Mignault, A. A., Patterson, N., Gabriel, S., Topol, E., Smoller, J., Pato, C., et al. (2004) · Nature Genetics · doi:10.1038/ng1333 · Cited by 843 · see citing works
Informativeness of Genetic Markers for Inference of Ancestry*
Rosenberg, N. A., Li, L. M., Ward, R. H., & Pritchard, J. K. (2003) · The American Journal of Human Genetics · doi:10.1086/380416 · Cited by 710 · see citing works
Self-citationKaufman, J., Yang, B.-Z., Douglas-Palumberi, H., Grasso, D., Lipschitz, D., Houshyar, S., Krystal, J. H., & Gelernter, J. (2006) · Biological Psychiatry · doi:10.1016/j.biopsych.2005.10.026 · Cited by 692 · see citing works
Interpreting principal component analyses of spatial population genetic variation
Novembre, J., & Stephens, M. (2008) · Nature Genetics · doi:10.1038/ng.139 · Cited by 663 · see citing works
A Genome-Wide Association Study of Psoriasis and Psoriatic Arthritis Identifies New Disease Loci
Liu, Y., Helms, C. A., Liao, W. J., Zaba, L. C., Duan, S., Gardner, J. M., Wise, C. A., Miner, A. G., Malloy, M. J., Pullinger, C. R., et al. (2008) · PLoS Genetics · doi:10.1371/journal.pgen.1000041 · Cited by 660 · see citing works
A method for meta-analysis of molecular association studies
Thakkinstian, A., McElduff, P., D’Este, C. A., Duffy, D. L., & Attia, J. (2004) · Statistics in Medicine · doi:10.1002/sim.2010 · Cited by 615 · see citing works
A Functional Polymorphism in the COMT Gene and Performance on a Test of Prefrontal Cognition
Malhotra, A. K., Kestler, L. J., Mazzanti, C. M., Bates, J. A., Goldberg, T. E., & Goldman, D. A. (2002) · American Journal of Psychiatry · doi:10.1176/appi.ajp.159.4.652 · Cited by 612 · see citing works
Cordell, H. J., & Clayton, D. G. (2005) · The Lancet · doi:10.1016/s0140-6736(05)67424-7 · Cited by 587 · see citing works
Yamada, N., Yamaya, M., Okinaga, S., Nakayama, K., Sekizawa, K., Shibahara, S., & Sasaki, H. (2000) · The American Journal of Human Genetics · doi:10.1086/302729 · Cited by 559 · see citing works
DNA Pooling: a tool for large-scale association studies
Sham, P. C., Bader, J. S., Craig, I., O’Donovan, M. C., & Owen, M. J. (2002) · Nature Reviews Genetics · doi:10.1038/nrg930 · Cited by 549 · see citing works
Revealing the architecture of gene regulation: the promise of eQTL studies
Gilad, Y., Rifkin, S. A., & Pritchard, J. K. (2008) · Trends in Genetics · doi:10.1016/j.tig.2008.06.001 · Cited by 531 · see citing works
Self-citationSmall, K. M., Wagoner, L. E., Levin, A. M., Kardia, S. L. R., & Liggett, S. B. (2002) · New England Journal of Medicine · doi:10.1056/nejmoa020803 · Cited by 524 · see citing works
The Bayesian revolution in genetics
Beaumont, M., & Rannala, B. H. (2004) · Nature Reviews Genetics · doi:10.1038/nrg1318 · Cited by 521 · see citing works
Genomic Control, a New Approach to Genetic-Based Association Studies
Devlin, B., Roeder, K., & Wasserman, L. (2001) · Theoretical Population Biology · doi:10.1006/tpbi.2001.1542 · Cited by 511 · see citing works
Implications of biogeography of human populations for 'race' and medicine
Tishkoff, S., & Kidd, K. (2004) · Nature Genetics · doi:10.1038/ng1438 · Cited by 468 · see citing works
Ascertainment bias in studies of human genome-wide polymorphismPreprint
Clark, A. G., Hubisz, M. J., Bustamante, C. D., Williamson, S., & Nielsen, R. (2005) · Genome Research · doi:10.1101/gr.4107905 · Cited by 503 · see citing works
Association genetics of complex traits in conifers
Neale, D. B., & Savolainen, O. (2004) · Trends in Plant Science · doi:10.1016/j.tplants.2004.05.006 · Cited by 500 · see citing works
