Rare and low-frequency coding variants alter human adult height
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Height is a highly heritable, classic polygenic trait with approximately 700 common associated variants identified through genome-wide association studies so far. Here, we report 83 height-associated coding variants with lower minor-allele frequencies (in the range of 0.1-4.8%) and effects of up to 2 centimetres per allele (such as those in IHH, STC2, AR and CRISPLD2), greater than ten times the average effect of common variants. In functional follow-up studies, rare height-increasing alleles of STC2 (giving an increase of 1-2 centimetres per allele) compromised proteolytic inhibition of PAPP-A and increased cleavage of IGFBP-4 in vitro, resulting in higher bioavailability of insulin-like growth factors. These 83 height-associated variants overlap genes that are mutated in monogenic growth disorders and highlight new biological candidates (such as ADAMTS3, IL11RA and NOX4) and pathways (such as proteoglycan and glycosaminoglycan synthesis) involved in growth. Our results demonstrate that sufficiently large sample sizes can uncover rare and low-frequency variants of moderate-to-large effect associated with polygenic human phenotypes, and that these variants implicate relevant genes and pathways.
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Rare variants can have a continuum of risk, and a fraction of common variants have large effects, such as APOE in Alzheimer's disease.
“This is not an invariant rule, as rare variants may have a continuum of risk (Marouli et al., 2017), and a fraction of common variants have large effects (e.g., APOE and Alzheimer’s disease).”
From Defining the genetic, genomic, cellular, and diagnostic architectures of psychiatric disorders (2019) · cites this paper as Marouli et al., 2017
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Clustering by Passing Messages Between Data Points
Frey, B. J., & Dueck, D. (2007) · Science · doi:10.1126/science.1136800 · Cited by 6,733 · see citing works
LD Score regression distinguishes confounding from polygenicity in genome-wide association studies
Schizophrenia Working Group of the Psychiatric Genomics Consortium, Bulik-Sullivan, B. K., Loh, P.-R., Finucane, H. K., Ripke, S., Yang, J., Patterson, N., Daly, M. J., Price, A. L., & Neale, B. M. (2015) · Nature Genetics · doi:10.1038/ng.3211 · Cited by 5,559 · see citing works
METAL: fast and efficient meta-analysis of genomewide association scans
Willer, C. J., Li, Y., & Abecasis, G. R. (2010) · Bioinformatics · doi:10.1093/bioinformatics/btq340 · Cited by 5,205 · see citing works
Self-citationXV.—The Correlation between Relatives on the Supposition of Mendelian Inheritance.
Fisher, R. A. (1919) · Transactions of the Royal Society of Edinburgh · doi:10.1017/s0080456800012163 · Cited by 4,387 · see citing works
Boyd, A., Golding, J., Macleod, J., Lawlor, D. A., Fraser, A., Henderson, J., Molloy, L., Ness, A., Ring, S., & Davey Smith, G. (2013) · International Journal of Epidemiology · doi:10.1093/ije/dys064 · Cited by 2,996 · see citing works
A comprehensive 1000 Genomes–based genome-wide association meta-analysis of coronary artery disease
the CARDIoGRAMplusC4D Consortium (2015) · Nature Genetics · doi:10.1038/ng.3396 · Cited by 2,447 · see citing works
Rare-Variant Association Testing for Sequencing Data with the Sequence Kernel Association Test
Wu, M. C., Lee, S., Cai, T., Li, Y., Boehnke, M., & Lin, X. (2011) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2011.05.029 · Cited by 2,317 · see citing works
Self-citationHundreds of variants clustered in genomic loci and biological pathways affect human height
Lango Allen, H., Estrada, K., Lettre, G., Berndt, S. I., Weedon, M. N., Rivadeneira, F., Willer, C. J., Jackson, A. U., Vedantam, S., Raychaudhuri, S., et al. (2010) · Nature · doi:10.1038/nature09410 · Cited by 1,945 · see citing works
Self-citationThe Electronic Medical Records and Genomics (eMERGE) Consortium, Wood, A. R., The MIGen Consortium, The PAGE Consortium, Study, T. L. C., Esko, T., Yang, J., Vedantam, S., Pers, T. H., Gustafsson, S., et al. (2014) · Nature Genetics · doi:10.1038/ng.3097 · Cited by 1,853 · see citing works
