The DOI matches its Crossref record; 84 of the 84 references it cites were found in a registry or an index.
Finding the missing heritability of complex diseases
Open accessAbstract
Genome-wide association studies have identified hundreds of genetic variants associated with complex human diseases and traits, and have provided valuable insights into their genetic architecture. Most variants identified so far confer relatively small increments in risk, and explain only a small proportion of familial clustering, leading many to question how the remaining, 'missing' heritability can be explained. Here we examine potential sources of missing heritability and propose research strategies, including and extending beyond current genome-wide association approaches, to illuminate the genetics of complex diseases and enhance its potential to enable effective disease prevention or treatment.
Overview
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
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?
The cited source says what the claim attributes to it.
In the citing paper
“In any case, these variants explain only a small proportion of total genetic risk ( 11 ).”
From β-Cell Failure in Type 2 Diabetes: Postulated Mechanisms and Prospects for Prevention and Treatment (2014) · cites this paper as [11]
In the citing paper
“the causal genetic variants thus far identified generally confer less risk than expected from empirical estimates of heritability6.”
From Genome-wide detection of tandem DNA repeats that are expanded in autism (2020) · cites this paper as [6]
In the citing paper
“The disparity between the observed effects of the variants first identified by GWAS and estimates of overall trait heritability (the ‘missing heritability’ conundrum) is now largely resolved47.”
From A brief history of human disease genetics (2020) · cites this paper as [47]
In the citing paper
“loci detected by GWAS almost without exception explain a small minority of the inferred genetic variance5,6”
From Rare and common variants: twenty arguments (2012) · cites this paper as [6]
In the citing paper
“When GWAS began the field was dominated by the simple common disease-common variant (CD-CV) hypothesis1–4 has been refuted in light of the so-called ‘missing heritability problem’”
From Rare and common variants: twenty arguments (2012) · cites this paper as [6]
In the citing paper
“While there has been a very public focus on the failure of GWAS to find the missing heritability5,6, the simplest explanation for this is that the expectations were based on unrealistic prior assumption of effect sizes.”
From Rare and common variants: twenty arguments (2012) · cites this paper as [6]
In the citing paper
“Despite the success of genome wide association (GWA) studies in identifying common single nucleotide variants (SNVs) that contribute to complex diseases1, the vast majority of genetic variants contributing to disease susceptibility are yet to be discovered.”
From Statistical analysis strategies for association studies involving rare variants (2010) · cites this paper as [2]
In the citing paper
“Using a model that assumes an underlying normally distributed but unobserved disease risk score or liability49, the nineteen loci described here account for between 10% (if AMD prevalence is close to 1%) and 30% (if AMD prevalence is closer to 10%) of the variability in disease risk (corresponding to 15–65% of the total genetic contribution to AMD).”
From Seven new loci associated with age-related macular degeneration (2013) · cites this paper as [48]
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Citations
Cites
Introduction to Quantitative Genetics.
Edwards, A. W. F., & Falconer, D. S. (1982) · Biometrics · doi:10.2307/2529912 · Cited by 21,447
Corder, E. H., Saunders, A. M., Strittmatter, W. J., Schmechel, D. E., Gaskell, P. C., Small, G. W., Roses, A. D., Haines, J. L., & Pericak-Vance, M. A. (1993) · Science · doi:10.1126/science.8346443 · Cited by 9,429
Self-citationPrediction of Total Genetic Value Using Genome-Wide Dense Marker Maps
Meuwissen, T. H. E., Hayes, B. J., & Goddard, M. E. (2001) · Genetics · doi:10.1093/genetics/157.4.1819 · Cited by 7,917
