Discerning the ancestry of European Americans in genetic association studies
Open accessAbstract
European Americans are often treated as a homogeneous group, but in fact form a structured population due to historical immigration of diverse source populations. Discerning the ancestry of European Americans genotyped in association studies is important in order to prevent false-positive or false-negative associations due to population stratification and to identify genetic variants whose contribution to disease risk differs across European ancestries. Here, we investigate empirical patterns of population structure in European Americans, analyzing 4,198 samples from four genome-wide association studies to show that components roughly corresponding to northwest European, southeast European, and Ashkenazi Jewish ancestry are the main sources of European American population structure. Building on this insight, we constructed a panel of 300 validated markers that are highly informative for distinguishing these ancestries. We demonstrate that this panel of markers can be used to correct for stratification in association studies that do not generate dense genotype data.
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The false positive association between the LCT locus and skin pigmentation mirrors the false positive association found between the LCT locus and height.
“This false positive association between the LCT locus and skin pigmentation mirrors the false positive association found between the LCT locus and height [31], [32].”
From Genome-Wide Association Studies of Quantitatively Measured Skin, Hair, and Eye Pigmentation in Four European Populations (2012) · cites this paper as [32]
Previous studies have shown that more than 1,000 ancestry-informative markers are needed to derive the first two genetic PCs of European structure adequately representing the North/South and East/West axes of differentiation.
“Previous studies have shown that more than 1,000 ancestry-informative markers are needed to derive the first two genetic PCs of European structure adequately representing the North/South and East/West axes of differentiation [32], [48].”
From Genome-Wide Association Studies of Quantitatively Measured Skin, Hair, and Eye Pigmentation in Four European Populations (2012) · cites this paper as [32]
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Cites
Principal components analysis corrects for stratification in genome-wide association studies
Price, A. L., Patterson, N. J., Plenge, R. M., Weinblatt, M. E., Shadick, N. A., & Reich, D. (2006) · Nature Genetics · doi:10.1038/ng1847 · Cited by 10,248 · see citing works
Self-citationGenome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls
The Wellcome Trust Case Control Consortium, Management Committee, Burton, P. R., Clayton, D. G., Cardon, L. R., Craddock, N., Deloukas, P., Duncanson, A., Kwiatkowski, D. P., McCarthy, M. I., et al. (2007) · Nature · doi:10.1038/nature05911 · Cited by 9,442 · see citing works
A haplotype map of the human genome
The International HapMap Consortium (2005) · Nature · doi:10.1038/nature04226 · Cited by 5,858 · see citing works
Population Structure and Eigenanalysis
Patterson, N., Price, A. L., & Reich, D. (2006) · PLoS Genetics · doi:10.1371/journal.pgen.0020190 · Cited by 5,280 · see citing works
Self-citationThe 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
Genomic Control for Association Studies
Devlin, B., & Roeder, K. (1999) · Biometrics · doi:10.1111/j.0006-341x.1999.00997.x · Cited by 3,162 · see citing works
A Genome-Wide Association Study Identifies <i>IL23R</i> as an Inflammatory Bowel Disease Gene
Duerr, R. H., Taylor, K. D., Brant, S. R., Rioux, J. D., Silverberg, M. S., Daly, M. J., Steinhart, A. H., Abraham, C., Regueiro, M., Griffiths, A., et al. (2006) · Science · doi:10.1126/science.1135245 · Cited by 3,039 · see citing works
A Map of Recent Positive Selection in the Human Genome
Voight, B. F., Kudaravalli, S., Wen, X., & Pritchard, J. K. (2006) · PLoS Biology · doi:10.1371/journal.pbio.0040072 · Cited by 2,912 · 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
The common PPARγ Pro12Ala polymorphism is associated with decreased risk of type 2 diabetes
Altshuler, D., Hirschhorn, J. N., Klannemark, M., Lindgren, C. M., Vohl, M.-C., Nemesh, J., Lane, C. R., Schaffner, S. F., Bolk, S., Brewer, C., et al. (2000) · Nature Genetics · doi:10.1038/79216 · Cited by 1,766 · see citing works
Self-citationSLC24A5, a putative cation exchanger, affects pigmentation in zebrafish and humans
Lamason, R. L., Mohideen, M.-A. P. K., Mest, J. R., Wong, A. C., Norton, H. L., Aros, M. C., Jurynec, M. J., Mao, X., Humphreville, V. R., Humbert, J. E., et al. (2005) · Science · doi:10.1126/science.1116238 · Cited by 1,043 · see citing works
Synthetic Maps of Human Gene Frequencies in Europeans
Menozzi, P., Piazza, A., & Cavalli-Sforza, L. L. (1978) · Science · doi:10.1126/science.356262 · Cited by 639 · see citing works
Clayton, D. G., Walker, N. M., Smyth, D. J., Pask, R., Cooper, J. D., Maier, L. M., Smink, L. J., Lam, A. C., Ovington, N. R., Stevens, H. E., et al. (2005) · Nature Genetics · doi:10.1038/ng1653 · Cited by 526 · see citing works
Control of confounding of genetic associations in stratified populations
Hoggart, C. J., Parra, E. J., Shriver, M. D., Bonilla, C., Kittles, R. A., Clayton, D. G., & McKeigue, P. M. (2003) · The American Journal of Human Genetics · doi:10.1086/375613 · Cited by 490 · see citing works
Population genetic structure of variable drug response
Wilson, J. F., Weale, M. E., Smith, A. C., Gratrix, F., Fletcher, B., Thomas, M., Bradman, N. N., & Goldstein, D. B. (2001) · Nature Genetics · doi:10.1038/ng761 · Cited by 460 · see citing works
Self-citationA 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
Self-citationDemonstrating 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
Self-citationFung, H. C., Scholz, S. W., Matarin, M., Simón-Sánchez, J., Hernandez, D., Britton, A., Gibbs, J. R., Langefeld, C., Stiegert, M. L., Schymick, J., et al. (2006) · Lancet Neurology · doi:10.1016/s1474-4422(06)70578-6 · Cited by 428 · see citing works
Familial empirical risks for inflammatory bowel disease: differences between Jews and non-Jews.