Self-citationGenetic Investigation of ANthropometric Traits (GIANT) Consortium, Yang, J., DIAbetes Genetics Replication And Meta-analysis (DIAGRAM) Consortium, Ferreira, T., Morris, A. P., Medland, S. E., Madden, P. A. F., Heath, A. C., Martin, N. G., Montgomery, G. W., et al. (2012) · Nature Genetics · doi:10.1038/ng.2213 · Cited by 1,712 · see citing works
Self-citationEvolution and functional impact of rare coding variation from deep sequencing of human exomes
Tennessen, J. A., Bigham, A. W., O’Connor, T. D., Fu, W., Kenny, E. E., Gravel, S., McGee, S., Do, R., Liu, X., Jun, G., et al. (2012) · Science · doi:10.1126/science.1219240 · Cited by 1,613 · see citing works
Self-citationSecreted antagonists of the Wnt signalling pathway
Kawano, Y., & Kypta, R. (2003) · Journal of Cell Science · doi:10.1242/jcs.00623 · Cited by 1,584 · see citing works
Efficient Bayesian mixed-model analysis increases association power in large cohorts
Loh, P.-R., Tucker, G., Bulik-Sullivan, B. K., Vilhjálmsson, B. J., Finucane, H. K., Salem, R. M., Chasman, D. I., Ridker, P. M., Neale, B. M., Berger, B., et al. (2015) · Nature Genetics · doi:10.1038/ng.3190 · Cited by 1,507 · see citing works
Self-citationA polygenic burden of rare disruptive mutations in schizophrenia
Purcell, S. M., Moran, J. L., Fromer, M., Ruderfer, D., Solovieff, N., Roussos, P., O’Dushlaine, C., Chambert, K., Bergen, S. E., Kähler, A., et al. (2014) · Nature · doi:10.1038/nature12975 · Cited by 1,385 · see citing works
The genetic architecture of type 2 diabetes
Fuchsberger, C., Flannick, J., Teslovich, T. M., Mahajan, A., Agarwala, V., Gaulton, K. J., Ma, C., Fontanillas, P., Moutsianas, L., McCarthy, D. J., et al. (2016) · Nature · doi:10.1038/nature18642 · Cited by 1,051 · see citing works
Self-citationBiological interpretation of genome-wide association studies using predicted gene functions
Pers, T. H., Karjalainen, J. M., Chan, Y., Westra, H.-J., Wood, A. R., Yang, J., Lui, J. C., Vedantam, S., Gustafsson, S., Esko, T., et al. (2015) · Nature Communications · doi:10.1038/ncomms6890 · Cited by 787 · see citing works
Self-citationPooled Association Tests for Rare Variants in Exon-Resequencing Studies
Price, A. L., Kryukov, G. V., de Bakker, P. I. W., Purcell, S. M., Staples, J., Wei, L.-J., & Sunyaev, S. R. (2010) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2010.04.005 · Cited by 755 · see citing works
Study, T. L. C., Yang, J., Bakshi, A., Zhu, Z., Hemani, G., Vinkhuyzen, A. A. E., Lee, S. H., Robinson, M. R., Perry, J. R. B., Nolte, I. M., et al. (2015) · Nature Genetics · doi:10.1038/ng.3390 · Cited by 745 · see citing works
Self-citationHeritability of Adult Body Height: A Comparative Study of Twin Cohorts in Eight Countries
Silventoinen, K., Sammalisto, S., Perola, M., Boomsma, D. I., Cornes, B. K., Davis, C., Dunkel, L., de Lange, M., Harris, J. R., Hjelmborg, J. V. B., et al. (2003) · Twin Research · doi:10.1375/136905203770326402 · Cited by 680 · see citing works
Self-citationSearching for missing heritability: Designing rare variant association studies
Zuk, O., Schaffner, S. F., Samocha, K., Do, R., Hechter, E., Kathiresan, S., Daly, M. J., Neale, B. M., Sunyaev, S. R., & Lander, E. S. (2014) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1322563111 · Cited by 635 · see citing works
Kryukov, G. V., Pennacchio, L. A., & Sunyaev, S. R. (2007) · The American Journal of Human Genetics · doi:10.1086/513473 · Cited by 598 · see citing works
A comprehensive 1000 Genomes-based genome-wide association meta-analysis of coronary artery disease
Nikpay, M., Goel, A., Won, H., Hall, L. M., Willenborg, C., Kanoni, S., Saleheen, D., Kyriakou, T., Nelson, C. P., Hopewell, J. C., et al. (2015) · EUR Research Repository (Erasmus University Rotterdam) · Cited by 581 · see citing works
Self-citationGenomic inflation factors under polygenic inheritance
Yang, J., Weedon, M. N., Purcell, S., Lettre, G., Estrada, K., Willer, C. J., Smith, A. V., Ingelsson, E., O’Connell, J. R., Mangino, M., et al. (2011) · European Journal of Human Genetics · doi:10.1038/ejhg.2011.39 · Cited by 560 · see citing works
Self-citationQuality control and conduct of genome-wide association meta-analyses
Winkler, T. W., Day, F. R., Croteau‐Chonka, D. C., Wood, A. R., Locke, A. E., Mägi, R., Ferreira, T., Fall, T., Graff, M., Justice, A. E., et al. (2014) · Nature Protocols · doi:10.1038/nprot.2014.071 · Cited by 502 · see citing works