Hu, X., Oroszi, G., Chun, J., Smith, T. L., Goldman, D. A., & Schuckit, M. A. (2005) · Alcoholism Clinical and Experimental Research · doi:10.1097/01.alc.0000150008.68473.62 · Cited by 478 · see citing works
Peacock, M., Turner, C. H., Econs, M. J., & Foroud, T. (2002) · Endocrine Reviews · doi:10.1210/edrv.23.3.0464 · Cited by 461 · see citing works
A High-Density Admixture Map for Disease Gene Discovery in African Americans
Smith, M. W., Patterson, N., Lautenberger, J. A., Truelove, A. L., McDonald, G. J., Waliszewska, A., Kessing, B. D., Malasky, M. J., Scafe, C., Le, E., et al. (2004) · The American Journal of Human Genetics · doi:10.1086/420856 · Cited by 459 · see citing works
Association studies for finding cancer-susceptibility genetic variants
Pharoah, P. D. P., Dunning, A. M., Ponder, B. A. J., & Easton, D. F. (2004) · Nature reviews. Cancer · doi:10.1038/nrc1476 · Cited by 456 · see citing works
Population Structure and Cryptic Relatedness in Genetic Association Studies
Astle, W. J., & Balding, D. J. (2009) · Statistical Science · doi:10.1214/09-sts307 · Cited by 455 · see citing works
Comparison of FST outlier tests for SNP loci under selection
Narum, S. R., & Hess, J. E. (2011) · Molecular Ecology Resources · doi:10.1111/j.1755-0998.2011.02987.x · Cited by 452 · see citing works
Demonstrating stratification in a European American population
Campbell, C. D., Ogburn, E. L., Lunetta, K. L., Lyon, H. N., Freedman, M. L., Groop, L. C., Altshuler, D., Ardlie, K. G., & Hirschhorn, J. N. (2005) · Nature Genetics · doi:10.1038/ng1607 · Cited by 444 · see citing works
Influence of mode of delivery on gut microbiota composition in seven year old children: Table 1
Salminen, S., Gibson, G. R., McCartney, A. L., & Isolauri, E. (2004) · Gut · doi:10.1136/gut.2004.041640 · Cited by 435 · see citing works
Haplotypes vs single marker linkage disequilibrium tests: what do we gain?
Akey, J. M., Li, J., & Xiong, M. (2001) · European Journal of Human Genetics · doi:10.1038/sj.ejhg.5200619 · Cited by 435 · see citing works
Fallin, M. D., Cohen, A., Essioux, L., Chumakov, I. M., BLUMENFELD, M. L., Cohen, D., & Schork, N. J. (2001) · Genome Research · doi:10.1101/gr.148401 · Cited by 417 · see citing works
Kilpatrick, D. G., Koenen, K. C., Ruggiero, K. J., Acierno, R. E., Galea, S., Resnick, H. S., Roitzsch, J. C., Boyle, J. M., & Gelernter, J. E. (2007) · American Journal of Psychiatry · doi:10.1176/appi.ajp.2007.06122007 · Cited by 405 · see citing works
Linkage disequilibrium and the search for complex disease genes.Preprint
Jorde, L. (2000) · Genome Research · doi:10.1101/gr.144500 · Cited by 422 · see citing works
Common Kibra Alleles Are Associated with Human Memory Performance
Papassotiropoulos, A., Stephan, D. A., Huentelman, M. J., Hoerndli, F. J., Craig, D. W., Pearson, J. V., Huynh, K.-D., Brunner, F., Corneveaux, J. J., Osborne, D., et al. (2006) · Science · doi:10.1126/science.1129837 · Cited by 402 · see citing works
Case–Control Studies of Association in Structured or Admixed Populations
Pritchard, J. K., & Donnelly, P. (2001) · Theoretical Population Biology · doi:10.1006/tpbi.2001.1543 · Cited by 397 · see citing works
Self-citationPoint: population stratification: a problem for case-control studies of candidate-gene associations?
Thomas, D. C., & Witte, J. S. (2002) · PubMed · Cited by 391 · see citing works
Kochi, Y., Yamada, R., Suzuki, A., Harley, J. B., Shirasawa, S., Sawada, T., Bae, S., Tokuhiro, S., Chang, X., Sekine, A., et al. (2005) · Nature Genetics · doi:10.1038/ng1540 · Cited by 390 · see citing works
Patterns of human genetic diversity: implications for human evolutionary history and disease.
