The Power of Genomic Control
Open accessAbstract
Although association analysis is a useful tool for uncovering the genetic underpinnings of complex traits, its utility is diminished by population substructure, which can produce spurious association between phenotype and genotype within population-based samples. Because family-based designs are robust against substructure, they have risen to the fore of association analysis. Yet, if population substructure could be ignored, this robustness can come at the price of power. Unfortunately it is rarely evident when population substructure can be ignored. Devlin and Roeder recently have proposed a method, termed "genomic control" (GC), which has the robustness of family-based designs even though it uses population-based data. GC uses the genome itself to determine appropriate corrections for population-based association tests. Using the GC method, we contrast the power of two study designs, family trios (i.e., father, mother, and affected progeny) versus case-control. For analysis of trios, we use the TDT test. When population substructure is absent, we find GC is always more powerful than TDT; furthermore, contrary to previous results, we show that as a disease becomes more prevalent the discrepancy in power becomes more extreme. When population substructure is present, however, the results are more complex: TDT is more powerful when population substructure is substantial, and GC is more powerful otherwise. We also explore general issues of power and implementation of GC within the case-control setting and find that, economically, GC is at least comparable to and often less expensive than family-based methods. Therefore, GC methods should prove a useful complement to family-based methods for the genetic analysis of complex traits.
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Several standard stratification-correction methods were evaluated, including genomic control, principal component analysis, and linear mixed models.
“The most popular are genomic control (GC)21,22, principal component analysis (PCA)23 and linear mixed models24.”
From Differential confounding of rare and common variants in spatially structured populations (2012) · cites this paper as [21]
Cites
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
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
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
Self-citationMathematical Statistics and Data Analysis
Rabinowitz, L., & Rice, J. A. (1989) · Technometrics · doi:10.2307/3556160 · Cited by 3,142 · see citing works
BARNETT, V. D., Lewis, T., & Abeles, F. F. (1979) · Physics Today · doi:10.1063/1.2995737 · Cited by 2,834 · 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
Tests for Linear Trends in Proportions and Frequencies
Armitage, P. (1955) · Biometrics · doi:10.2307/3001775 · Cited by 2,092 · see citing works
Chambers, J. M., Hastie, T., & Pregibon, D. (1990) · Physica-Verlag eBooks · doi:10.1007/978-3-642-50096-1_48 · Cited by 1,763 · see citing works
History and Geography of Human Genes
Piazza, A. (1994) · Advances in forensic haemogenetics · doi:10.1007/978-3-642-78782-9_1 · Cited by 1,639 · see citing works
Weir, B. S. (1990) · Cited by 1,340 · 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
Linkage strategies for genetically complex traits. I. Multilocus models.
RISCH, N. J. (1990) · PubMed · Cited by 1,315 · see citing works
Evolution and the Genetics of Populations: Volume 2, The Theory of Gene Frequencies
Wright, S., & Kempthorne, O. (1968) · Cited by 1,083 · see citing works
From Genotypes to Genes: Doubling the Sample Size
Sasieni, P. D. (1997) · Biometrics · doi:10.2307/2533494 · Cited by 897 · see citing works
New Goals for the U.S. Human Genome Project: 1998-2003
Collins, F. S., Patrinos, A., Jordan, E., Chakravarti, A., Gesteland, R. F., Walters, L. B., & groups, T. M. O. T. D. A. N. P. (1998) · Science · doi:10.1126/science.282.5389.682 · Cited by 857 · see citing works
The theory of gene frequencies
Wright, S. (1969) · University of Chicago Press eBooks · Cited by 755 · 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
Buckland, W. R., Barnett, V., & Lewis, T. (1979) · Journal of the Operational Research Society · doi:10.2307/3009391 · Cited by 471 · see citing works
Evolution and the Genetics of Populations. Vol. 2. The Theory of Gene Frequencies.