Self-citationLoss-of-function mutations in SLC30A8 protect against type 2 diabetes
Go-T2D Consortium, Flannick, J., T2D-GENES Consortium, Thorleifsson, G., Beer, N. L., Jacobs, S. B. R., Grarup, N., Burtt, N. P., Mahajan, A., Fuchsberger, C., et al. (2014) · Nature Genetics · doi:10.1038/ng.2915 · Cited by 492 · see citing works
Self-citationSidore, 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
Self-citationGene expression analysis identifies global gene dosage sensitivity in cancer
Fehrmann, R. S. N., Karjalainen, J. M., Krajewska, M., Westra, H.-J., Maloney, D., Simeonov, A., Pers, T. H., Hirschhorn, J. N., Jansen, R. C., Schultes, E. A., et al. (2015) · Nature Genetics · doi:10.1038/ng.3173 · Cited by 347 · see citing works
Self-citationFast and Rigorous Computation of Gene and Pathway Scores from SNP-Based Summary Statistics
Lamparter, D., Marbach, D., Rueedi, R., Kutalik, Z., & Bergmann, S. (2016) · PLoS Computational Biology · doi:10.1371/journal.pcbi.1004714 · Cited by 312 · see citing works
Self-citationSteinthórsdóttir, V., Þorleifsson, G., Sulem, P., Helgason, H., Grarup, N., Sigurðsson, Á., Helgadottir, H. T., Johannsdottir, H., Magnússon, Ó. Þ., Gudjonsson, S. A., et al. (2014) · Nature Genetics · doi:10.1038/ng.2882 · Cited by 306 · see citing works
Self-citationCohort Profile: TwinsUK and Healthy Ageing Twin Study
Moayyeri, A., Hammond, C. J., Valdes, A. M., & Spector, T. D. (2012) · International Journal of Epidemiology · doi:10.1093/ije/dyr207 · Cited by 239 · see citing works
Self-citationBest Practices and Joint Calling of the HumanExome BeadChip: The CHARGE Consortium
Grove, M. L., Yu, B., Cochran, B. J., Haritunians, T., Bis, J. C., Taylor, K. D., Hansen, M., Borecki, I. B., Cupples, L. A., Fornage, M., et al. (2013) · PLoS ONE · doi:10.1371/journal.pone.0068095 · Cited by 234 · see citing works
Self-citationzCall: a rare variant caller for array-based genotyping
Goldstein, J. I., Crenshaw, A., Carey, J., Grant, G. B., Maguire, J., Fromer, M., O’Dushlaine, C., Moran, J. L., Chambert, K., Stevens, C., et al. (2012) · Bioinformatics · doi:10.1093/bioinformatics/bts479 · Cited by 196 · see citing works
Dauber, A. N., Muñoz-Calvo, M. T., Barrios, V., Domené, H. M., Kløverpris, S., Serra‐Juhé, C., Desikan, V., Pozo, J., Muzumdar, R. H., Martos‐Moreno, G. Á., et al. (2016) · EMBO Molecular Medicine · doi:10.15252/emmm.201506106 · Cited by 194 · see citing works
Self-citationKaraplis, A. C., He, B., Nguyen, M. T., Young, I. D., Semeraro, D., Ozawa, H., & Amizuka, N. (1998) · Endocrinology · doi:10.1210/endo.139.12.6522 · Cited by 192 · see citing works
Meta-analysis of gene-level tests for rare variant association
Liu, D. J., Peloso, G. M., Zhan, X., Holmen, O. L., Zawistowski, M., Feng, S., Nikpay, M., Auer, P. L., Goel, A., Zhang, H., et al. (2013) · Nature Genetics · doi:10.1038/ng.2852 · Cited by 189 · see citing works
Self-citationGuðmundsson, J., Sulem, P., Gudbjartsson, D. F., Másson, G., Agnarsson, B. A., Benediktsdóttir, K. R., Sigurðsson, Á., Magnússon, Ó. Þ., Gudjonsson, S. A., Magnúsdóttir, D. N., et al. (2012) · Nature Genetics · doi:10.1038/ng.2437 · Cited by 183 · see citing works
Self-citationFast and accurate imputation of summary statistics enhances evidence of functional enrichment
Paşaniuc, B., Zaitlen, N., Shi, H., Bhatia, G., Gusev, A., Pickrell, J. K., Hirschhorn, J. N., Strachan, D. P., Patterson, N. J., & Price, A. L. (2014) · Bioinformatics · doi:10.1093/bioinformatics/btu416 · Cited by 180 · see citing works
Self-citationOvergaard, M. T., Haaning, J., Boldt, H. B., Olsen, I. M. L., Laursen, L. S., Christiansen, M., Gleich, G. J., Sottrup‐Jensen, L., Conover, C. A., & Oxvig, C. (2000) · Journal of Biological Chemistry · doi:10.1074/jbc.m001384200 · Cited by 172 · see citing works
Self-citationInterleukin‐11 Receptor Signaling Is Required for Normal Bone Remodeling
Sims, N. A., Jenkins, B., Nakamura, A., Quinn, J. M., Li, R.-L., Gillespie, M. T., Ernst, M., Robb, L., & Martin, T. J. (2005) · Journal of Bone and Mineral Research · doi:10.1359/jbmr.050209 · Cited by 171 · see citing works