Yang, H., McElree, C. K., Roth, M., Shanahan, F., Targan, S. R., & Rotter, J. I. (1993) · Gut · doi:10.1136/gut.34.4.517 · Cited by 367 · see citing works
Chip-based genotyping by mass spectrometry.
Tang, K., Fu, D.-J., Julien, D., Braun, A., Cantor, C., & Köster, H. (1999) · Proceedings of the National Academy of Sciences of the United States of America · doi:10.1073/pnas.96.18.10016 · Cited by 263 · see citing works
European Population Substructure: Clustering of Northern and Southern Populations
Seldin, M. F., Shigeta, R., Villoslada, P., Selmi, C. F., Tuomilehto, J., SILVA, G. H. D. O., Belmont, J. W., Klareskog, L., & Gregersen, P. K. (2005) · PLoS Genetics · doi:10.1371/journal.pgen.0020143 · Cited by 234 · see citing works
Simón‐Sánchez, J., Scholz, S. W., Fung, H., Matarín, M., Hernandez, D. G., Gibbs, J. R., Britton, A. F., Vrieze, F. W. D., Peckham, E. L., Gwinn, K. A., et al. (2006) · Human Molecular Genetics · doi:10.1093/hmg/ddl436 · Cited by 228 · see citing works
Menotti, A., Lanti, M., Puddu, P. E., & Kromhout, D. (2000) · Heart · doi:10.1136/heart.84.3.238 · Cited by 224 · see citing works
Lactase haplotype diversity in the Old World.
Hollox, E., Poulter, M., Zvarík, M., Ferák, V., Krause, A., Jenkins, T., Saha, N., Kozlov, A., & Swallow, D. (2001) · American Journal of Human Genetics · doi:10.1086/316924 · Cited by 188 · see citing works
A genetic profile of contemporary Jewish populations
D, H. O. M. (2001) · Nature Reviews Genetics · doi:10.1038/35098506 · Cited by 185 · see citing works
Measuring European Population Stratification with Microarray Genotype Data
Bauchet, M., McEvoy, B., Pearson, L. N., Quillen, E. E., Sarkisian, T., Hovhannesyan, K., Deka, R., Bradley, D. G., & Shriver, M. D. (2007) · The American Journal of Human Genetics · doi:10.1086/513477 · Cited by 163 · see citing works
Sequences associated with human iris pigmentation
Frudakis, T., Thomas, M., Gaskin, Z., Venkateswarlu, K., Chandra, K. S., Ginjupalli, S., Gunturi, S., Natrajan, S., Ponnuswamy, V. K., & Ponnuswamy, K. N. (2003) · Genetics · doi:10.1093/genetics/165.4.2071 · Cited by 153 · see citing works
Large-scale SNP analysis reveals clustered and continuous patterns of human genetic variation
Shriver, M. D., Mei, R., Parra, E. J., Sonpar, V. A., Halder, I., Tishkoff, S. A., Schurr, T. G., Zhadanov, S. I., Osipova, L. P., Brutsaert, T. D., et al. (2005) · Human Genomics · doi:10.1186/1479-7364-2-2-81 · Cited by 150 · see citing works
A Simple and Improved Correction for Population Stratification in Case-Control Studies
Epstein, M. P., Allen, A. S., & Satten, G. A. (2007) · The American Journal of Human Genetics · doi:10.1086/516842 · Cited by 143 · see citing works
RISCH, N. J., Tang, H., Katzenstein, H. M., & Ekstein, J. (2003) · The American Journal of Human Genetics · doi:10.1086/373882 · Cited by 140 · see citing works
Contribution of Factor VII Genotype to Activated FVII Levels
Bernardi, F., Arcieri, P., Bertina, R. M., Chiarotti, F., Corral, J., Pinotti, M., Prydz, H., Samama, M. M., Sandset, P. M., Strom, R., et al. (1997) · Arteriosclerosis Thrombosis and Vascular Biology · doi:10.1161/01.atv.17.11.2548 · Cited by 90 · see citing works
Population Structure in the Mediterranean Basin: A Y Chromosome Perspective
Capelli, C., Redhead, N., Romano, V., Calı̀, F., Lefranc, G., Delague, V., Mégarbané, A., Felice, A. E., Pascali, V. L., Neophytou, P. I., et al. (2005) · Annals of Human Genetics · doi:10.1111/j.1529-8817.2005.00224.x · Cited by 71 · see citing works
Self-citationGe, F. (2001) · PubMed · Cited by 36 · see citing works
Panza, F. (2003) · Journal of Neurology Neurosurgery & Psychiatry · doi:10.1136/jnnp.74.8.1159 · Cited by 29 · see citing works
Analysis of PRNP Gene Codon 129 Polymorphism in the Greek Population
Saetta, A. A., Michalopoulos, N. V., Malamis, G., Papanastasiou, P. I., Mazmanian, N., Κάρλου, Μ., Kouzoupis, A. V., Korkolopoulou, P. A., & Patsouris, E. (2006) · European Journal of Epidemiology · doi:10.1007/s10654-006-0012-z · Cited by 11 · see citing works
Self-citation
Flagged first, then by citations
Research works printed but not linked: 1
- Feldman GE (2001) Do Ashkenazi Jews have a higher than expected cancer burden? Israel Medical Association Journal 3: 341-346.