Tishkoff, S., & Verrelli, B. (2003) · Annual review of genomics and human genetics (Print) · doi:10.1146/annurev.genom.4.070802.110226 · Cited by 408 · see citing works
Bacillary dysentery as a causative factor of irritable bowel syndrome and its pathogenesis
Wang, L.-H., Fang, X.-C., & Pan, G.-Z. (2004) · Gut · doi:10.1136/gut.2003.021154 · Cited by 387 · see citing works
Plant molecular diversity and applications to genomics
Buckler, E. S., & Thornsberry, J. M. (2002) · Current Opinion in Plant Biology · doi:10.1016/s1369-5266(02)00238-8 · Cited by 375 · see citing works
QMSim: a large-scale genome simulator for livestock
Sargolzaei, M., & Schenkel, F. S. (2009) · Bioinformatics · doi:10.1093/bioinformatics/btp045 · Cited by 374 · see citing works
Stolk, L., Perry, J. R. B., Chasman, D. I., He, C., Mangino, M., Sulem, P., Barbalić, M., Broer, L., Byrne, E. M., Ernst, F. D., et al. (2012) · Nature Genetics · doi:10.1038/ng.1051 · Cited by 368 · see citing works
Bellizzi, D., Rose, G., Cavalcante, P., Covello, G., Dato, S., De Rango, F., Greco, V., Maggiolini, M., Feraco, E., Mari, V., et al. (2005) · Genomics · doi:10.1016/j.ygeno.2004.11.003 · Cited by 367 · see citing works
Burchard, E. G., Borrell, L., Choudhry, S., Naqvi, M., Tsai, H.-J., Rodriguez-Santana, J., Chapela, R., Rogers, S. D., Mei, R., Rodriguez-Cintron, W., et al. (2005) · American Journal of Public Health · doi:10.2105/ajph.2005.068668 · Cited by 385 · see citing works
A general framework for multiple testing dependence
Leek, J. T., & Storey, J. D. (2008) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0808709105 · Cited by 365 · see citing works
The molecular genetic architecture of human personality: beyond self-report questionnaires
Ebstein, R. P. (2006) · Molecular Psychiatry · doi:10.1038/sj.mp.4001814 · Cited by 362 · see citing works
Increased risk of incident HIV during pregnancy in Rakai, Uganda: a prospective study
Gray, R. H., Li, X., Kigozi, G., Serwadda, D., Brahmbhatt, H., Wabwire‐Mangen, F., Nalugoda, F. K., Kiddugavu, M., Sewankambo, N. K., Quinn, T. C., et al. (2005) · The Lancet · doi:10.1016/s0140-6736(05)67481-8 · Cited by 357 · see citing works
Yamaguchi‐Kabata, Y., Nakazono, K., Takahashi, A., Saito, S., Hosono, N., Kubo, M., Nakamura, Y., & Kamatani, N. (2008) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2008.08.019 · Cited by 348 · see citing works
Reliability of Genomic Predictions Across Multiple Populations
de Roos, A. P. W., Hayes, B. J., & Goddard, M. E. (2009) · Genetics · doi:10.1534/genetics.109.104935 · Cited by 344 · see citing works
Sen, S., Nesse, R. M., Stoltenberg, S. F., Li, S., Gleiberman, L., Chakravarti, A., Weder, A. B., & Burmeister, M. (2002) · Neuropsychopharmacology · doi:10.1038/sj.npp.1300053 · Cited by 331 · see citing works
Interaction of FKBP5 with childhood adversity on risk for post-traumatic stress disorder
Xie, P., Kranzler, H. R., Poling, J., Stein, M. B., Anton, R. F., Farrer, L. A., & Gelernter, J. (2010) · Neuropsychopharmacology · doi:10.1038/npp.2010.37 · Cited by 327 · see citing works
Trimming, Weighting, and Grouping SNPs in Human Case-Control Association StudiesPreprint
Hoh, J. J., Wille, A., & Ott, J. (2001) · Genome Research · doi:10.1101/gr.204001 · Cited by 316 · see citing works
A Genomewide Association Study of Skin Pigmentation in a South Asian Population
Stokowski, R. P., Pant, P. V. K., Dadd, T., Fereday, A., Hinds, D. A., Jarman, C., Filsell, W., Ginger, R. S., Green, M. R., van der Ouderaa, F. J., et al. (2007) · The American Journal of Human Genetics · doi:10.1086/522235 · Cited by 315 · see citing works
Association mapping of yield and its components in rice cultivars
Agrama, H. A., Eizenga, G. C., & Yan, W. (2007) · Molecular Breeding · doi:10.1007/s11032-006-9066-6 · Cited by 315 · see citing works