Jepsen, M. R., Kløverpris, S., Mikkelsen, J. H., Pedersen, J. H., Füchtbauer, E., Laursen, L. S., & Oxvig, C. (2014) · Journal of Biological Chemistry · doi:10.1074/jbc.m114.611665 · Cited by 166 · see citing works
Self-citationTakeuchi, Y., Watanabe, S. T., Ishii, G., Takeda, S., Nakayama, K., Fukumoto, S., Kaneta, Y., Inoue, D., Matsumoto, T., Harigaya, K., et al. (2002) · Journal of Biological Chemistry · doi:10.1074/jbc.m207804200 · Cited by 143 · 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
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Schwartz, N. B., & Domowicz, M. S. (2002) · Glycobiology · doi:10.1093/glycob/12.4.57r · Cited by 129 · see citing works
RAREMETAL: fast and powerful meta-analysis for rare variants
Feng, S., Liu, D. J., Zhan, X., Wing, M. K., & Abecasis, G. R. (2014) · Bioinformatics · doi:10.1093/bioinformatics/btu367 · Cited by 108 · see citing works
Self-citationOxvig, C., Sand, O., Kristensen, T., Kristensen, L. J., & Sottrup‐Jensen, L. (1994) · Biochimica et Biophysica Acta (BBA) - General Subjects · doi:10.1016/0304-4165(94)90071-x · Cited by 107 · see citing works
Self-citationDanjou, F., Żołędziewska, M., Sidore, C., Steri, M., Busonero, F., Maschio, A., Mulas, A., Perseu, L., Barella, S., Porcu, E., et al. (2015) · Nature Genetics · doi:10.1038/ng.3307 · Cited by 71 · see citing works
Self-citationIto, H., Akiyama, H., Iguchi, H., Iyama, K.-I., Miyamoto, M., Ohsawa, K., & Nakamura, T. (2001) · Journal of Biological Chemistry · doi:10.1074/jbc.m100861200 · Cited by 61 · see citing works
Gyrup, C., & Oxvig, C. (2007) · Biochemistry · doi:10.1021/bi062229i · Cited by 54 · see citing works
Self-citationWakahara, T., Kusu, N., Yamauchi, H., Kimura, I., Konishi, M., Miyake, A., & Itoh, N. (2006) · Developmental Biology · doi:10.1016/j.ydbio.2006.11.041 · Cited by 38 · see citing works
Glycosyltransferase GLT8D2 Positively Regulates ApoB100 Protein Expression in Hepatocytes
Wei, H., Wei, H.-L., Zhao, F., Zhong, L.-P., & Zhan, Y.-T. (2013) · International Journal of Molecular Sciences · doi:10.3390/ijms141121435 · Cited by 20 · see citing works
Loss of SFRP4 Alters Body Size, Food Intake, and Energy Expenditure in Diet-Induced Obese Male Mice.
Mastaitis, J., Eckersdorff, M., Min, S., Xin, Y., Cavino, K., Aglione, J., Okamoto, H., Na, E., Stitt, T., Dominguez, M. G., et al. (2015) · Endocrinology · doi:10.1210/en.2015-1257 · Cited by 17 · see citing works
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Visscher, P. M., Wray, N. R., Zhang, Q., Sklar, P., McCarthy, M. I., Brown, M. A., & Yang, J. (2017) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2017.06.005 · Cited by 3,719 · see citing works
Self-citationAn Expanded View of Complex Traits: From Polygenic to Omnigenic
Boyle, E. A., Li, Y. I., & Pritchard, J. K. (2017) · Cell · doi:10.1016/j.cell.2017.05.038 · Cited by 2,851 · 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
Program, T. M. V., Evangelou, E., Warren, H. R., Mosen-Ansorena, D., Mifsud, B., Pazoki, R., Gao, H., Ntritsos, G., Dimou, N., Cabrera, C. P., et al. (2018) · Nature Genetics · doi:10.1038/s41588-018-0205-x · Cited by 1,381 · see citing works
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Yengo, L., Vedantam, S., Marouli, E., Sidorenko, J., Bartell, E., Sakaue, S., Graff, M., Eliasen, A. U., Jiang, Y., Raghavan, S., et al. (2022) · Nature · doi:10.1038/s41586-022-05275-y · Cited by 825 · see citing works
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Self-citationChen, M.-H., Raffield, L. M., Mousas, A., Sakaue, S., Huffman, J. E., Moscati, A., Trivedi, B., Jiang, T., Akbari, P., Vuckovic, D., et al. (2020) · Cell · doi:10.1016/j.cell.2020.06.045 · Cited by 661 · see citing works
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Zhou, T., Gao, B., Fan, Y., Liu, Y., Feng, S., Cong, Q., Zhang, X., Zhou, Y., Yadav, P. S., Lin, J., et al. (2020) · eLife · doi:10.7554/elife.52779 · Cited by 392 · see citing works
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Barton, A. R., Sherman, M. A., Mukamel, R. E., & Loh, P. (2021) · Nature Genetics · doi:10.1038/s41588-021-00892-1 · Cited by 331 · see citing works
Porcu, E., Rüeger, S., Lepik, K., eQTLGen Consortium, Agbessi, M., Ahsan, H., Alves, I., Andiappan, A., Arindrarto, W., Awadalla, P., et al. (2019) · Nature Communications · doi:10.1038/s41467-019-10936-0 · Cited by 322 · see citing works