Cited by
Sorted by citations
Fast model-based estimation of ancestry in unrelated individuals
Alexander, D. H., Novembre, J., & Lange, K. (2009) · Genome Research · doi:10.1101/gr.094052.109 · Cited by 9,898 · see citing works
Genome-wide association studies for complex traits: consensus, uncertainty and challenges
McCarthy, M. I., Abecasis, G. R., Cardon, L. R., Goldstein, D. B., Little, J., Ioannidis, J. P. A., & Hirschhorn, J. N. (2008) · Nature Reviews Genetics · doi:10.1038/nrg2344 · Cited by 2,891 · see citing works
Self-citationVisscher, P. M., Brown, M. A., McCarthy, M. I., & Yang, J. (2012) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2011.11.029 · Cited by 2,425 · see citing works
Benefits and limitations of genome-wide association studies
Tam, V., Patel, N. K., Turcotte, M., Bossé, Y., Paré, G., & Meyre, D. (2019) · Nature Reviews Genetics · doi:10.1038/s41576-019-0127-1 · Cited by 2,092 · see citing works
Diamanti-Kandarakis, E., & Dunaif, A. (2012) · Endocrine Reviews · doi:10.1210/er.2011-1034 · Cited by 1,947 · see citing works
Genome-wide association study identifies five new schizophrenia loci
The Schizophrenia Psychiatric Genome-Wide Association Study (GWAS) Consortium (2011) · Nature Genetics · doi:10.1038/ng.940 · Cited by 1,919 · see citing works
Genes mirror geography within Europe
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. (2008) · Nature · doi:10.1038/nature07331 · Cited by 1,479 · see citing works
Speliotes, E. K., Yerges-Armstrong, L. M., Wu, J., Hernaez, R., Kim, L. J., Palmer, C. D., Gudnason, V., Eiriksdottir, G., Garcia, M. E., Launer, L. J., et al. (2011) · PLoS Genetics · doi:10.1371/journal.pgen.1001324 · Cited by 984 · see citing works
Self-citationPopulation differentiation as a test for selective sweepsPreprint
Chen, H., Patterson, N. J., & Reich, D. (2010) · Genome Research · doi:10.1101/gr.100545.109 · Cited by 888 · see citing works
Self-citationMYH9 is a major-effect risk gene for focal segmental glomerulosclerosis
Kopp, J. B., Smith, M. W., Nelson, G. W., Johnson, R. C., Freedman, B. I., Bowden, D. W., Oleksyk, T. K., McKenzie, L. M., Kajiyama, H., Ahuja, T. S., et al. (2008) · Nature Genetics · doi:10.1038/ng.226 · Cited by 701 · see citing works
Pitfalls of predicting complex traits from SNPs
Wray, N. R., Yang, J., Hayes, B. J., Price, A. L., Goddard, M. E., & Visscher, P. M. (2013) · Nature Reviews Genetics · doi:10.1038/nrg3457 · Cited by 672 · see citing works
Self-citationAn overview of STRUCTURE: applications, parameter settings, and supporting software
Porras-Hurtado, L., Ruíz, Y., Santos, C., Phillips, C., Carracedo, Á., & Lareu, M. V. (2013) · Frontiers in Genetics · doi:10.3389/fgene.2013.00098 · Cited by 610 · see citing works
Identification of ten loci associated with height highlights new biological pathways in human growth
Initiative, T. D. G., Lettre, G., FUSION, KORA, The Prostate, L. C. A. O. C. S. T., Study, T. N. H., SardiNIA, Jackson, A., Gieger, C., Schumacher, F. R., et al. (2008) · Nature Genetics · doi:10.1038/ng.125 · Cited by 583 · see citing works
Self-citationThe fine-scale genetic structure of the British population
Leslie, S., WINNEY, B. J., Hellenthal, G., Davison, D., Boumertit, A., Day, T., Hutnik, K., Røyrvik, E. C., Cunliffe, B. W., Lawson, D. J., et al. (2015) · Nature · doi:10.1038/nature14230 · Cited by 557 · see citing works
Kosoy, R., Nassir, R., Tian, C., White, P. A., Butler, L. M., SILVA, G. H. D. O., Kittles, R. A., Alarcón-Riquelme, M. E., Gregersen, P. K., Belmont, J. W., et al. (2008) · Human Mutation · doi:10.1002/humu.20822 · Cited by 537 · see citing works
Correlation between Genetic and Geographic Structure in Europe
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. (2008) · Current Biology · doi:10.1016/j.cub.2008.07.049 · Cited by 503 · see citing works
LaFramboise, T. (2009) · Nucleic Acids Research · doi:10.1093/nar/gkp552 · Cited by 467 · see citing works
Genetic signatures of exceptional longevity in humans
Sebastiani, P., Solovieff, N., DeWan, A. T., Walsh, K. M., Puca, A., Hartley, S. W., Melista, E., Andersen, S., Dworkis, D. A., Wilk, J. B., et al. (2012) · PLoS ONE · doi:10.1371/journal.pone.0029848 · Cited by 464 · see citing works
Genetic Structure of Europeans: A View from the North–East
Nelis, M., Esko, T., Mägi, R., Zimprich, F., Zimprich, A. A., Toncheva, D. I., Karachanak-Yankova, S., Piskackova, T., Balaščák, I., Peltonen, L., et al. (2009) · PLoS ONE · doi:10.1371/journal.pone.0005472 · Cited by 425 · see citing works
The genome-wide structure of the Jewish people
Behar, D. M., Yunusbayev, B., Metspalu, M., Metspalu, E., Rosset, S., Parik, J., Rootsi, S., Chaubey, G., Kutuev, I. A., Yudkovsky, G., et al. (2010) · Nature · doi:10.1038/nature09103 · Cited by 407 · see citing works