Smith, C. A. B., & Wright, S. (1971) · Population Studies · doi:10.2307/2172773 · Cited by 381 · see citing works
Risch, N., & Teng, J. (1998) · Genome Research · doi:10.1101/gr.8.12.1273 · Cited by 366 · see citing works
Reliability: Probabilistic Models and Statistical Methods
Lawson, J. S., & Leemis, L. M. (1996) · Technometrics · doi:10.2307/1270616 · Cited by 348 · see citing works
Houwen, R. H. J., Baharloo, S., Blankenship, K., Raeymaekers, P., Juyn, J., Sandkuijl, L. A., & Freimer, N. B. (1994) · Nature Genetics · doi:10.1038/ng1294-380 · Cited by 316 · see citing works
Tests and estimates of allelic association in complex inheritance
Morton, N. E., & Collins, A. R. (1998) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.95.19.11389 · Cited by 248 · see citing works
Puffenberger, E. G., Kauffman, E., Gabriel, S., Matise, T. C., Washington, S. S., Angrist, M. H., Weissenbach, J., Garver, K. L., Mascari, M. J., Ladda, R. L., et al. (1994) · Human Molecular Genetics · doi:10.1093/hmg/3.8.1217 · Cited by 244 · see citing works
The generalized sib pair IBD distribution: its use in the detection of linkage
Suarez, B. K., Rice, J. P., & Reich, T. (1978) · Annals of Human Genetics · doi:10.1111/j.1469-1809.1978.tb00933.x · Cited by 242 · see citing works
Risk models for familial ovarian and breast cancer
Antoniou, A. C., Gayther, S. A., Stratton, J. F., Ponder, B. A. J., & Easton, D. F. (2000) · Genetic Epidemiology · doi:10.1002/(sici)1098-2272(200002)18:2 · Cited by 192 · see citing works
A Note on Power Approximations for the Transmission/Disequilibrium Test
Knapp, M. (1999) · The American Journal of Human Genetics · doi:10.1086/302334 · Cited by 152 · see citing works
Population subdivision with respect to multiple alleles
Li, C. C. (1969) · Annals of Human Genetics · doi:10.1111/j.1469-1809.1969.tb01625.x · Cited by 107 · see citing works
Buckland, W. R. (1979) · Journal of the Operational Research Society · doi:10.1057/jors.1979.165 · Cited by 103 · see citing works
Genetic structure of forensic populations.
Morton, N. E. (1992) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.89.7.2556 · Cited by 88 · see citing works
Statistical Evaluation of DNA Fingerprinting: a Critique of the NRC's Report
Devlin, B., RISCH, N. J., & Roeder, K. (1993) · Science · doi:10.1126/science.8430323 · Cited by 59 · see citing works
Self-citationGenomic control for association studies: a semiparametric test to detect excess-haplotype sharing
Devlin, B. (2000) · Biostatistics · doi:10.1093/biostatistics/1.4.369 · Cited by 53 · see citing works
Self-citationOn the Efficiency of Matched Pairs in Bernoulli Trials
Chase, G. R. (1968) · Biometrika · doi:10.1093/biomet/55.2.365 · Cited by 26 · see citing works
Analysis of Genetic Structure of Populations: Meaning, Methods, and Implications
Chakraborty, R. (1993) · Springer eBooks · doi:10.1007/978-1-4615-2970-5_14 · Cited by 25 · see citing works
(1993) · Springer eBooks · doi:10.1007/978-1-4615-2970-5 · Cited by 22 · see citing works
Flagged first, then by citations
Cited by
Sorted by citations
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
Population 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
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
Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts
Aulchenko, Y. S., Janssens, A. C. J. W., Albert Hofman, D., Isaacs, A. J., Sijbrands, E. J. G., Witteman, J. C. M., van Duijn, C. M., Ripatti, S., Lindqvist, I., Perola, M., et al. (2008) · Nature Genetics · doi:10.1038/ng.269 · Cited by 846 · see citing works
New loci associated with kidney function and chronic kidney disease
Köttgen, A., Pattaro, C., Böger, C. A., Fuchsberger, C., Olden, M., Glazer, N. L., Parsa, A., Gao, X., Yang, Q., Smith, A. V., et al. (2010) · Nature Genetics · doi:10.1038/ng.568 · Cited by 801 · see citing works
Kolz, M., Johnson, T., Sanna, S., Teumer, A., Vitart, V., Perola, M., Mangino, M., Albrecht, E., Wallace, C., Farrall, M., et al. (2009) · PLoS Genetics · doi:10.1371/journal.pgen.1000504 · Cited by 659 · 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
DIAGRAM, Kooner, J. S., MuTHER, Saleheen, D., Sim, X., Sehmi, J., Zhang, W., Frossard, P., Been, L. F., Chia, K., et al. (2011) · Nature Genetics · doi:10.1038/ng.921 · Cited by 531 · 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
Self-citationHigh-Resolution Whole-Genome Association Study of Parkinson Disease
Maraganore, D. M., de Andrade, M., Lesnick, T. G., Strain, K. J., Farrer, M. J., Rocca, W. A., Pant, P. V. K., Frazer, K. A., Cox, D., & Ballinger, D. G. (2005) · The American Journal of Human Genetics · doi:10.1086/496902 · Cited by 508 · see citing works
What makes a good genetic association study?