Self-citationExploiting the GTEx resources to decipher the mechanisms at GWAS loci
Barbeira, A., Bonazzola, R., Gamazon, E. R., Liang, Y., Park, Y., Kim-Hellmuth, S., Wang, G. T., Jiang, Z., Zhou, D., Hormozdiari, F., et al. (2021) · Genome biology · doi:10.1186/s13059-020-02252-4 · Cited by 307 · see citing works
Self-citationDeconstructing 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 · see citing works
Karczewski, K. J., Solomonson, M., Chao, K. R., Goodrich, J. K., Tiao, G., Lu, W., Riley-Gillis, B. M., Tsai, E. A., Kim, H. I., Zheng, X., et al. (2022) · Cell Genomics · doi:10.1016/j.xgen.2022.100168 · Cited by 284 · see citing works
Self-citationAssessment of network module identification across complex diseases
Choobdar, S., Ahsen, M. E., Crawford, J., Tomasoni, M., Fang, T., Lamparter, D., Lin, J., Hescott, B. J., Hu, X., Mercer, J., et al. (2019) · Nature Methods · doi:10.1038/s41592-019-0509-5 · Cited by 298 · see citing works
Self-citationCommon Disease Is More Complex Than Implied by the Core Gene Omnigenic Model
Wray, N. R., Wijmenga, C., Sullivan, P. F., Yang, J., & Visscher, P. M. (2018) · Cell · doi:10.1016/j.cell.2018.05.051 · Cited by 291 · see citing works
Identification of nine new susceptibility loci for endometrial cancer
O’Mara, T. A., Glubb, D. M., Amant, F. C., Annibali, D., Ashton, K. A., Attia, J., Auer, P. L., Beckmann, M. W., Black, A., Bolla, M. K., et al. (2018) · Nature Communications · doi:10.1038/s41467-018-05427-7 · Cited by 285 · see citing works
Self-citationDeconstructing 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 · see citing works
ADAMTS proteins in human disorders
Mead, T. J., & Apte, S. (2018) · Matrix Biology · doi:10.1016/j.matbio.2018.06.002 · Cited by 281 · see citing works
Timmers, P. R. H. J., Mounier, N., Läll, K., Fischer, K., Zheng, N., Feng, X., Bretherick, A. D., Clark, D. W., Agbessi, M. D. T., Ahsan, H., et al. (2019) · eLife · doi:10.7554/elife.39856 · Cited by 277 · see citing works
Self-citationPei, Y., Liu, Y., Yang, X., Zhang, H., Feng, G.-J., Wei, X., & Zhang, L. (2020) · Communications Biology · doi:10.1038/s42003-020-01334-0 · Cited by 271 · see citing works
Self-citationPopulation structure in genetic studies: Confounding factors and mixed models
Sul, J. H., Martin, L. S., & Eskin, E. (2018) · PLoS Genetics · doi:10.1371/journal.pgen.1007309 · Cited by 264 · see citing works
40 YEARS OF IGF1: IGF-binding proteins
Bach, L. A. (2017) · Journal of Molecular Endocrinology · doi:10.1530/jme-17-0254 · Cited by 253 · see citing works
Advances in genetics of migraine
Sutherland, H. G. E., Albury, C. L., & Griffiths, L. R. (2019) · The Journal of Headache and Pain · doi:10.1186/s10194-019-1017-9 · Cited by 238 · see citing works
Zhou, W., Zhao, Z., Nielsen, J. B., Fritsche, L. G., LeFaive, J., Taliun, S. A. G., Bi, W., Gabrielsen, M. E., Daly, M. J., Neale, B. M., et al. (2020) · Nature Genetics · doi:10.1038/s41588-020-0621-6 · Cited by 218 · see citing works
Self-citationMõttus, R., Wood, D., Condon, D. M., Back, M. D., Baumert, A., Costantini, G., Epskamp, S., Greiff, S., Johnson, W., Lukaszewski, A. W., et al. (2020) · European Journal of Personality · doi:10.1002/per.2311 · Cited by 229 · see citing works
Collaborators, N., Wu, L., kConFab/AOCS Investigators, Shi, W., Long, J., Guo, X., Michailidou, K., Beesley, J., Bolla, M. K., Shu, X., et al. (2018) · Nature Genetics · doi:10.1038/s41588-018-0132-x · Cited by 205 · see citing works
Self-citationSurendran, P., Feofanova, E. V., Lahrouchi, N., Ντάλλα, Ι., Karthikeyan, S., Cook, J. P., Chen, L., Mifsud, B., Yao, C., Kraja, A. T., et al. (2020) · Nature Genetics · doi:10.1038/s41588-020-00713-x · Cited by 212 · see citing works
Self-citationGenetics of Obesity: What We Have Learned Over Decades of Research
Bouchard, C. (2021) · Obesity · doi:10.1002/oby.23116 · Cited by 219 · see citing works
Phenotype risk scores identify patients with unrecognized Mendelian disease patterns
Bastarache, L. A., Hughey, J., Hebbring, S. J., Marlo, J. E., Zhao, W., Ho, W., Driest, S. L. V., McGregor, T. L., Mosley, J. D., Wells, Q. S., et al. (2018) · Science · doi:10.1126/science.aal4043 · Cited by 210 · see citing works
Self-citationMissing heritability of complex diseases: case solved?