Sidore, C., Busonero, F., Maschio, A., Porcu, E., Naitza, S., Żołędziewska, M., Mulas, A., Pistis, G., Steri, M., Danjou, F., et al. (2015) · Nature Genetics · doi:10.1038/ng.3368 · Cited by 376 · see citing works
Keating, B. J., Tischfield, S. E., Murray, S. S., Bhangale, T., Price, T. S., Glessner, J., Galver, L., Barrett, J. C., Grant, S. F. A., Farlow, D., et al. (2008) · PLoS ONE · doi:10.1371/journal.pone.0003583 · Cited by 370 · see citing works
Self-citationFast Principal-Component Analysis Reveals Convergent Evolution of ADH1B in Europe and East Asia
Galinsky, K. J., Bhatia, G., Loh, P., Georgiev, S., Mukherjee, S., Patterson, N. J., & Price, A. L. (2016) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2015.12.022 · Cited by 357 · see citing works
Self-citationAccounting for ancestry: population substructure and genome-wide association studies
Tian, C., Gregersen, P. K., & Seldin, M. F. (2008) · Human Molecular Genetics · doi:10.1093/hmg/ddn268 · Cited by 368 · see citing works
Speliotes, E. K., Butler, J. L., Palmer, C. D., Voight, B. F., & Hirschhorn, J. N. (2010) · Hepatology · doi:10.1002/hep.23768 · Cited by 362 · see citing works
Self-citationFujimura, J. H., & Rajagopalan, R. M. (2010) · Social Studies of Science · doi:10.1177/0306312710379170 · Cited by 349 · see citing works
Paré, G., Chasman, D. I., Kellogg, M., Zee, R. Y. L., Rifai, N., Badola, S., Miletich, J. P., & Ridker, P. M. (2008) · PLoS Genetics · doi:10.1371/journal.pgen.1000118 · Cited by 341 · see citing works
Recent Advances in the Genetics of Autoimmune Disease
Gregersen, P. K., & Olsson, L. M. (2008) · Annual Review of Immunology · doi:10.1146/annurev.immunol.021908.132653 · Cited by 337 · see citing works
Banda, Y., Kvale, M. N., Hoffmann, T. J., Hesselson, S., Ranatunga, D. K., Tang, H., Sabatti, C., Croen, L., Dispensa, B. P., Henderson, M., et al. (2015) · Genetics · doi:10.1534/genetics.115.178616 · Cited by 320 · see citing works
Elhaik, E. (2022) · Scientific Reports · doi:10.1038/s41598-022-14395-4 · Cited by 318 · see citing works
Exercise training and DNA methylation in humans
Voisin, S. A. C., Eynon, N., Yan, X., & Bishop, D. J. (2014) · Acta Physiologica · doi:10.1111/apha.12414 · Cited by 291 · see citing works
Large-Scale Gene-Centric Meta-Analysis across 39 Studies Identifies Type 2 Diabetes Loci
Saxena, R., Elbers, C. C., Guo, Y., Peter, I., Gaunt, T. R., Mega, J. L., Lanktree, M. B., Tare, A., Castillo, B. A., Li, Y. R., et al. (2012) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2011.12.022 · Cited by 268 · see citing works
Atzmon, G., Hao, L., Pe'er, I., Velez, C., Pearlman, A., Palamara, P. F., Morrow, B., Friedman, E., Oddoux, C., Burns, E., et al. (2010) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2010.04.015 · Cited by 260 · see citing works
European Ancestry as a Risk Factor for Atrial Fibrillation in African Americans
Marcus, G. M., Alonso, A., Peralta, C. A., Lettre, G., Vittinghoff, E., Lubitz, S. A., Fox, E. R., Levitzky, Y. S., Mehra, R., Kerr, K. F., et al. (2010) · Circulation · doi:10.1161/circulationaha.110.958306 · Cited by 255 · see citing works
Large-Scale Gene-Centric Meta-analysis across 32 Studies Identifies Multiple Lipid Loci
Asselbergs, F. W., Guo, Y., van Iperen, E. P. A., Sivapalaratnam, S., Tragante, V., Lanktree, M. B., Lange, L. A., Almoguera, B., Appelman, Y., Barnard, J., et al. (2012) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2012.08.032 · Cited by 247 · see citing works
Wijsman, E. M., Pankratz, N., Choi, Y., Rothstein, J. H., Faber, K. M., Cheng, R., Lee, J. H., Bird, T. D., Bennett, D. A., Diaz-Arrastia, R. R., et al. (2011) · PLoS Genetics · doi:10.1371/journal.pgen.1001308 · Cited by 223 · see citing works
Toll-Like Receptor Polymorphisms and Susceptibility to Urinary Tract Infections in Adult Women
Hawn, T. R., Scholes, D., Li, S. S., Wang, H., Yang, Y., Roberts, P. L., Stapleton, A. E., Janer, M., Aderem, A. A., Stamm, W. E., et al. (2009) · PLoS ONE · doi:10.1371/journal.pone.0005990 · Cited by 209 · see citing works
Paterson, A. D., Lopes-Virella, M. F., Waggott, D. M., Boright, A. P., Hosseini, S. M., Carter, R. E., Enqing, S., Mirea, L., Bharaj, B., Sun, L., et al. (2009) · Arteriosclerosis Thrombosis and Vascular Biology · doi:10.1161/atvbaha.109.192971 · Cited by 206 · see citing works
Population Substructure and Control Selection in Genome-Wide Association Studies
Yu, K. F., Wang, Z., Li, Q., Wacholder, S., Hunter, D. J., Hoover, R. N., Chanock, S. J., & Thomas, G. D. (2008) · PLoS ONE · doi:10.1371/journal.pone.0002551 · Cited by 202 · see citing works