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
A second generation human haplotype map of over 3.1 million SNPs
The International HapMap Consortium (2007) · Nature · doi:10.1038/nature06258 · Cited by 4,438
Hindorff, L. A., Sethupathy, P., Junkins, H. A., Ramos, E. M., Mehta, J. P., Collins, F. S., & Manolio, T. A. (2009) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0903103106 · Cited by 4,013
Self-citationGenome-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
Self-citationStrong association of de novo copy number mutations with autism
Sebat, J., Lakshmi, B., Malhotra, D., Troge, J., Lese-Martin, C., Walsh, T., Yamrom, B., Yoon, S., Krasnitz, A., Kendall, J., et al. (2007) · Science · doi:10.1126/science.1138659 · Cited by 2,795
Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease
the NIDDK IBD Genetics Consortium, Barrett, J. C., the Belgian-French IBD Consortium, the Wellcome Trust Case Control Consortium, Hansoul, S., Nicolae, D. L., Cho, J. H., Duerr, R. H., Rioux, J. D., Brant, S. R., et al. (2008) · Nature Genetics · doi:10.1038/ng.175 · Cited by 2,593
Self-citationMcDonald-McGinn, D. M., Sullivan, K. E., Marino, B., Philip, N., Swillen, A., Vorstman, J. A. S., Zackai, E. H., Emanuel, B. S., Vermeesch, J. R., Morrow, B. E., et al. (2015) · Nature Reviews Disease Primers · doi:10.1038/nrdp.2015.71 · Cited by 2,236
Flagged first, then by citations
Research works printed but not linked: 1
- Zeggini, E. et al. Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes. Nature Genet. 40, 638–645 (2008) · DOI · Paper page
Cited by
Sorted by citations
Items 201–300 of 1,079
Meta-analysis of genome-wide association studies for personality
de Moor, M. H. M., Costa, P. T., Terracciano, A., Krueger, R. F., de Geus, E. J. C., Toshiko, T., Penninx, B. W. J. H., Esko, T., Madden, P. A. F., Derringer, J. L., et al. (2010) · Molecular Psychiatry · doi:10.1038/mp.2010.128 · Cited by 389
Casanova, J., Abel, L., & Quintana‐Murci, L. (2011) · Annual Review of Immunology · doi:10.1146/annurev-immunol-030409-101335 · Cited by 377
A population genetic interpretation of GWAS findings for human quantitative traits
Simons, Y. B., Bullaughey, K., Hudson, R. R., & Sella, G. (2018) · PLoS Biology · doi:10.1371/journal.pbio.2002985 · Cited by 367
Natural Variation in Arabidopsis: From Molecular Genetics to Ecological Genomics
Weigel, D. (2011) · PLANT PHYSIOLOGY · doi:10.1104/pp.111.189845 · Cited by 386
Rare MTNR1B variants impairing melatonin receptor 1B function contribute to type 2 diabetes
The Meta-Analysis of Glucose and Insulin-Related Traits Consortium (MAGIC), Bonnefond, A., Clément, N., Fawcett, K., Yengo, L., Vaillant, E., Guillaume, J.-L., Dechaume, A., Payne, F., Roussel, R., et al. (2012) · Nature Genetics · doi:10.1038/ng.1053 · Cited by 363
Self-citationChatterjee, N., Wheeler, B., Sampson, J. N., Hartge, P. A., Chanock, S. J., & Park, J.-H. (2013) · Nature Genetics · doi:10.1038/ng.2579 · Cited by 359
Pathogenesis of human systemic lupus erythematosus: recent advances
Crispín, J. C., Liossis, S. C., Kis‐Tóth, K., Lieberman, L. A., Kyttaris, V. C., Juang, Y., & Tsokos, G. C. (2010) · Trends in Molecular Medicine · doi:10.1016/j.molmed.2009.12.005 · Cited by 367
Association Mapping for Enhancing Maize ( Zea mays L.) Genetic Improvement
Yan, J., Warburton, M. L., & Crouch, J. H. (2011) · Crop Science · doi:10.2135/cropsci2010.04.0233 · Cited by 360
The Tohoku Medical Megabank Project: Design and Mission
Kuriyama, S., Yaegashi, N., Nagami, F., Arai, T., Kawaguchi, Y., Osumi, N., Sakaida, M., Suzuki, Y., Nakayama, K., Hashizume, H., et al. (2016) · Journal of Epidemiology · doi:10.2188/jea.je20150268 · Cited by 356
Paşaniuc, B., & Zaitlen, N. (2013) · eScholarship (California Digital Library) · Cited by 362
Power, R. A., Kyaga, S., Uher, R., MacCabe, J. H., Långström, N., Landen, M., McGuffin, P., Lewis, C. M., Lichtenstein, P., & Svensson, A. C. (2013) · JAMA Psychiatry · doi:10.1001/jamapsychiatry.2013.268 · Cited by 336
A twin approach to unraveling epigenetics
Bell, J. T., & Spector, T. D. (2011) · Trends in Genetics · doi:10.1016/j.tig.2010.12.005 · Cited by 353
Epistasis dominates the genetic architecture of Drosophila quantitative traits