Génin, E. (2019) · Human Genetics · doi:10.1007/s00439-019-02034-4 · Cited by 210 · see citing works
Coupé, C., Oh, Y. M., Dediu, D., & Pellegrino, F. (2019) · Science Advances · doi:10.1126/sciadv.aaw2594 · Cited by 201 · see citing works
Exome sequencing of Finnish isolates enhances rare-variant association power
Locke, A. E., Steinberg, K. M., Chiang, C. W. K., Service, S. K., Havulinna, A. S., Stell, L., Pirinen, M., Abel, H., Chiang, C., Fulton, R. S., et al. (2019) · Nature · doi:10.1038/s41586-019-1457-z · Cited by 170 · see citing works
Self-citationCharacterizing rare and low-frequency height-associated variants in the Japanese population
Akiyama, M., Ishigaki, K., Sakaue, S., Momozawa, Y., Horikoshi, M., Hirata, M., Matsuda, K., Ikegawa, S., Takahashi, A., Kanai, M., et al. (2019) · Nature Communications · doi:10.1038/s41467-019-12276-5 · Cited by 171 · see citing works
Low-Frequency and Rare-Coding Variation Contributes to Multiple Sclerosis Risk
Mitrovič, M., Patsopoulos, N. A., Beecham, A. H., Dankowski, T., Goris, A., Dubois, B., D'hooghe, M. B., Lemmens, R., Damme, P. V., Søndergaard, H. B., et al. (2018) · Cell · doi:10.1016/j.cell.2018.09.049 · Cited by 172 · see citing works
Self-citationZhao, J., Sauvage, C., Zhao, J., Frédérique Bitton, C., Bauchet, G. J., Liu, D., Huang, S., Tieman, D. M., Klee, H. J., & Causse, M. (2019) · Nature Communications · doi:10.1038/s41467-019-09462-w · Cited by 173 · see citing works
Self-citationJurgens, S. J., Choi, S. H., Morrill, V. N., Chaffin, M. D., Pirruccello, J. P., Halford, J. L., Weng, L.-C. C., Nauffal, V. D., Roselli, C., Hall, A. W., et al. (2022) · Nature Genetics · doi:10.1038/s41588-021-01011-w · Cited by 158 · see citing works
Self-citationStyrkársdóttir, U., Lund, S. H., Þorleifsson, G., Zink, F., Stefánsson, Ó. A., Sigurdsson, J. K., Juliusson, K., Bjarnadóttir, K., Sigurbjörnsdóttir, S., Jonsson, S., et al. (2018) · Nature Genetics · doi:10.1038/s41588-018-0247-0 · Cited by 167 · see citing works
Association mapping in plants in the post-GWAS genomics era
Gupta, P. K., Kulwal, P. L., & Jaiswal, V. (2019) · Advances in genetics · doi:10.1016/bs.adgen.2018.12.001 · Cited by 163 · see citing works
Accurate Genomic Prediction of Human Height
Lello, L., Avery, S. G., Tellier, L. C. A. M., Vazquez, A. I., Campos, G. D. L., & Hsu, S. (2018) · Genetics · doi:10.1534/genetics.118.301267 · Cited by 164 · see citing works
Gazal, S., Loh, P.-R., Finucane, H. K., Ganna, A., Schoech, A., Sunyaev, S., & Price, A. L. (2018) · Nature Genetics · doi:10.1038/s41588-018-0231-8 · Cited by 154 · see citing works
Practicing precision medicine with intelligently integrative clinical and multi-omics data analysis
Ahmed, Z. (2020) · Human Genomics · doi:10.1186/s40246-020-00287-z · Cited by 154 · see citing works
Reference quality assembly of the 3.5-Gb genome of Capsicum annuum from a single linked-read library
Hulse‐Kemp, A. M., Maheshwari, S., Stoffel, K. M., Hill, T. A., Jaffe, D. B., Williams, S. R., Weisenfeld, N., Ramakrishnan, S., Kumar, V., Shah, P., et al. (2018) · Horticulture Research · doi:10.1038/s41438-017-0011-0 · Cited by 153 · see citing works
Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature
Hauer, N. N., Popp, B., Eva, S., Schuhmann, S., Heath, K. E., Hisado-Oliva, A., Klinger, P., Kraus, C. S., Trautmann, U., Zenker, M., et al. (2017) · Genetics in Medicine · doi:10.1038/gim.2017.159 · Cited by 141 · see citing works
Disorders of IGFs and IGF-1R signaling pathways
Forbes, B. E., Blyth, A. J., & Wit, J. M. (2020) · Molecular and Cellular Endocrinology · doi:10.1016/j.mce.2020.111035 · Cited by 140 · see citing works
MC3R links nutritional state to childhood growth and the timing of puberty
Lam, B., Williamson, A., Finer, S., Day, F. R., Tadross, J. A., Soares, A. G., Wade, K. H., Sweeney, P. R., Bedenbaugh, M. N., Porter, D. T., et al. (2021) · Nature · doi:10.1038/s41586-021-04088-9 · Cited by 138 · see citing works