Hattersley, A. T., & McCarthy, M. I. (2005) · The Lancet · doi:10.1016/s0140-6736(05)67531-9 · Cited by 465 · 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
Differential confounding of rare and common variants in spatially structured populations
Mathieson, I., & McVean, G. (2012) · Nature Genetics · doi:10.1038/ng.1074 · Cited by 385 · see citing works
Common genetic variants, acting additively, are a major source of risk for autism
Klei, L., Sanders, S. J., Murtha, M. T., Hus, V., Lowe, J. K., Willsey, A. J., Moreno-De-Luca, D., Yu, T. W., Fombonne, E., Geschwind, D., et al. (2012) · Molecular Autism · doi:10.1186/2040-2392-3-9 · Cited by 418 · see citing works
Self-citationTheory and practice in quantitative genetics
Posthuma, D., Beem, A. L., de Geus, E. J. C., van Baal, G. C. M., von Hjelmborg, J. B., Iachine, I., & Boomsma, D. I. (2003) · Twin Research · doi:10.1375/136905203770326367 · Cited by 416 · 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
Point: 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
Genetic variation in PSCA is associated with susceptibility to diffuse-type gastric cancer
The Study Group of Millennium Genome Project for Cancer (2008) · Nature Genetics · doi:10.1038/ng.152 · Cited by 389 · see citing works
Whitcomb, D. C., LaRusch, J., Krasinskas, A. M., Klei, L., Smith, J. P., Brand, R. E., Neoptolemos, J. P., Lerch, M. M., Tector, M., Sandhu, B. S., et al. (2012) · Nature Genetics · doi:10.1038/ng.2466 · Cited by 352 · see citing works
Self-citationGlatt, S. J., Faraone, S. V., & Tsuang, M. T. (2003) · American Journal of Psychiatry · doi:10.1176/appi.ajp.160.3.469 · Cited by 343 · see citing works
Genome-wide scan identifies variation in MLXIPL associated with plasma triglycerides
Kooner, J. S., Chambers, J. C., Aguilar-Salinas, C. A., Hinds, D. A., Hyde, C. L., Warnes, G. R., Pérez, F. J. G., Frazer, K. A., Elliott, P., Scott, J., et al. (2008) · Nature Genetics · doi:10.1038/ng.2007.61 · Cited by 329 · see citing works
Mansour, H. A., Wood, J., Logue, T., Chowdari, K. V., Dayal, M., Kupfer, D. J., Monk, T. H., Devlin, B., & Nimgaonkar, V. L. (2006) · Genes, Brain and Behavior · doi:10.1111/j.1601-183x.2005.00147.x · Cited by 293 · see citing works
Self-citationAbdurakhmonov, I. Y., & Abdukarimov, A. (2008) · International Journal of Plant Genomics · doi:10.1155/2008/574927 · Cited by 293 · see citing works
Association and linkage analyses of RGS4 polymorphisms in schizophrenia
Chowdari, K. V. (2002) · Human Molecular Genetics · doi:10.1093/hmg/11.12.1373 · Cited by 368 · see citing works
Pharmacogenetics and the serotonin system: initial studies and future directions
Veenstra-VanderWeele, J. M., Anderson, G. M., & Cook, E. H. (2000) · European Journal of Pharmacology · doi:10.1016/s0014-2999(00)00814-1 · Cited by 289 · see citing works
Heard‐Costa, N. L., Zillikens, M. C., Monda, K. L., Johansson, Å., Harris, T. B., Fu, M., Haritunians, T., Feitosa, M. F., Aspelund, T., Eiríksdóttir, G., et al. (2009) · PLoS Genetics · doi:10.1371/journal.pgen.1000539 · Cited by 282 · see citing works
HLA Has Strongest Association with IgA Nephropathy in Genome-Wide Analysis
Feehally, J., Farrall, M., Boland, A., Gale, D. P., Gut, I. G., Heath, S. C., Kumar, A., Peden, J. F., Maxwell, P. H., Morris, D. L., et al. (2010) · Journal of the American Society of Nephrology · doi:10.1681/asn.2010010076 · Cited by 278 · see citing works
What makes a good case–control study?