Huang, W., Richards, S., Carbone, M. A., Zhu, D., Anholt, R. R. H., Ayroles, J. F., Duncan, L., Jordan, K. W., Lawrence, F., Magwire, M. M., et al. (2012) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1213423109 · Cited by 355
Self-citationGenomics and the Multifactorial Nature of Human Autoimmune Disease
Cho, J. H., & Gregersen, P. K. (2011) · New England Journal of Medicine · doi:10.1056/nejmra1100030 · Cited by 360
Self-citationGenomic predictors of the maximal O2 uptake response to standardized exercise training programs
Bouchard, C., Sarzynski, M. A., Rice, T. K., Kraus, W. E., Church, T. S., Sung, Y. J., Rao, D. C., & Rankinen, T. (2011) · Journal of Applied Physiology · doi:10.1152/japplphysiol.00973.2010 · Cited by 422
Bringing genome-wide association findings into clinical use
Manolio, T. A. (2013) · Nature Reviews Genetics · doi:10.1038/nrg3523 · Cited by 363
Self-citationAnimal Models to Understand the Etiology and Pathophysiology of Polycystic Ovary Syndrome
Stener‐Victorin, E., Padmanabhan, V., Walters, K. A., Campbell, R. E., Benrick, A., Giacobini, P., Dumesic, D. A., & Abbott, D. H. (2020) · Endocrine Reviews · doi:10.1210/endrev/bnaa010 · Cited by 391
Genetics of Insulin Resistance and the Metabolic Syndrome
Brown, A. E., & Walker, M. (2016) · Current Cardiology Reports · doi:10.1007/s11886-016-0755-4 · Cited by 365
Prediction of Complex Human Traits Using the Genomic Best Linear Unbiased Predictor
Campos, G. D. L., Vazquez, A. I., Fernando, R. L., Klimentidis, Y. C., & Sørensen, D. (2013) · PLoS Genetics · doi:10.1371/journal.pgen.1003608 · Cited by 352
Stress and Inflammation in Coronary Artery Disease: A Review Psychoneuroendocrineimmunology-Based
Fioranelli, M., Bottaccioli, A. G., Bottaccioli, F., Bianchi, M., Rovesti, M., & Roccia, M. G. (2018) · Frontiers in Immunology · doi:10.3389/fimmu.2018.02031 · Cited by 302
Towards identifying genes underlying ecologically relevant traits in Arabidopsis thaliana
Bergelson, J. M., & Roux, F. (2010) · Nature Reviews Genetics · doi:10.1038/nrg2896 · Cited by 365
Lahey, B. B., Van Hulle, C. A., Singh, A. L., Waldman, I. D., & Rathouz, P. J. (2011) · Archives of General Psychiatry · doi:10.1001/archgenpsychiatry.2010.192 · Cited by 341
The impact of rare and low-frequency genetic variants in common disease
Bomba, L., Walter, K., & Soranzo, N. (2017) · Genome biology · doi:10.1186/s13059-017-1212-4 · Cited by 369
Rakyan, V. K., Beyan, H., Down, T. A., Hawa, M. I., Maslau, S., Aden, D., Daunay, A., Busato, F., Mein, C. A., Manfras, B. J., et al. (2011) · PLoS Genetics · doi:10.1371/journal.pgen.1002300 · Cited by 347
Measuring missing heritability: Inferring the contribution of common variants
Golan, D., Lander, E. S., & Rosset, S. (2014) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1419064111 · Cited by 288
Key role for gene dosage and synaptic homeostasis in autism spectrum disorders
Toro, R., Konyukh, M., Delorme, R., Leblond, C., Chaste, P., Fauchereau, F., Coleman, M., Leboyer, M., Gillberg, C., & Bourgeron, T. (2010) · Trends in Genetics · doi:10.1016/j.tig.2010.05.007 · Cited by 331
Association genetics of complex traits in plants
Ingvarsson, P. K., & Street, N. R. (2010) · New Phytologist · doi:10.1111/j.1469-8137.2010.03593.x · Cited by 353
Animal models of psychiatric disorders
Koob, G. F., & Zimmer, A. (2012) · Handbook of clinical neurology · doi:10.1016/b978-0-444-52002-9.00009-7 · Cited by 338
Genetic variation and the de novo assembly of human genomes
Chaisson, M., Wilson, R. K., & Eichler, E. E. (2015) · Nature Reviews Genetics · doi:10.1038/nrg3933 · Cited by 346
Self-citationThe impact of environmental factors in severe psychiatric disorders
Schmitt, A., Malchow, B., Hasan, A., & Falkai, P. (2014) · Frontiers in Neuroscience · doi:10.3389/fnins.2014.00019 · Cited by 322
Epigenetic inheritance and the missing heritability
Trerotola, M., Relli, V., Simeone, P., & Alberti, S. (2015) · Human Genomics · doi:10.1186/s40246-015-0041-3 · Cited by 318
“Epistatic components need to be integrated by estimates of the contribution of non-genetic factors, globally designated as the “missing heritability” [7, 8].”