Self-citationGene hunting with hidden Markov model knockoffs
Sesia, M., Sabatti, C., & Candès, E. J. (2018) · Biometrika · doi:10.1093/biomet/asy033 · Cited by 139 · see citing works
Genome-wide rare variant analysis for thousands of phenotypes in over 70,000 exomes from two cohorts
Cirulli, E. T., White, S., Read, R. W., Elhanan, G., Metcalf, W. J., Tanudjaja, F., Fath, D. M., Sandoval, E., Isaksson, M., Schlauch, K. A., et al. (2020) · Nature Communications · doi:10.1038/s41467-020-14288-y · Cited by 135 · see citing works
The Cambridge Handbook of Personality Psychology
(2020) · Cambridge University Press eBooks · doi:10.1017/9781108264822 · Cited by 140 · see citing works
Advances in genome-wide association studies of complex traits in rice
Wang, Q., Jiali, T., Han, B., & Huang, X. (2019) · Theoretical and Applied Genetics · doi:10.1007/s00122-019-03473-3 · Cited by 132 · see citing works
Quantifying the impact of rare and ultra-rare coding variation across the phenotypic spectrum
Ganna, A., Satterstrom, F. K., Zekavat, S. M., Das, I., Kurki, M. I., Churchhouse, C., Alfoldi, J., Martin, A. R., Havulinna, A. S., Byrnes, A., et al. (2018) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2018.05.002 · Cited by 110 · see citing works
Self-citationSelective trade-offs maintain alleles underpinning complex trait variation in plants
Troth, A., Puzey, J. R., Kim, R. S., Willis, J. H., & Kelly, J. K. (2018) · Science · doi:10.1126/science.aat5760 · Cited by 122 · see citing works
Sinclair‐Waters, M., Ødegård, J., Korsvoll, S. A., Moen, T., Lien, S., Primmer, C. R., & Barson, N. J. (2020) · Genetics Selection Evolution · doi:10.1186/s12711-020-0529-8 · Cited by 118 · see citing works
Functional rare and low frequency variants in BLK and BANK1 contribute to human lupus
Jiang, S., Athanasopoulos, V., Ellyard, J. I., Chuah, A., Cappello, J. Y., Cook, A., Prabhu, S. B., Cardenas, J., Gu, J., Stanley, M., et al. (2019) · Nature Communications · doi:10.1038/s41467-019-10242-9 · Cited by 121 · see citing works
Genomic architecture of phenotypic extremes in a wild cervid
Anderson, S. J., Côté, S. D., Richard, J. H., & Shafer, A. B. A. (2022) · BMC Genomics · doi:10.1186/s12864-022-08333-x · Cited by 124 · see citing works
Qian, J., Tanigawa, Y., Du, W., Aguirre, M., Chang, C. C., Tibshirani, R. J., Rivas, M. A., & Hastie, T. J. (2020) · PLoS Genetics · doi:10.1371/journal.pgen.1009141 · Cited by 116 · see citing works
Self-citationMetcalfe, R. D., Putoczki, T. L., & Griffin, M. D. W. (2020) · Frontiers in Immunology · doi:10.3389/fimmu.2020.01424 · Cited by 112 · see citing works
The genomic origins of the world’s first farmers
Marchi, N., Winkelbach, L., Schulz, I., Brami, M., Hofmanová, Z., Blöcher, J., Reyna-Blanco, C. S., Diekmann, Y., Thiery, A. P., Kapopoulou, A., et al. (2022) · Cell · doi:10.1016/j.cell.2022.04.008 · Cited by 102 · see citing works
GWAS of bone size yields twelve loci that also affect height, BMD, osteoarthritis or fractures
Styrkársdóttir, U., Stefánsson, Ó. A., Gunnarsdóttir, K., Þorleifsson, G., Lund, S. H., Stefánsdóttir, L., Juliusson, K., Agustsdottir, A. B., Zink, F., Halldorsson, G. H., et al. (2019) · Nature Communications · doi:10.1038/s41467-019-09860-0 · Cited by 112 · see citing works
Self-citationThe genetics of depression: successful genome-wide association studies introduce new challenges
Ormel, J., Hartman, C. A., & Snieder, H. (2019) · Translational Psychiatry · doi:10.1038/s41398-019-0450-5 · Cited by 107 · see citing works
One level up: abnormal proteolytic regulation of IGF activity plays a role in human pathophysiology
Argente, J., Chowen, J. A., Jurado, L. A. P., Frystyk, J., & Oxvig, C. (2017) · EMBO Molecular Medicine · doi:10.15252/emmm.201707950 · Cited by 110 · see citing works
Self-citationConvergence between biological, behavioural and genetic determinants of obesity
Ghosh, S., & Bouchard, C. (2017) · Nature Reviews Genetics · doi:10.1038/nrg.2017.72 · Cited by 108 · see citing works