Zondervan, K. T., Cardon, L. R., & Kennedy, S. H. (2002) · Human Reproduction · doi:10.1093/humrep/17.6.1415 · Cited by 271 · see citing works
AUTISM AS A PARADIGMATIC COMPLEX GENETIC DISORDER
Veenstra-VanderWeele, J. M., Christian, S. L., & Cook, E. H. (2004) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev.genom.5.061903.180050 · Cited by 271 · see citing works
Toward a molecular architecture of personality
Reif, A., & Lesch, K. (2003) · Behavioural Brain Research · doi:10.1016/s0166-4328(02)00267-x · Cited by 253 · see citing works
The involvement of ErbB4 with schizophrenia: Association and expression studies
Silberberg, G., Darvasi, A., Pinkas‐Kramarski, R., & Navon, R. (2006) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.30275 · Cited by 251 · see citing works
Accounting for Population Stratification in DNA Methylation Studies
Barfield, R., Almli, L. M., Kilaru, V., Smith, A. K., Mercer, K. B., Duncan, R., Klengel, T., Mehta, D., Binder, E. B., Epstein, M. P., et al. (2014) · Genetic Epidemiology · doi:10.1002/gepi.21789 · Cited by 240 · 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
CUBN Is a Gene Locus for Albuminuria
Böger, C. A., Chen, M., Tin, A., Olden, M., Köttgen, A., de Boer, I. H., Fuchsberger, C., O’Seaghdha, C. M., Pattaro, C., Teumer, A., et al. (2011) · Journal of the American Society of Nephrology · doi:10.1681/asn.2010060598 · Cited by 236 · see citing works
Investigation of serotonin-related genes in antidepressant response
Peters, E. J., Slager, S. L., McGrath, P. J., Knowles, J. A., & Hamilton, S. P. (2004) · Molecular Psychiatry · doi:10.1038/sj.mp.4001502 · Cited by 231 · see citing works
CNR1, central cannabinoid receptor gene, associated with susceptibility to hebephrenic schizophrenia
Ujike, H., Takaki, M., Nakata, K., Tanaka, Y., Takeda, T., Kodama, M., Fujiwara, Y., Sakai, A., & Kuroda, S. (2002) · Molecular Psychiatry · doi:10.1038/sj.mp.4001029 · Cited by 228 · see citing works
Sequence Analysis of the Serotonin Transporter and Associations with Antidepressant Response
Kraft, J. B., Slager, S. L., McGrath, P. J., & Hamilton, S. P. (2005) · Biological Psychiatry · doi:10.1016/j.biopsych.2005.04.048 · Cited by 224 · see citing works
Molecular genetics of autism spectrum disorder
Veenstra-VanderWeele, J. M., & Cook, E. H. (2004) · Molecular Psychiatry · doi:10.1038/sj.mp.4001505 · Cited by 220 · see citing works
Confounding from Cryptic Relatedness in Case-Control Association Studies
Voight, B. F., & Pritchard, J. K. (2005) · PLoS Genetics · doi:10.1371/journal.pgen.0010032 · Cited by 216 · see citing works
Genetic perspectives on the serotonin transporter
Murphy, D. L., Li, Q., Engel, S. R., Wichems, C. H., Andrews, A. M., Lesch, K., & Uhl, G. R. (2001) · Brain Research Bulletin · doi:10.1016/s0361-9230(01)00622-0 · Cited by 214 · see citing works
Common Genetic Determinants of Intraocular Pressure and Primary Open-Angle Glaucoma
van Koolwijk, L. M. E., Ramdas, W. D., Ikram, M. K., Jansonius, N. M., Pasutto, F., Hysi, P. G., MacGregor, S., Janssen, S. F., Hewitt, A. W., Viswanathan, A. C., et al. (2012) · PLoS Genetics · doi:10.1371/journal.pgen.1002611 · Cited by 202 · see citing works