Improved ancestry inference using weights from external reference panels
Chen, C., Pollack, S. J., Hunter, D. J., Hirschhorn, J. N., Kraft, P. L., & Price, A. L. (2013) · Bioinformatics · doi:10.1093/bioinformatics/btt144 · Cited by 185 · see citing works
Self-citationNovel loci and pathways significantly associated with longevity
Zeng, Y., Nie, C., Min, J., Liu, X., Li, M., Chen, H., Xu, H., Wang, M., Ni, T., Li, Y., et al. (2016) · Scientific Reports · doi:10.1038/srep21243 · Cited by 195 · see citing works
Carmi, S., Hui, K. Y., Kochav, E., Liu, X., Xue, J., Grady, F., Guha, S., Upadhyay, K., Ben-Avraham, D., Mukherjee, S., et al. (2014) · Nature Communications · doi:10.1038/ncomms5835 · Cited by 188 · see citing works
Nassir, R., Kosoy, R., Tian, C., White, P. A., Butler, L., Silva, G., Kittles, R., Alarcón-Riquelme, M., Gregersen, P., Belmont, J., et al. (2009) · BMC Genetics · doi:10.1186/1471-2156-10-39 · Cited by 174 · see citing works
Salmela, E., Lappalainen, T., Fransson, I., Andersen, P. M., Dahlman‐Wright, K., Fiebig, A., Sistonen, P., Savontaus, M., Schreiber, S., Kere, J., et al. (2008) · PLoS ONE · doi:10.1371/journal.pone.0003519 · Cited by 183 · see citing works
Genome-wide association study confirms extant PD risk loci among the Dutch
Simón‐Sánchez, J., van Hilten, J. J., van de Warrenburg, B. P. C., Post, B., Berendse, H. W., Arepalli, S., Hernandez, D. G., de Bie, R. M. A., Velseboer, D. C., Scheffer, H., et al. (2011) · European Journal of Human Genetics · doi:10.1038/ejhg.2010.254 · Cited by 178 · see citing works
Joehanes, R., Zhang, X., Huan, T., Yao, C., Ying, S., Nguyen, Q. T., Demirkale, C. Y., Feolo, M., Sharopova, N., Sturcke, A., et al. (2017) · Genome biology · doi:10.1186/s13059-016-1142-6 · Cited by 175 · see citing works
The Genome-wide Patterns of Variation Expose Significant Substructure in a Founder Population
Jakkula, E., Rehnström, K., Varilo, T., Pietiläinen, O. P. H., Paunio, T., Pedersen, N. L., DeFaire, U., Järvelin, M., Saharinen, J., Freimer, N. B., et al. (2008) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2008.11.005 · Cited by 161 · see citing works
Heath, S. C., Gut, I. G., Brennan, P., McKay, J., Bencko, V., Fabiánová, E., Foretová, L., Georges, M., Janout, V., Kabesch, M., et al. (2008) · European Journal of Human Genetics · doi:10.1038/ejhg.2008.210 · Cited by 160 · see citing works
A Genome-Wide Scan of Ashkenazi Jewish Crohn's Disease Suggests Novel Susceptibility Loci
Kenny, E. E., Pe’er, I., Karban, A. A., Ozelius, L. J., Mitchell, A. A., Ng, S. M. E., Erazo, M., D, H. O. M., Abraham, C., Abreu, M. T., et al. (2012) · PLoS Genetics · doi:10.1371/journal.pgen.1002559 · Cited by 153 · see citing works
Association of IFIH1 and other autoimmunity risk alleles with selective IgA deficiency
Ferreira, R. C., Pan‐Hammarström, Q., Graham, R., Gateva, V., Fontán, G., Lee, A. T., Ortmann, W. A., Urcelay, E., Fernández‐Arquero, M., Núñez, C., et al. (2010) · Nature Genetics · doi:10.1038/ng.644 · Cited by 150 · see citing works
Nurses transforming health care using genetics and genomics
Calzone, K. A., Cashion, A. K., FEETHAM, S. L., Jenkins, J., Prows, C. A., Williams, J. K., & Wung, S. (2010) · Nursing Outlook · doi:10.1016/j.outlook.2009.05.001 · Cited by 150 · see citing works
Genetic Signatures of Exceptional Longevity in Humans
Sebastiani, P., Solovieff, N., Puca, A., Hartley, S. W., Melista, E., Andersen, S., Dworkis, D. A., Wilk, J. B., Myers, R. H., Steinberg, M. H., et al. (2010) · Science · doi:10.1126/science.1190532 · Cited by 141 · see citing works
RetractedGenome-wide methylation data mirror ancestry information
Rahmani, E., Shenhav, L., Schweiger, R., Yousefi, P., Huen, K., Eskenazi, B., Eng, C. S., Huntsman, S., Hu, D., Galanter, J., et al. (2017) · Epigenetics & Chromatin · doi:10.1186/s13072-016-0108-y · Cited by 141 · see citing works
Brazilian urban population genetic structure reveals a high degree of admixture
Giolo, S. R., Soler, J. M. P., Greenway, S. C., Almeida, M., de Andrade, M., Seidman, J. G., Seidman, C. E., Krieger, J. E., & Pereira, A. C. (2011) · European Journal of Human Genetics · doi:10.1038/ejhg.2011.144 · Cited by 134 · see citing works
Mutharasan, P., Galdones, E., Bernabé, B. P., Garcia, O. A., Jafari, N., Shea, L. D., Woodruff, T. K., Legro, R. S., Dunaif, A. E., & Urbanek, M. (2012) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2012-2471 · Cited by 133 · see citing works
Lanktree, M. B., Guo, Y., Murtaza, M., Glessner, J., Bailey, S. D., Onland‐Moret, N. C., Lettre, G., Ongen, H., Rajagopalan, R., Johnson, T., et al. (2010) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2010.11.007 · Cited by 130 · see citing works