BackgroundAnstee, Q. M., & Day, C. P. (2013) · Nature Reviews Gastroenterology & Hepatology · doi:10.1038/nrgastro.2013.182 · Cited by 343
Molecular insights into transgenerational non-genetic inheritance of acquired behaviours
Bohacek, J., & Mansuy, I. M. (2015) · Nature Reviews Genetics · doi:10.1038/nrg3964 · Cited by 318
Davis, L. K., Yu, D., Keenan, C. L., Gamazon, E. R., Konkashbaev, A. I., Derks, E. M., Neale, B. M., Yang, J., Lee, S., Evans, P. D., et al. (2013) · PLoS Genetics · doi:10.1371/journal.pgen.1003864 · Cited by 331
Genetic insights in Alzheimer's disease
Bettens, K., Sleegers, K., & Van Broeckhoven, C. (2013) · The Lancet Neurology · doi:10.1016/s1474-4422(12)70259-4 · Cited by 290
Wager, T. D., Atlas, L. Y., Leotti, L. A., & Rilling, J. K. (2011) · The Journal of Neuroscience · doi:10.1523/jneurosci.3420-10.2011 · Cited by 328
Deconstructing the sources of genotype-phenotype associations in humans
Young, A. I., Benonisdottir, S., Przeworski, M., & Kong, A. (2019) · Science · doi:10.1126/science.aax3710 · Cited by 288
Self-citationVisscher, P. M., Hemani, G., Vinkhuyzen, A. A. E., Chen, G., Lee, S., Wray, N. R., Goddard, M. E., & Yang, J. (2014) · PLoS Genetics · doi:10.1371/journal.pgen.1004269 · Cited by 325
Self-citationKarim, L., Takeda, H., Li, L., Druet, T., Arias, J., Baurain, D., Cambisano, N., Davis, S. R., Farnir, F., Grisart, B., et al. (2011) · Nature Genetics · doi:10.1038/ng.814 · Cited by 328
Application of high-dimensional feature selection: evaluation for genomic prediction in man
Bermingham, M. L., Pong‐Wong, R., Spiliopoulou, A., Hayward, C., Rudan, I., Campbell, H., Wright, A. F., Wilson, J. F., Agakov, F. V., Navarro, P., et al. (2015) · Scientific Reports · doi:10.1038/srep10312 · Cited by 334
Resende, M. D. V., Resende, M. F. R., Sansaloni, C., Petroli, C. D., Missiaggia, A. A., Aguiar, A. M., Abad, J. I. M., Takahashi, E. K., Rosado, A. M., de Faria, D. A., et al. (2012) · New Phytologist · doi:10.1111/j.1469-8137.2011.04038.x · Cited by 320
Mapping the Genetic Landscape of Human Cells
Horlbeck, M. A., Xu, A., Wang, M., Bennett, N. K., Park, C. Y., Bogdanoff, D., Adamson, B., Chow, E. D., Kampmann, M., Peterson, T. R., et al. (2018) · Cell · doi:10.1016/j.cell.2018.06.010 · Cited by 319
Dapas, M., Lin, F. T. J., Nadkarni, G. N., Sisk, R., Legro, R. S., Urbanek, M., Hayes, M. G., & Dunaif, A. (2020) · PLOS Medicine · doi:10.1371/journal.pmed.1003132 · Cited by 297
The landscape of human STR variation
Willems, T., Gymrek, M., Highnam, G., The 1000 Genomes Project Consortium, Mittelman, D., & Erlich, Y. (2014) · Genome Research · doi:10.1101/gr.177774.114 · Cited by 283
Uromodulin: from physiology to rare and complex kidney disorders
Devuyst, O., Olinger, E. G., & Rampoldi, L. (2017) · Nature Reviews Nephrology · doi:10.1038/nrneph.2017.101 · Cited by 316
Swanson-Wagner, R. A., Eichten, S. R., Kumari, S., Tiffin, P., Stein, J. C., Ware, D., & Springer, N. M. (2010) · Genome Research · doi:10.1101/gr.109165.110 · Cited by 320
PsoriasisPreprint
Meglio, P. D., Villanova, F., & Nestle, F. O. (2014) · Cold Spring Harbor Perspectives in Medicine · doi:10.1101/cshperspect.a015354 · Cited by 315
Polygenic scoring accuracy varies across the genetic ancestry continuum