Arbelle, S., Benjamin, J., Golin, M., Kremer, I., Belmaker, R. H., & Ebstein, R. P. (2003) · American Journal of Psychiatry · doi:10.1176/appi.ajp.160.4.671 · Cited by 202 · see citing works
Hou, S., Yang, Z., Du, L., Jiang, Z., Shu, Q., Chen, Y., Li, F., Zhou, Q., Ohno, S., Chen, R., et al. (2012) · Arthritis & Rheumatism · doi:10.1002/art.37708 · Cited by 201 · see citing works
Ostrowski, M.-F., David, J., Santoni, S., McKhann, H. I., Reboud, X., Corre, V. L., Camilleri, C., Brunel, D., Bouchez, D., FAURE, B., et al. (2006) · Molecular Ecology · doi:10.1111/j.1365-294x.2006.02865.x · Cited by 197 · see citing works
Dries, D. L., Victor, R. G., Rame, J. E., Cooper, R., Wu, X., Zhu, X., Leonard, D. S., Ho, S. I., Wu, Q., Post, W. S., et al. (2005) · Circulation · doi:10.1161/circulationaha.105.568881 · Cited by 195 · see citing works
Shields, A., Fortun, M., Hammonds, E., King, P., Lerman, C., Rapp, R., & Sullivan, P. (2005) · American Psychologist · doi:10.1037/0003-066x.60.1.77 · Cited by 170 · see citing works
Single nucleotide polymorphism seeking long term association with complex disease
Kirk, B. W. (2002) · Nucleic Acids Research · doi:10.1093/nar/gkf466 · Cited by 177 · see citing works
Candidate gene case‐control association studies: advantages and potential pitfalls
Daly, A. K., & Day, C. P. (2001) · British Journal of Clinical Pharmacology · doi:10.1046/j.0306-5251.2001.01510.x · Cited by 171 · see citing works
Antioxidant Gene Polymorphisms and Susceptibility to a Rapid Decline in Lung Function in Smokers
He, J., Ruan, J., Connett, J. E., Anthonisen, N. R., Paré, P. D., & Sandford, A. J. (2002) · American Journal of Respiratory and Critical Care Medicine · doi:10.1164/rccm.2111059 · Cited by 165 · see citing works
Mansour, H. A., Talkowski, M. E., Wood, J., Chowdari, K. V., McClain, L., Prasad, K., Montrose, D., Fagiolini, A., Friedman, E. S., Allen, M. H., et al. (2009) · Bipolar Disorders · doi:10.1111/j.1399-5618.2009.00756.x · Cited by 161 · see citing works
Self-citationThornton, T. A., & McPeek, M. S. (2010) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2010.01.001 · Cited by 161 · see citing works
Genomic Control to the extreme
Devlin, B., Bacanu, S.-A., & Roeder, K. (2004) · Nature Genetics · doi:10.1038/ng1104-1129 · Cited by 157 · see citing works
Self-citationKraft, J. B., Peters, E. J., Slager, S. L., Jenkins, G. D., Reinalda, M. S., McGrath, P. J., & Hamilton, S. P. (2006) · Biological Psychiatry · doi:10.1016/j.biopsych.2006.07.017 · Cited by 150 · see citing works
Stein, J. L., Hua, X., Morra, J. H., Lee, S., Hibar, D. P., Ho, A. J., Leow, A. D., Toga, A. W., Sul, J. H., Kang, H. M., et al. (2010) · NeuroImage · doi:10.1016/j.neuroimage.2010.02.068 · Cited by 145 · see citing works
SNP-Based Analysis of Genetic Substructure in the German Population
Steffens, M., Lamina, C., Illig, T., Bettecken, T., Vogler, R., Entz, P., Suk, E.-K., Toliat, M. R., Klopp, N., Caliebe, A., et al. (2006) · Human Heredity · doi:10.1159/000095850 · Cited by 144 · see citing works
Self-citationA network of dopaminergic gene variations implicated as risk factors for schizophrenia.