Meyers, K. J., Mares, J. A., Igo, R. P., Truitt, B. J., Liu, Z., Millen, A. E., Klein, R., Johnson, E. J., Engelman, C. D., Karki, C. K., et al. (2013) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.13-13216 · Cited by 132 · see citing works
Davies, R. W., Wells, G. A., Stewart, A. F. R., Erdmann, J., Shah, S. H., Ferguson, J. F., Hall, A. S., Anand, S. S., Burnett, M. S., Epstein, S. E., et al. (2012) · Circulation Cardiovascular Genetics · doi:10.1161/circgenetics.111.961243 · Cited by 127 · see citing works
Identifying modifier genes of monogenic disease: strategies and difficulties
Génin, E., Feingold, J., & Clerget-Darpoux, F. (2008) · Human Genetics · doi:10.1007/s00439-008-0560-2 · Cited by 126 · see citing works
Kurreeman, F. A. S., Liao, K. P., Chibnik, L. B., Hickey, B., Stahl, E. A., Gainer, V. S., Li, G., Bry, L., Mahan, S. P., Ardlie, K., et al. (2011) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2010.12.007 · Cited by 120 · see citing works
Self-citationCapasso, M., Diskin, S. J., Totaro, F., Longo, L., Mariano, M. D., Russo, R., Cimmino, F., Hakonarson, H. H., Tonini, G. P., Devoto, M., et al. (2012) · Carcinogenesis · doi:10.1093/carcin/bgs380 · Cited by 115 · see citing works
Nievergelt, C. M., Maihofer, A. X., Shekhtman, T., Libiger, O., Wang, X., Kídd, K. K., & Kidd, J. R. (2013) · Investigative Genetics · doi:10.1186/2041-2223-4-13 · Cited by 112 · see citing works
Analysis of East Asia Genetic Substructure Using Genome-Wide SNP Arrays
Tian, C., Kosoy, R., Lee, A., Ransom, M., Belmont, J. W., Gregersen, P. K., & Seldin, M. F. (2008) · PLoS ONE · doi:10.1371/journal.pone.0003862 · Cited by 113 · see citing works
Peyrot, W. J., & Price, A. L. (2021) · Nature Genetics · doi:10.1038/s41588-021-00787-1 · Cited by 106 · see citing works
Self-citationDetection of selective sweeps in structured populations: a comparison of recent methods
Vatsiou, A. I., Bazin, E., & Gaggiotti, O. E. (2016) · Molecular Ecology · doi:10.1111/mec.13360 · Cited by 111 · see citing works
Candille, S. I., Absher, D. M., Beleza, S., Bauchet, M., McEvoy, B., Garrison, N. A., Li, J. Z., Myers, R. M., Barsh, G. S., Tang, H., et al. (2012) · PLoS ONE · doi:10.1371/journal.pone.0048294 · Cited by 111 · see citing works
Clustering of 770,000 genomes reveals post-colonial population structure of North America
Han, E., Carbonetto, P. S., Curtis, R. E., Wang, Y., Granka, J. M., Byrnes, J., Noto, K., Kermany, A. R., Myres, N. M., Barber, M., et al. (2017) · Nature Communications · doi:10.1038/ncomms14238 · Cited by 103 · see citing works
The Impact of Divergence Time on the Nature of Population Structure: An Example from Iceland
Price, A. L., Helgason, A., Pálsson, S., Stefánsson, H., Clair, D. S., Andreassen, O. A., Reich, D., Kong, A., & Stefánsson, K. (2009) · PLoS Genetics · doi:10.1371/journal.pgen.1000505 · Cited by 99 · see citing works
Self-citationAncestry Composition: A Novel, Efficient Pipeline for Ancestry Deconvolution
Durand, E. Y., Do, C. B., Mountain, J. L., & Macpherson, J. M. (2014) · doi:10.1101/010512 · Cited by 108 · see citing works
A Genetic Risk Score Combining Ten Psoriasis Risk Loci Improves Disease Prediction
Chen, H., Poon, A., Yeung, C. H.-Y., Helms, C. A., Pons, J., Bowcock, A. M., Kwok, P., & Liao, W. J. (2011) · PLoS ONE · doi:10.1371/journal.pone.0019454 · Cited by 101 · see citing works
Tian, C., Kosoy, R., Nassir, R., Lee, A., Villoslada, P., Klareskog, L., Hammarström, L. L. G., Garchon, H., Pulver, A. E., Ransom, M., et al. (2009) · Molecular Medicine · doi:10.2119/molmed.2009.00094 · Cited by 98 · see citing works
No Evidence from Genome-Wide Data of a Khazar Origin for the Ashkenazi Jews
Behar, D. M., Metspalu, M., Baran, Y., Kopelman, N. M., Yunusbayev, B., Gladstein, A. L., Tzur, S., Sahakyan, H., Bahmanimehr, A., Yepiskoposyan, L., et al. (2013) · Human Biology · doi:10.3378/027.085.0604 · Cited by 95 · see citing works
The MYH9/APOL1 region and chronic kidney disease in European-Americans
O’Seaghdha, C. M., Parekh, R. S., Hwang, S., Li, M., Köttgen, A., Coresh, J., Yang, Q., Fox, C. S., & Kao, W. H. L. (2011) · Human Molecular Genetics · doi:10.1093/hmg/ddr118 · Cited by 95 · see citing works
Between Lake Baikal and the Baltic Sea: genomic history of the gateway to Europe
Tříska, P., Chekanov, N., Степанов, В. А., Хуснутдинова, Э. К., Kumar, G. P. A., Akhmetova, V. R., Babalyan, K., Boulygina, E., Харьков, В. Н., Gubina, M. A., et al. (2017) · BMC Genetics · doi:10.1186/s12863-017-0578-3 · Cited by 96 · see citing works
Geographical structure and differential natural selection among North European populationsPreprint