Goldstein, D. B., Tate, S. K., & Sisodiya, S. M. (2003) · Nature Reviews Genetics · doi:10.1038/nrg1229 · Cited by 312 · see citing works
Chen, Y., Lin, S., Lin, M., Tsai, H.-L., Kuo, S.-S., Chen, J., Charng, M., Wu, T.-C., Chen, L.-C., Ding, P. Y. A., et al. (2002) · Human Genetics · doi:10.1007/s00439-002-0769-4 · Cited by 309 · see citing works
Genetics of Crohn disease, an archetypal inflammatory barrier disease
Schreiber, S., Rosenstiel, P. C., Albrecht, M., Hampe, J., & Krawczak, M. (2005) · Nature Reviews Genetics · doi:10.1038/nrg1607 · Cited by 306 · see citing works
Inference in Molecular Population Genetics
Stephens, M., & Donnelly, P. (2000) · Journal of the Royal Statistical Society Series B (Statistical Methodology) · doi:10.1111/1467-9868.00254 · Cited by 301 · see citing works
Leschziner, G. D., Andrew, T., Pirmohamed, M., & Johnson, M. R. (2006) · The Pharmacogenomics Journal · doi:10.1038/sj.tpj.6500413 · Cited by 299 · see citing works
Pharmacogenetics of Psychotropic Drug Response
Malhotra, A. K., Murphy, G. M., & Kennedy, J. L. (2004) · American Journal of Psychiatry · doi:10.1176/appi.ajp.161.5.780 · Cited by 298 · see citing works
Galanter, J., Fernández-López, J. C., Gignoux, C. R., Barnholtz‐Sloan, J. S., Fernández–Rozadilla, C., Vía, M., Hidalgo‐Miranda, A., Contreras, A. V., Uribe-Figueroa, L., Raska, P., et al. (2012) · PLoS Genetics · doi:10.1371/journal.pgen.1002554 · Cited by 294 · see citing works
Lekman, M., Laje, G., Charney, D., Rush, A. J., Wilson, A. F., Sorant, A. J. M., Lipsky, R., Wisniewski, S. R., Manji, H., McMahon, F. J., et al. (2008) · Biological Psychiatry · doi:10.1016/j.biopsych.2007.10.026 · Cited by 284 · see citing works
Genetic association studies of complex traits: design and analysis issues
Newton‐Cheh, C., & Hirschhorn, J. N. (2005) · Mutation research. Fundamental and molecular mechanisms of mutagenesis · doi:10.1016/j.mrfmmm.2005.01.006 · Cited by 284 · see citing works
Topol, E. J., McCarthy, J. J., Gabriel, S., Moliterno, D. J., Rogers, W. J., Newby, L. K., Freedman, M., Metivier, J., Cannata, R., O’Donnell, C. J., et al. (2001) · Circulation · doi:10.1161/hc4701.100910 · Cited by 282 · see citing works
Is there a future for TNF promoter polymorphisms?
Bayley, J.-P., Ottenhoff, T. H. M., & Verweij, C. L. (2004) · Genes and Immunity · doi:10.1038/sj.gene.6364055 · Cited by 265 · see citing works
Better Memory and Neural Efficiency in Young Apolipoprotein E 4 Carriers
Mondadori, C. R. A., de Quervain, D. J. ‐., Buchmann, A., Mustovic, H., Wollmer, M. A., Schmidt, C. F., Boesiger, P., Hock, C., Nitsch, R. M., Papassotiropoulos, A., et al. (2006) · Cerebral Cortex · doi:10.1093/cercor/bhl103 · Cited by 265 · see citing works
Pfaff, C., Parra, E., Bonilla, C., Hiester, K., McKeigue, P., Kamboh, M., Hutchinson, R., Ferrell, R., Boerwinkle, E., & Shriver, M. (2001) · American Journal of Human Genetics · doi:10.1086/316935 · Cited by 271 · see citing works
Xie, P., Kranzler, H. R., Poling, J., Stein, M. B., Anton, R. F., Brady, K., Weiss, R. D., Farrer, L., & Gelernter, J. (2009) · Archives of General Psychiatry · doi:10.1001/archgenpsychiatry.2009.153 · Cited by 264 · see citing works
Association of Vitamin D Receptor Gene Polymorphisms with Childhood and Adult Asthma
Raby, B. A., Lazarus, R. M., Silverman, E. K., Lake, S., Lange, C., Wjst, M., & Weiss, S. T. (2004) · American Journal of Respiratory and Critical Care Medicine · doi:10.1164/rccm.200404-447oc · Cited by 263 · see citing works
Sookoian, S. C., Gemma, C., Gianotti, T. F., Burgueño, A. L., Castaño, G. O., & Pirola, C. J. (2008) · American Journal of Clinical Nutrition · doi:10.1093/ajcn/87.6.1606 · Cited by 262 · see citing works
Haplotype Block Structure and Its Applications to Association Studies: Power and Study Designs