Talkowski, M. E., Kirov, G., Bamne, M., Georgieva, L., Torres, G. E., Mansour, H. A., Chowdari, K., Milanova, V., Wood, J., McClain, L., et al. (2008) · Human Molecular Genetics · doi:10.1093/hmg/ddm347 · Cited by 154 · see citing works
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Hutchison, K. E., Stallings, M. C., McGeary, J. E., & Bryan, A. D. (2004) · Psychological Bulletin · doi:10.1037/0033-2909.130.1.66 · Cited by 142 · see citing works
A second independent locus within DMRT1 is associated with testicular germ cell tumor susceptibility
Kanetsky, P. A., Mitra, N., Vardhanabhuti, S., Vaughn, D. J., Li, M., Ciosek, S. L., Letrero, R., D'Andrea, K. P., Vaddi, M., Doody, D. R., et al. (2011) · Human Molecular Genetics · doi:10.1093/hmg/ddr207 · Cited by 142 · see citing works
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Devlin, B., Roeder, K., & Bacanu, S. (2001) · Genetic Epidemiology · doi:10.1002/gepi.1034 · Cited by 141 · see citing works
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Zillikens, M. C., van Meurs, J. B. J., Rivadeneira, F., Amin, N., Albert Hofman, D., Oostra, B. A., Sijbrands, E. J. G., Witteman, J. C. M., Pols, H. A. P., van Duijn, C. M., et al. (2009) · Diabetes · doi:10.2337/db09-0536 · Cited by 138 · see citing works
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Bergen, A. W., Yeager, M., Welch, R. A., Haque, K., Ganjei, J. K., van den Bree, M. B. M., Mazzanti, C., Nardi, I., Fichter, M. M., Halmi, K. A., et al. (2005) · Neuropsychopharmacology · doi:10.1038/sj.npp.1300719 · Cited by 137 · see citing works
Self-citationLuca, D., Ringquist, S., Klei, L., Lee, A. B., Gieger, C., Wichmann, H.-E., Schreiber, S., Krawczak, M., Lu, Y., Styche, A., et al. (2008) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2007.11.003 · Cited by 128 · see citing works
Self-citationKanazawa, T., Glatt, S. J., Kia-Keating, B. M., Yoneda, H., & Tsuang, M. T. (2007) · Psychiatric Genetics · doi:10.1097/ypg.0b013e32801da2e2 · Cited by 132 · see citing works
Saeki, N., Saito, A., Choi, I. J., Matsuo, K., Ohnami, S., Totsuka, H., Chiku, S., Kuchiba, A., Lee, Y.-S., Yoon, K., et al. (2010) · Gastroenterology · doi:10.1053/j.gastro.2010.10.058 · Cited by 133 · see citing works
Hunninghake, G. M., Weiss, S. T., & Celedon, J. C. (2005) · American Journal of Respiratory and Critical Care Medicine · doi:10.1164/rccm.200508-1232so · Cited by 127 · see citing works
Ballenger, J. C. (2008) · Yearbook of Psychiatry and Applied Mental Health · doi:10.1016/s0084-3970(08)70773-4 · Cited by 123 · see citing works
Genetic Case-Control Association Studies in Neuropsychiatry
Sullivan, P. F. (2001) · Archives of General Psychiatry · doi:10.1001/archpsyc.58.11.1015 · Cited by 120 · see citing works
Logistic regression protects against population structure in genetic association studiesPreprint
Setakis, E., Stirnadel, H., & Balding, D. J. (2005) · Genome Research · doi:10.1101/gr.4346306 · Cited by 120 · see citing works
Association studies for quantitative traits in structured populations
Bacanu, S., Devlin, B., & Roeder, K. (2001) · Genetic Epidemiology · doi:10.1002/gepi.1045 · Cited by 120 · see citing works
Self-citationHuman population structure and genetic association studies.