McEvoy, B. P., Montgomery, G., McRae, A. F., Ripatti, S., Perola, M., Spector, T. D., Cherkas, L., Ahmadi, K. R., Boomsma, D., Willemsen, G., et al. (2009) · Genome Research · doi:10.1101/gr.083394.108 · Cited by 95 · see citing works
Decoding an olfactory mechanism of kin recognition and inbreeding avoidance in a primate
Boulet, M., Charpentier, M. J. E., & Drea, C. M. (2009) · BMC Evolutionary Biology · doi:10.1186/1471-2148-9-281 · Cited by 96 · see citing works
Alpha1‐antitrypsin deficiency–related alleles Z and S and the risk of Wegener's granulomatosis
Mahr, A., Edberg, J. C., Stone, J. H., Hoffman, G. S., Clair, E. W. S., Specks, U., Dellaripa, P. F., Seo, P., Spiera, R., Rouhani, F. N., et al. (2010) · Arthritis & Rheumatism · doi:10.1002/art.27742 · Cited by 95 · see citing works
Mitochondrial DNA haplogroups influence AIDS progression
Hendrickson, S. L., Hutcheson, H. B., Ruiz‐Pesini, E., Poole, J. C., Lautenberger, J. A., Sezgın, E., Kingsley, L., Goedert, J. J., Vlahov, D., Donfield, S. M., et al. (2008) · AIDS · doi:10.1097/qad.0b013e32831940bb · Cited by 92 · see citing works
Fine-scaled human genetic structure revealed by SNP microarraysPreprint
Xing, J., Watkins, W. S., Witherspoon, D. J., Zhang, Y., Guthery, S. L., THARA, R., Mowry, B. J., Bulayeva, K., Weiss, R. B., & Jorde, L. B. (2009) · Genome Research · doi:10.1101/gr.085589.108 · Cited by 93 · see citing works
Meyers, K. J., Johnson, E. J., Bernstein, P. S., Iyengar, S. K., Engelman, C. D., Karki, C. K., Liu, Z., Igo, R. P., Truitt, B. J., Klein, M. L., et al. (2013) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.12-10867 · Cited by 92 · see citing works
Ancestry informative markers for fine-scale individual assignment to worldwide populations
Paschou, P., Lewis, J., Javed, A., & Petros Drineas, B. (2010) · Journal of Medical Genetics · doi:10.1136/jmg.2010.078212 · Cited by 93 · see citing works
Sex Differences in Genetic Associations With Longevity
Zeng, Y., Nie, C., Min, J., Chen, H., Liu, X., Ye, R., Chen, Z., Bai, C., Xie, E., Yin, Z., et al. (2018) · JAMA Network Open · doi:10.1001/jamanetworkopen.2018.1670 · Cited by 90 · see citing works
Perspectives on Human Population Structure at the Cusp of the Sequencing Era
Novembre, J., & Ramachandran, S. (2011) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev-genom-090810-183123 · Cited by 86 · see citing works
Perspectives in polycystic ovary syndrome: From hair to eternity
Dunaif, A. (2016) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2015-3780 · Cited by 87 · see citing works
Hao, K., Chudin, E., McElwee, J. J., & Schadt, E. E. (2009) · BMC Genetics · doi:10.1186/1471-2156-10-27 · Cited by 86 · see citing works
Guo, Y., Lanktree, M. B., Taylor, K. C., Hakonarson, H. H., Lange, L. A., & Keating, B. J. (2012) · Human Molecular Genetics · doi:10.1093/hmg/dds396 · Cited by 84 · see citing works
Tracing Sub-Structure in the European American Population with PCA-Informative Markers
Paschou, P., Petros Drineas, B., Lewis, J., Nievergelt, C. M., Nickerson, D. A., Smith, J. D., Ridker, P. M., Chasman, D. I., Krauss, R. M., & Ziv, E. (2008) · PLoS Genetics · doi:10.1371/journal.pgen.1000114 · Cited by 85 · see citing works
Xing, J., Woodward, S. R., Shlien, A., Walker, E. J., Huff, C. D., Witherspoon, D. J., Zhang, Y., Simonson, T. S., Weiss, R. B., Schiffman, J. D., et al. (2010) · Genomics · doi:10.1016/j.ygeno.2010.07.004 · Cited by 82 · see citing works
Association study of IL10 and IL23R–IL12RB2 in Iranian patients with Behçet's disease
Xavier, J. M., Shahram, F., Davatchi, F., Rosa, A., Crespo, J., Abdollahi, B. S., Nadji, A., Jesus, G., Barcelos, F., Patto, J. V., et al. (2012) · Arthritis & Rheumatism · doi:10.1002/art.34437 · Cited by 82 · see citing works
Bossé, Y., Bacot, F., Montpetit, A., Rung, J., Qu, H., Engert, J. C., Polychronakos, C., Hudson, T. J., Froguel, P., SLADEK, R. M., et al. (2009) · Human Genetics · doi:10.1007/s00439-009-0626-9 · Cited by 80 · see citing works
Adib, E., Nassar, A. H., Alaiwi, S. A., Groha, S., Akl, E. W., Sholl, L. M., Michael, K., Awad, M. M., Janne, P. A., Gusev, A., et al. (2022) · Genome Medicine · doi:10.1186/s13073-022-01041-x · Cited by 79 · see citing works
Clines Without Classes: How to Make Sense of Human Variation
Fujimura, J. H., Bolnick, D. A., Rajagopalan, R., Kaufman, J. S., Lewontin, R. C., Duster, T., Ossorio, P., & Marks, J. (2014) · Sociological Theory · doi:10.1177/0735275114551611 · Cited by 76 · see citing works
Rheumatoid arthritis: a view of the current genetic landscape
Coenen, M. J. H., & Gregersen, P. K. (2008) · Genes and Immunity · doi:10.1038/gene.2008.77 · Cited by 76 · see citing works