Ding, Y., Hou, K., Xu, Z., Pimplaskar, A., Petter, E., Boulier, K. M., Privé, F., Vilhjálmsson, B. J., Loohuis, L. M. O., & Paşaniuc, B. (2023) · Nature · doi:10.1038/s41586-023-06079-4 · Cited by 330
Kuo, C., Grainge, M. J., Valdes, A. M., See, L., Luo, S., Yu, K., Zhang, W., & Doherty, M. (2015) · JAMA Internal Medicine · doi:10.1001/jamainternmed.2015.3528 · Cited by 314
Zhao, B., Luo, T., Li, T., Li, Y., Zhang, J., Shan, Y., Wang, X., Yang, L., Zhou, F., Zhu, Z., et al. (2019) · Nature Genetics · doi:10.1038/s41588-019-0516-6 · Cited by 295
Lung eQTLs to Help Reveal the Molecular Underpinnings of Asthma
Hao, K., Bossé, Y., Nickle, D. C., Paré, P. D., Postma, D. S., Laviolette, M., Sandford, A. J., Hackett, T., Daley, D., Hogg, J. C., et al. (2012) · PLoS Genetics · doi:10.1371/journal.pgen.1003029 · Cited by 302
The conundrums of understanding genetic risks for autism spectrum disorders
State, M. W., & Levitt, P. (2011) · Nature Neuroscience · doi:10.1038/nn.2924 · Cited by 306
Epigenetic modifications in frontal cortex from Alzheimer's disease and bipolar disorder patients
Rao, J. S., Keleshian, V. L., Klein, S. L., & Рапопорт, С. И. (2012) · Translational Psychiatry · doi:10.1038/tp.2012.55 · Cited by 305
Homozygous c.14576G>A variant of RNF213 predicts early-onset and severe form of moyamoya disease
Miyatake, S., Miyake, N., Touho, H., Nishimura-Tadaki, A., Kondo, Y., Okada, I., Tsurusaki, Y., Doi, H., Sakai, H., Saitsu, H., et al. (2012) · Neurology · doi:10.1212/wnl.0b013e318249f71f · Cited by 306
Analysis of copy number variations among diverse cattle breedsPreprint
Liu, G. E., Hou, Y., Zhu, B., Cardone, M. F., Lu, J., Cellamare, A., Mitra, A., Alexander, L. J., Coutinho, L. L., Dell’Aquila, M. E., et al. (2010) · Genome Research · doi:10.1101/gr.105403.110 · Cited by 309
Self-citationProstate cancer in young men: an important clinical entity
Salinas, C. A., Tsodikov, A., Ishak, M. B., & Cooney, K. A. (2014) · Nature Reviews Urology · doi:10.1038/nrurol.2014.91 · Cited by 313
A Unified Approach to the Evolutionary Consequences of Genetic and Nongenetic Inheritance
Day, T., & Russell Bonduriansky, A. (2011) · The American Naturalist · doi:10.1086/660911 · Cited by 305
Panagiotou, O. A., Ioannidis, J. P. A., & for the Genome-Wide Significance Project (2012) · International Journal of Epidemiology · doi:10.1093/ije/dyr178 · Cited by 286
Where Are the Disease-Associated eQTLs?
Umans, B. D., Battle, A., & Gilad, Y. (2021) · Trends in Genetics · doi:10.1016/j.tig.2020.08.009 · Cited by 296
Higasa, K., Miyake, N., Yoshimura, J., Okamura, K., Niihori, T., Saitsu, H., Doi, K., Shimizu, M., Nakabayashi, K., Aoki, Y., et al. (2016) · Journal of Human Genetics · doi:10.1038/jhg.2016.12 · Cited by 304
The expanding scope of DNA sequencing
Shendure, J., & Aiden, E. L. (2012) · Nature Biotechnology · doi:10.1038/nbt.2421 · Cited by 308
Holmen, O. L., Zhang, H., Fan, Y., Hovelson, D. H., Schmidt, E. M., Zhou, W., Guo, Y., Zhang, J., Langhammer, A., Løchen, M., et al. (2014) · Nature Genetics · doi:10.1038/ng.2926 · Cited by 310
Self-citationPhillip, J. M., Aifuwa, I., Walston, J. D., & Wirtz, D. (2015) · Annual Review of Biomedical Engineering · doi:10.1146/annurev-bioeng-071114-040829 · Cited by 304
The heritability of human disease: estimation, uses and abuses.