Ziv, E., & Burchard, E. (2003) · Pharmacogenomics (London) · doi:10.1517/phgs.4.4.431.22758 · Cited by 127 · see citing works
Slager, S. L., & Schaid, D. J. (2001) · The American Journal of Human Genetics · doi:10.1086/320608 · Cited by 119 · see citing works
The complex genetics of multiple sclerosis: pitfalls and prospects
Sawcer, S. J. (2008) · Brain · doi:10.1093/brain/awn081 · Cited by 115 · see citing works
Kapur, K., Johnson, T., Beckmann, N. D., Sehmi, J., Tanaka, T., Kutalik, Z., Styrkársdóttir, U., Zhang, W., Marek, D., Gudbjartsson, D. F., et al. (2010) · PLoS Genetics · doi:10.1371/journal.pgen.1001035 · Cited by 116 · see citing works
Evolutionary‐based association analysis using haplotype data
Seltman, H. J., Roeder, K., & Devlin, B. (2003) · Genetic Epidemiology · doi:10.1002/gepi.10246 · Cited by 111 · see citing works
Self-citationGoddard, K. A. B., Tromp, G. C., Romero, R. J., Olson, J. M., Lu, Q. L., Xu, Z., Parimi, N., Nien, J. K., Gómez, R., Behnke, E., et al. (2006) · Human Heredity · doi:10.1159/000097926 · Cited by 112 · see citing works
Genetic association mapping at the crossroads: Which test and why? Overview and practical guidelines
Schulze, T. G., & McMahon, F. J. (2001) · American Journal of Medical Genetics · doi:10.1002/ajmg.10042 · Cited by 110 · see citing works
Genome‐wide association study of a quantitative disordered gambling trait
Lind, P. A., Zhu, G., Montgomery, G. W., Madden, P. A. F., Heath, A. C., Martin, N. G., & Slutske, W. S. (2012) · Addiction Biology · doi:10.1111/j.1369-1600.2012.00463.x · Cited by 107 · see citing works
Romero, R., Kuivaniemi, H., Tromp, G., & Olson, J. (2002) · American Journal of Obstetrics and Gynecology · doi:10.1067/mob.2002.128319 · Cited by 111 · see citing works
Tsai, H., Choudhry, S., Naqvi, M., Rodríguez-Cintrón, W., Burchard, E. G., & Ziv, E. (2005) · Human Genetics · doi:10.1007/s00439-005-0067-z · Cited by 102 · see citing works
Potkin, S. G., Turner, J. A., Guffanti, G., Lakatos, A., Torri, F., Keator, D. B., & Macciardi, F. M. (2009) · Cognitive Neuropsychiatry · doi:10.1080/13546800903059829 · Cited by 99 · see citing works
Zhang, S., Zhu, X., & Zhao, H. (2002) · Genetic Epidemiology · doi:10.1002/gepi.10196 · Cited by 98 · see citing works
Complexity and Power in Case-Control Association Studies
Longmate, J. (2001) · The American Journal of Human Genetics · doi:10.1086/320106 · Cited by 96 · see citing works
Johansson, Å., Marroni, F., Hayward, C., Franklin, C. S., Kirichenko, A. V., Jonasson, I., Hicks, A. A., Vitart, V., Isaacs, A. J., Axenovich, T. I., et al. (2008) · Human Molecular Genetics · doi:10.1093/hmg/ddn350 · Cited by 95 · see citing works
Gu, D., Su, S., Ge, D., Chen, S., Huang, J., Li, B., Chen, R., & Qiang, B. (2006) · Hypertension · doi:10.1161/01.hyp.0000219041.66702.45 · Cited by 95 · see citing works
Bench-to-bedside review: understanding genetic predisposition to sepsis.
Villar, J., Maca‐Meyer, N., Pérez‐Méndez, L., & Flores, C. (2004) · Critical Care · doi:10.1186/cc2863 · Cited by 92 · see citing works
Zee, R. Y. L. (2003) · Human Molecular Genetics · doi:10.1093/hmg/ddh039 · Cited by 91 · see citing works
Ackerman, H. C., Usen, S., Jallow, M., Sisay-Joof, F., Pinder, M., & Kwiatkowski, D. P. (2005) · Annals of Human Genetics · doi:10.1111/j.1529-8817.2005.00180.x · Cited by 90 · see citing works
The Importance of Genealogy in Determining Genetic Associations with Complex Traits
Newman, D. L., Abney, M., McPeek, M. S., Ober, C., & Cox, N. J. (2001) · The American Journal of Human Genetics · doi:10.1086/323659 · Cited by 90 · see citing works
Genome-Wide Association Studies of MRI-Defined Brain Infarcts
Debette, S., Bis, J. C., Fornage, M., Schmidt, H., Ikram, M. A., Sigurdsson, S. O., HEISS, G. M., Struchalin, M. V., Smith, A. V., van der Lugt, A., et al. (2010) · Stroke · doi:10.1161/strokeaha.109.569194 · Cited by 90 · see citing works