Engelman, C. D., Meyers, K. J., Iyengar, S. K., Liu, Z., Karki, C. K., Igo, R. P., Truitt, B. J., Robinson, J. G., Sarto, G. E., Wallace, R. B., et al. (2012) · Journal of Nutrition · doi:10.3945/jn.112.169482 · Cited by 73 · see citing works
Tayo, B. O., Teil, M., Tong, L., Qin, H., Khitrov, G., Zhang, W., Song, Q., Gottesman, O., Zhu, X., Pereira, A. C., et al. (2011) · PLoS ONE · doi:10.1371/journal.pone.0019166 · Cited by 72 · see citing works
Need, A. C., Kasperavičiūtė, D., Cirulli, E. T., & Goldstein, D. B. (2009) · Genome biology · doi:10.1186/gb-2009-10-1-r7 · Cited by 70 · see citing works
Self-citationProfiling and Leveraging Relatedness in a Precision Medicine Cohort of 92,455 Exomes
Staples, J. C., Maxwell, E. K., Gosalia, N., Gonzaga-Jauregui, C. G., Snyder, C., Hawes, A. C., Penn, J., Ulloa, R. H., Bai, X., Lopez, A. E., et al. (2018) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2018.03.012 · Cited by 66 · see citing works
Genetic regulation of adult stature
Lettre, G. (2009) · Current Opinion in Pediatrics · doi:10.1097/mop.0b013e32832c6dce · Cited by 67 · see citing works
Barnholtz-Sloan, J., Mcevoy, B. P., Shriver, M., & Rebbeck, T. (2008) · Cancer Epidemiology, Biomarkers and Prevention · doi:10.1158/1055-9965.epi-07-0491 · Cited by 70 · see citing works
Guthridge, J. M., Lu, R., Sun, H., Sun, C., Wiley, G. B., Domínguez, N., Macwana, S., Lessard, C. J., Kim-Howard, X., Cobb, B. L., et al. (2014) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2014.03.008 · Cited by 63 · see citing works
- Authors
- Price, A. L., Butler, J., Patterson, N., Capelli, C., Pascali, V. L., Scarnicci, F., Ruiz-Linares, A., Groop, L., Saetta, A. A., Korkolopoulou, P., Seligsohn, U., Waliszewska, A., Schirmer, C., Ardlie, K., Ramos, A., Nemesh, J., Arbeitman, L., Goldstein, D. B., Reich, D., & Hirschhorn, J. N.
- Affiliations
- Broad Institute (US)
- University of Oxford (GB)
- Università Cattolica del Sacro Cuore (IT)
- Lund University (SE)
- National and Kapodistrian University of Athens (GR)
- Sheba Medical Center (IL)
- Duke University (US)
- Corresponding author
- Price, Alkes L
- Reich, David
- Hirschhorn, Joel N
- ORCID
- Venue
- PLoS Genetics
- Publisher
- Public Library of Science (PLoS)
- Published
- 2008-01-18
- Volume
- 4
- Issue
- 1
- Pages
- e236
- ISSN
- 1553-7390 (ISSN-L)
- 1553-7404
- PMC
- PMC2211542
- OpenAlex
- W2117980841
- Cited by
- 327
- References
- 35
- Citations by year
- 2026: 3 · 2025: 4 · 2024: 9 · 2023: 6 · 2022: 7 · 2021: 5 · 2020: 13 · 2019: 7 · 2018: 10 · 2017: 12 · 2016: 15 · 2015: 17 · 2014: 13 · 2013: 20 · 2012: 33
- FWCI
- 29.06
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Locations
- PLoS Genetics (publishedVersion, cc-by)
- Europe PMC (PubMed Central) (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- Oxford University Research Archive (ORA) (University of Oxford) (acceptedVersion, cc-by)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
- UCL Discovery (University College London) (submittedVersion)
- Figshare (submittedVersion, cc-by)
- Lund University Publications (Lund University) (submittedVersion)
- Funders
- American Diabetes Association
- March of Dimes Foundation
- Richard and Susan Smith Family Foundation
- Massachusetts General Hospital
- University of Pennsylvania
- Emory University
- Northwestern University
- University of Pittsburgh
- Louisiana State University
- Broad Institute
- National Institutes of Health (6u54rr020278-06)
- School of Medicine, Emory University
- National Institute of Mental Health (MH59566, MH-60870, MH-059565, MH067257, MH-061675, MH-59586, R01MH059566, R01MH059571, MH-059571, R01MH060879, R01MH059565, R01MH060870, R01MH063420, U01 MH-060879, R01MH061675, R01MH059586, R01MH059588, MH63420, R01MH067257, MH-59587, MH-059588, R01MH059587)
- National Human Genome Research Institute (U01HG004168)
- National Institute of Neurological Disorders and Stroke
- National Center for Research Resources (U54-RR020278)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Forensic and Genetic Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Race, Genetics, and Society
- Keywords
- European Americans, population structure, ancestry inference, population stratification, genetic association studies, Ashkenazi Jewish ancestry, ancestry informative markers, false positive association
- MeSH terms
- Bipolar Disorder, DNA, Genetic Markers, Genetics, Population, Geography, Humans, Jews, Multiple Sclerosis, Parkinson Disease, United States, Genetic Variation, Reproducibility of Results, Inflammatory Bowel Diseases, Genome, Human, Case-Control Studies, Oligonucleotide Array Sequence Analysis, White People
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.
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