Tenesa, A., & Haley, C. S. (2013) · Nature Reviews Genetics · doi:10.1038/nrg3377 · Cited by 283
Low-coverage sequencing: Implications for design of complex trait association studiesPreprint
Li, Y., Sidore, C., Kang, H. M., Boehnke, M., & Abecasis, G. R. (2011) · Genome Research · doi:10.1101/gr.117259.110 · Cited by 313
Self-citationKlassen, T., Davis, C., Goldman, A. M., Burgess, D., Chen, T. F., Wheeler, D. A., McPherson, J. D., Bourquin, T., Lewis, L. R., Villasana, D., et al. (2011) · Cell · doi:10.1016/j.cell.2011.05.025 · Cited by 305
Genetics of Type 1 Diabetes: What's Next?
Pociot, F., Akolkar, B., CONCANNON, P. J., Erlich, H. A., Julier, C., Morahan, G., Nierras, C. R., Todd, J. A., Rich, S. S., & Nerup, J. (2010) · Diabetes · doi:10.2337/db10-0076 · Cited by 308
Alexander, E. S., Martin, L. J., Collins, M. H., Kottyan, L. C., Sucharew, H. J., He, H., Mukkada, V. A., Succop, P., Abonia, J. P., Foote, H. L., et al. (2014) · Journal of Allergy and Clinical Immunology · doi:10.1016/j.jaci.2014.07.021 · Cited by 314
- Invited Review - African Indigenous Cattle: Unique Genetic Resources in a Rapidly Changing World
Mwai, O., Hanotte, O., Kwon, Y.-J., & Cho, S. (2015) · Asian-Australasian Journal of Animal Sciences · doi:10.5713/ajas.15.0002r · Cited by 300
Deconstructing a Syndrome: Genomic Insights Into PCOS Causal Mechanisms and Classification
Dapas, M., & Dunaif, A. (2022) · Endocrine Reviews · doi:10.1210/endrev/bnac001 · Cited by 300
Hanson, M. A., Godfrey, K. M., Lillycrop, K. A., Burdge, G. C., & Gluckman, P. D. (2011) · Progress in Biophysics and Molecular Biology · doi:10.1016/j.pbiomolbio.2010.12.008 · Cited by 308
Genotype × environment interaction QTL mapping in plants: lessons from Arabidopsis
El‐Soda, M., Malosetti, M., Zwaan, B. J., Koornneef, M., & Aarts, M. G. M. (2014) · Trends in Plant Science · doi:10.1016/j.tplants.2014.01.001 · Cited by 314
The Role of Genetics in the Etiology of Schizophrenia
Gejman, P. V., Sanders, A. R., & Duan, J. (2010) · Psychiatric Clinics of North America · doi:10.1016/j.psc.2009.12.003 · Cited by 312
Genetics of Nonsyndromic Orofacial Clefts
Rahimov, F., Jugessur, A., & Murray, J. C. (2011) · The Cleft Palate-Craniofacial Journal · doi:10.1597/10-178 · Cited by 305
Evolutionary principles and their practical application
Hendry, A. P., Kinnison, M. T., Heino, M., Day, T., Smith, T. B., Fitt, G. P., Bergstrom, C. T., Oakeshott, J. G., Jørgensen, P. S., Zalucki, M. P., et al. (2011) · Evolutionary Applications · doi:10.1111/j.1752-4571.2010.00165.x · Cited by 310
Donohoe, D. R., & Bultman, S. J. (2012) · Journal of Cellular Physiology · doi:10.1002/jcp.24054 · Cited by 308
Genetics and Pathogenesis of Inflammatory Bowel Disease
Liu, T.-C., & Stappenbeck, T. S. (2016) · Annual Review of Pathology: Mechanisms of Disease · doi:10.1146/annurev-pathol-012615-044152 · Cited by 289
Transethnic meta‐analysis of genomewide association studies
Morris, A. P. (2011) · Genetic Epidemiology · doi:10.1002/gepi.20630 · Cited by 299
Determining the role of microRNAs in psychiatric disorders
Issler, O., & Chen, A. (2015) · Nature Reviews Neuroscience · doi:10.1038/nrn3879 · Cited by 309