Case‐control association testing in the presence of unknown relationships
Choi, Y., Wijsman, E. M., & Weir, B. S. (2009) · Genetic Epidemiology · doi:10.1002/gepi.20418 · Cited by 82 · see citing works
Robust Genomic Control for Association Studies
Zheng, G., Freidlin, B., & Gastwirth, J. L. (2006) · The American Journal of Human Genetics · doi:10.1086/500054 · Cited by 87 · see citing works
Finding Genes Influencing Susceptibility to Complex Diseases in the Post-Genome Era
Rannala, B. H. (2001) · American Journal of PharmacoGenomics · doi:10.2165/00129785-200101030-00005 · Cited by 84 · see citing works
Tönjes, A., Zeggini, E., Kovacs, P. L., Böttcher, Y., Schleinitz, D., Dietrich, K., Morris, A. P., Enigk, B., Rayner, N. W., Koriath, M., et al. (2009) · European Journal of Human Genetics · doi:10.1038/ejhg.2009.107 · Cited by 79 · see citing works
Family-Based Genome-Wide Association Studies
Benyamin, B., Visscher, P. M., & McRae, A. F. (2009) · Pharmacogenomics · doi:10.2217/14622416.10.2.181 · Cited by 78 · see citing works
Replication of CD58 and CLEC16A as genome-wide significant risk genes for multiple sclerosis
Hoppenbrouwers, I. A., Aulchenko, Y. S., Janssens, A. C. J. W., Ramagopalan, S. V., Broer, L., Kayser, M., Ebers, G. C., Oostra, B. A., van Duijn, C. M., & Hintzen, R. Q. (2009) · Journal of Human Genetics · doi:10.1038/jhg.2009.96 · Cited by 78 · see citing works
Family-based association studies
Zhao, H. (2000) · Statistical Methods in Medical Research · doi:10.1177/096228020000900604 · Cited by 79 · see citing works
Analysis of multilocus models of association
Devlin, B., Roeder, K., & Wasserman, L. (2003) · Genetic Epidemiology · doi:10.1002/gepi.10237 · Cited by 78 · see citing works
Self-citationFc receptor genes and the systemic lupus erythematosus diathesis
Brown, E. E., Edberg, J. C., & Kimberly, R. P. (2007) · Autoimmunity · doi:10.1080/08916930701763710 · Cited by 75 · see citing works
Chen, H., Zhu, X., Zhao, H., & Zhang, S. (2003) · Annals of Human Genetics · doi:10.1046/j.1469-1809.2003.00036.x · Cited by 71 · see citing works
Redden, D. T., Divers, J., Vaughan, L. K., Tiwari, H. K., Beasley, T. M., Fernández, J. R., Kimberly, R. P., Feng, R., Padilla, M. A., Liu, N., et al. (2006) · PLoS Genetics · doi:10.1371/journal.pgen.0020137 · Cited by 71 · see citing works
- Authors
- Bacanu, S.-A., Devlin, B., & Roeder, K.
- Affiliations
- University of Pittsburgh (US)
- Carnegie Mellon University (US)
- Corresponding author
- Bacanu, Silviu-Alin
- Devlin, B.
- Venue
- The American Journal of Human Genetics
- Publisher
- Elsevier BV
- Published
- 2000-06
- Volume
- 66
- Issue
- 6
- Pages
- 1933-1944
- ISSN
- 0002-9297 (ISSN-L)
- PMC
- PMC1378064
- OpenAlex
- W2056866499
- Cited by
- 340
- References
- 35
- Citations by year
- 2026: 2 · 2025: 4 · 2024: 1 · 2023: 3 · 2022: 2 · 2021: 4 · 2020: 4 · 2019: 8 · 2018: 5 · 2016: 3 · 2015: 7 · 2014: 7 · 2013: 6 · 2012: 17
- FWCI
- 14.38
- 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 Institute of Mental Health (MH 57881, P01MH056193, MH 56193)
- 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
- genomic control, population substructure, statistical power, family-based association, case-control association, transmission disequilibrium test, family trios, spurious association, complex traits, disease prevalence, cost comparison
- MeSH terms
- Alleles, Chromosome Mapping, Computer Simulation, Europe, Female, Gene Frequency, Genetics, Population, Genotype, Humans, Male, Models, Genetic, Nuclear Family, Polymorphism, Genetic, Probability, Regression Analysis, Genetic Variation, Linkage Disequilibrium, Genome, Human, Case-Control Studies
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