Zhang, K., Calabrese, P. P., Nordborg, M., & Sun, F. (2002) · The American Journal of Human Genetics · doi:10.1086/344780 · Cited by 262 · see citing works
Kabbaj, H., Sall, A. T., Al-Abdallat, A. M., Geleta, M., Amri, A., Filali‐Maltouf, A., Belkadi, B., Ortiz, R. O., & Bassi, F. M. (2017) · Frontiers in Plant Science · doi:10.3389/fpls.2017.01277 · Cited by 257 · see citing works
Population structure and long-range linkage disequilibrium in a durum wheat elite collection
Maccaferri, M., Sanguineti, M. C., Noli, E., & Tuberosa, R. (2005) · Molecular Breeding · doi:10.1007/s11032-004-7012-z · Cited by 256 · see citing works
Wacholder, S., Rothman, N., & Caporaso, N. E. (2002) · PubMed · Cited by 255 · see citing works
Stein, M. B., Schork, N. J., & Gelernter, J. (2008) · Neuropsychopharmacology · doi:10.1038/sj.npp.1301422 · Cited by 247 · see citing works
Genome-Wide and Candidate Gene Association Study of Cigarette Smoking Behaviors
Caporaso, N. E., Gu, F., Chatterjee, N., Jin, S. C., Yu, K., Yeager, M., Chen, C., Jacobs, K. B., Wheeler, W., Landi, M. T., et al. (2009) · PLoS ONE · doi:10.1371/journal.pone.0004653 · Cited by 246 · see citing works
Satten, G., Flanders, W., & Yang, Q.-H. (2001) · American Journal of Human Genetics · doi:10.1086/318195 · Cited by 249 · see citing works
Transforming Growth Factor-β1 Promoter Polymorphism C–509T Is Associated with Asthma
Silverman, E. S., Palmer, L. J., Subramaniam, V., Hallock, A., Mathew, S. I., Vallone, J., Faffe, D. S., Shikanai, T., Raby, B. A., Weiss, S. T., et al. (2003) · American Journal of Respiratory and Critical Care Medicine · doi:10.1164/rccm.200307-973oc · Cited by 245 · see citing works
Flores-Villanueva, P. O., Ruiz-Morales, J. A., Song, C., Flores, L. M., Jo, E., Montaño, M., Barnes, P. F., Selman, M., & Granados, J. (2005) · The Journal of Experimental Medicine · doi:10.1084/jem.20050126 · Cited by 241 · see citing works
Lerer, B. (2002) · Neuropsychopharmacology · doi:10.1016/s0893-133x(02)00293-2 · Cited by 239 · see citing works
Garris, A. J., McCouch, S. R., & Kresovich, S. (2003) · Genetics · doi:10.1093/genetics/165.2.759 · Cited by 236 · see citing works
Shaking the tree: mapping complex disease genes with linkage disequilibrium
Palmer, L. J., & Cardon, L. R. (2005) · The Lancet · doi:10.1016/s0140-6736(05)67485-5 · Cited by 234 · see citing works
- Authors
- Pritchard, J. K., & Rosenberg, N. A.
- Affiliations
- University of Oxford (GB)
- Stanford University (US)
- Corresponding author
- Pritchard, Jonathan K.
- Venue
- The American Journal of Human Genetics
- Publisher
- Elsevier BV
- Published
- 1999-07
- Volume
- 65
- Issue
- 1
- Pages
- 220-228
- ISSN
- 0002-9297 (ISSN-L)
- PMC
- PMC1378093
- OpenAlex
- W2116329478
- Cited by
- 1,198
- References
- 27
- Citations by year
- 2026: 9 · 2025: 3 · 2024: 9 · 2023: 6 · 2022: 3 · 2021: 9 · 2020: 13 · 2019: 49 · 2018: 21 · 2017: 12 · 2016: 22 · 2015: 27 · 2014: 28 · 2013: 42 · 2012: 46
- FWCI
- 27.14
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- Locations
- The American Journal of Human Genetics (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Funders
- National Institutes of Health
- National Defense Science and Engineering Graduate
- National Institute of General Medical Sciences (GM19634, GM 28428, F32GM019634, P01GM028428)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Forensic and Genetic Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic diversity and population structure
- Keywords
- population stratification, association mapping, case-control study, spurious association, admixture, population structure
- MeSH terms
- Alleles, Genetic Markers, Genotype, Humans, Genetic Linkage, Models, Genetic, Research Design, Case-Control Studies
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review