Kim, Y. J., Go, M. J., Hu, C., Hong, C. B., Kim, Y. K., Lee, J. Y., Hwang, J., Oh, J. H., Kim, D. J., Kim, N. H., et al. (2011) · Nature Genetics · doi:10.1038/ng.939 · Cited by 296
Gene-Environment Interaction in Psychological Traits and Disorders
Dick, D. M. (2011) · Annual Review of Clinical Psychology · doi:10.1146/annurev-clinpsy-032210-104518 · Cited by 311
Trépo, E., Romeo, S., Zucman‐Rossi, J., & Nahon, P. (2016) · Journal of Hepatology · doi:10.1016/j.jhep.2016.03.011 · Cited by 299
Schork, A., Thompson, W., Pham, P. H., Torkamani, A., Roddey, J., Sullivan, P., Kelsoe, J., O'Donovan, M., Furberg, H., Schork, N., et al. (2013) · PLoS Genetics · doi:10.1371/journal.pgen.1003449 · Cited by 320
Microbial genome-wide association studies: lessons from human GWAS
Power, R. A., Parkhill, J., & de Oliveira, T. (2016) · Nature Reviews Genetics · doi:10.1038/nrg.2016.132 · Cited by 285
So, H.-C., Gui, A. H. S., Cherny, S. S., & Sham, P. C. (2011) · Genetic Epidemiology · doi:10.1002/gepi.20579 · Cited by 289
Heritability and familiality of type 2 diabetes and related quantitative traits in the Botnia Study
Almgren, P., Lehtovirta, M., Isomaa, B., Sarelin, L., Taskinen, M., Lyssenko, V., Tuomi, T., & Groop, L. (2011) · Diabetologia · doi:10.1007/s00125-011-2267-5 · Cited by 275
Walton, E., Hass, J., Liu, J., Roffman, J. L., Bernardoni, F., Roessner, V., Kirsch, M., Schackert, G., Calhoun, V., & Ehrlich, S. (2016) · Schizophrenia Bulletin · doi:10.1093/schbul/sbv074 · Cited by 286
Hochner, H., Friedlander, Y., Calderon-Margalit, R., Meiner, V., Sagy, Y., Avgil-Tsadok, M., Burger, A., Savitsky, B., Siscovick, D. S., & Manor, O. (2012) · Circulation · doi:10.1161/circulationaha.111.070060 · Cited by 306
Salmon, J. E., Heuser, C. C., Triebwasser, M. P., Liszewski, M. K., Kavanagh, D., Roumenina, L. T., Branch, D. W., Goodship, T. H. J., Frémeaux‐Bacchi, V., & Atkinson, J. P. (2011) · PLoS Medicine · doi:10.1371/journal.pmed.1001013 · Cited by 288
Advancing the use of genome-wide association studies for drug repurposing
Reay, W. R., & Cairns, M. J. (2021) · Nature Reviews Genetics · doi:10.1038/s41576-021-00387-z · Cited by 284
Li, S., Zhao, J. H., Luan, J., Ekelund, U., Luben, R., Khaw, K., Wareham, N. J., & Loos, R. J. F. (2010) · PLoS Medicine · doi:10.1371/journal.pmed.1000332 · Cited by 293
DNA copy number variation: Main characteristics, evolutionary significance, and pathological aspects
Pös, O., Radvánszky, J., Buglyó, G., Pös, Z., Rusňáková, D., Nagy, B., & Szemes, T. (2021) · Biomedical Journal · doi:10.1016/j.bj.2021.02.003 · Cited by 302
Hints of hidden heritability in GWAS
Gibson, G. (2010) · Nature Genetics · doi:10.1038/ng0710-558 · Cited by 281
Self-citationManuck, S. B., & McCaffery, J. M. (2014) · Annual Review of Psychology · doi:10.1146/annurev-psych-010213-115100 · Cited by 296
The genetic architecture of economic and political preferences
Benjamin, D. J., Cesarini, D. A., van der Loos, M., Dawes, C. T., Koellinger, P., Magnusson, P. K. E., Chabris, C. F., Conley, D., Laibson, D., Johannesson, M., et al. (2012) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1120666109 · Cited by 283
Self-citationThe deleterious mutation load is insensitive to recent population history.
Simons, Y. B., Turchin, M. C., Pritchard, J. K., & Sella, G. (2014) · Nature Genetics · doi:10.1038/ng.2896 · Cited by 279
Genetics and epigenetics of eating disorders
Bulik, C., Yilmaz, Z., & HArdaway, A. (2015) · Advances in Genomics and Genetics · doi:10.2147/agg.s55776 · Cited by 278
Most Reported Genetic Associations With General Intelligence Are Probably False Positives
Chabris, C. F., Hebert, B. M., Benjamin, D. J., Beauchamp, J. P., Cesarini, D. A., van der Loos, M., Johannesson, M., Magnusson, P. K. E., Lichtenstein, P., Atwood, C., et al. (2012) · Psychological Science · doi:10.1177/0956797611435528 · Cited by 280
A Genome-Wide Association Study of Gestational Diabetes Mellitus in Korean Women
Kwak, S. H., Kim, S., Cho, Y. M., Go, M. J., Cho, Y. S., Choi, S. H., Moon, M. K., Jung, H. S., Shin, H. D., Kang, H. M., et al. (2012) · Diabetes · doi:10.2337/db11-1034 · Cited by 277
Vitiligo: A focus on pathogenesis and its therapeutic implications
Bergqvist, C., & Ezzedine, K. (2021) · The Journal of Dermatology · doi:10.1111/1346-8138.15743 · Cited by 298
Metadata
- Authors
- Manolio, T. A., Collins, F. S., Cox, N. J., Goldstein, D. B., Hindorff, L. A., Hunter, D. J., McCarthy, M. I., Ramos, E. M., Cardon, L. R., Chakravarti, A., Cho, J. H., Guttmacher, A. E., Kong, A., Kruglyak, L., Mardis, E., Rotimi, C. N., Slatkin, M., Valle, D., Whittemore, A. S., Boehnke, M., Clark, A. G., Eichler, E. E., Gibson, G., Haines, J. L., Mackay, T. F. C., McCarroll, S. A., & Visscher, P. M.
- Affiliations
- National Institutes of Health (US)
- University of Chicago (US)
- Duke University (US)
- Harvard University (US)
- Centre for Human Genetics (GB)
- GlaxoSmithKline (United Kingdom) (GB)
- Johns Hopkins University (US)
- Yale University (US)
- deCODE Genetics (Iceland) (IS)
- Howard Hughes Medical Institute (US)
- Washington University in St. Louis (US)
- University of California, Berkeley (US)
- Stanford University (US)
- University of Michigan (US)
- Cornell University (US)
- The University of Queensland (AU)
- Vanderbilt University (US)
- North Carolina State University (US)
- QIMR Berghofer Medical Research Institute (AU)
- Corresponding author
- Manolio, Teri A.
- ORCID
- Manolio, Teri A.
- Collins, Francis S.
- Cox, Nancy J.
- Goldstein, David B.
- Hindorff, Lucia A.
- McCarthy, Mark I.
- Ramos, Erin M.
- Chakravarti, Aravinda
- Cho, Judy H.
- Kong, Augustine
- Kruglyak, Leonid
- Mardis, Elaine
- Rotimi, Charles N.
- Slatkin, Montgomery
- Valle, David
- Whittemore, Alice S.
- Boehnke, Michael
- Clark, Andrew G.
- Eichler, Evan E.
- Gibson, Greg
- Haines, Jonathan L.
- Mackay, Trudy F. C.
- McCarroll, Steven A.
- Visscher, Peter M.
- Venue
- Nature
- Published
- 2009-10
- Volume
- 461
- Issue
- 7265
- Pages
- 747-753
- ISSN
- 0028-0836 (ISSN-L)
- 1476-4687
- PMC
- PMC2831613
- OpenAlex
- W1980991473
- Cited by
- 8,336
- References
- 84
- Citations by year
- 2026: 203 · 2025: 285 · 2024: 318 · 2023: 335 · 2022: 409 · 2021: 482 · 2020: 456 · 2019: 494 · 2018: 460 · 2017: 509 · 2016: 544 · 2015: 593 · 2014: 683 · 2013: 650 · 2012: 781
- FWCI
- 58.06
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- RePEc: Research Papers in Economics (submittedVersion)
- Funders
- National Institutes of Health (5p50gm065509-10)
- National Heart, Lung, and Blood Institute (U01HL084706, R01HL072904)
- National Institute of Mental Health (R01MH084695)
- National Human Genome Research Institute (R01HG003229)
- National Institute of General Medical Sciences (P50-GM065509)
- National Center for Research Resources (UL1RR024992)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Mapping and Diversity in Plants and Animals
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and phenotypic traits in livestock
- Keywords
- missing heritability, complex diseases, genetic architecture, epigenetic variation, gene-environment interaction, gene-gene interaction, polygenic risk, familial aggregation, disease prevention
- MeSH terms
- Genetics, Medical, Humans, Pedigree, Genetic Predisposition to Disease, Genetic Diseases, Inborn, Inheritance Patterns, Genome-Wide Association Study
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