Integrating Clinical and Multiple Omics Data for Prognostic Assessment across Human Cancers
Zhu, B., Song, N., Shen, R., Arora, A., Machiela, M. J., Song, L., Landi, M. T., Ghosh, D., Chatterjee, N., Baladandayuthapani, V., et al. (2017) · Scientific Reports · doi:10.1038/s41598-017-17031-8 · Cited by 109 · see citing works
From forensic epigenetics to forensic epigenomics: broadening DNA investigative intelligence
Vidaki, A., & Kayser, M. (2017) · Genome biology · doi:10.1186/s13059-017-1373-1 · Cited by 108 · see citing works
Perkins, B. A., Caskey, C. T., Brar, P., Dec, E., Karow, D. S., Kahn, A. M., Hou, Y. C., Shah, N., Boeldt, D., Coughlin, E., et al. (2018) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1706096114 · Cited by 104 · see citing works
Justice, A. E., Karaderi, T., Highland, H. M., Young, K. L., Graff, M., Lu, Y., Turcot, V., Auer, P. L., Fine, R. S., Guo, X., et al. (2019) · Nature Genetics · doi:10.1038/s41588-018-0334-2 · Cited by 98 · see citing works
Self-citationMeta-analysis fine-mapping is often miscalibrated at single-variant resolution
Kanai, M., Elzur, R., Zhou, W., Zhou, W., Kanai, M., Wu, K.-H., Rasheed, H., Tsuo, K., Hirbo, J. B., Wang, Y., et al. (2022) · Cell Genomics · doi:10.1016/j.xgen.2022.100210 · Cited by 99 · see citing works
Self-citationStatistical power in genome-wide association studies and quantitative trait locus mapping
Wang, M., & Xu, S. (2019) · Heredity · doi:10.1038/s41437-019-0205-3 · Cited by 92 · see citing works
TEC Monitoring by Using Satellite Positioning Systems
Jakowski, N. (1996) · elib (German Aerospace Center) · Cited by 97 · see citing works
Emdin, C. A., Khera, A. V., Chaffin, M. D., Klarin, D. M., Natarajan, P., Aragam, K. G., Haas, M. E., Bick, A. G., Zekavat, S. M., Nomura, A., et al. (2018) · Nature Communications · doi:10.1038/s41467-018-03911-8 · Cited by 89 · see citing works
Self-citationGenome‐wide association studies in Crohn's disease: Past, present and future
Verstockt, B., Smith, K. G. C., & Lee, J. C. (2018) · Clinical & Translational Immunology · doi:10.1002/cti2.1001 · Cited by 92 · see citing works
Regulation and function of insulin and insulin-like growth factor receptor signalling
Choi, E., Duan, C., & Bai, X. (2025) · Nature Reviews Molecular Cell Biology · doi:10.1038/s41580-025-00826-3 · Cited by 93 · see citing works
Growth hormone therapy in children; research and practice – A review
Collett‐Solberg, P. F., Jorge, A. A. L., Boguszewski, M. C. D. S., Miller, B. S., Choong, C. S., Cohen, P., Hoffman, A. R., Luo, X., Radovick, S., & Saenger, P. H. (2018) · Growth Hormone & IGF Research · doi:10.1016/j.ghir.2018.12.004 · Cited by 93 · see citing works
Rare variants contribute disproportionately to quantitative trait variation in yeast
Bloom, J. S., Boocock, J., Treusch, S., Sadhu, M. J., Day, L., Oates-Barker, H., & Kruglyak, L. (2019) · eLife · doi:10.7554/elife.49212 · Cited by 93 · see citing works
McAllister, B., Donaldson, J., Binda, C. S., Powell, S., Chughtai, U., Edwards, G., Stone, J., Lobanov, S. V., Elliston, L., Schuhmacher, L.-N., et al. (2022) · Nature Neuroscience · doi:10.1038/s41593-022-01033-5 · Cited by 89 · see citing works
Macé, A., Tuke, M. A., Deelen, P., Kristiansson, K., Mattsson, H., Nõukas, M., Sapkota, Y., Schick, U. M., Porcu, E., Rüeger, S., et al. (2017) · Nature Communications · doi:10.1038/s41467-017-00556-x · Cited by 88 · see citing works
Self-citationGenetic contributions to variation in human stature in prehistoric Europe
Cox, S. L., Ruff, C. B., Maier, R. M., & Mathieson, I. (2019) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1910606116 · Cited by 86 · see citing works
Stanniocalcin 2 (STC2): a universal tumour biomarker and a potential therapeutical target
Qie, S., & Sang, N. (2022) · Journal of Experimental & Clinical Cancer Research · doi:10.1186/s13046-022-02370-w · Cited by 87 · see citing works
Multigene Sequencing Analysis of Children Born Small for Gestational Age With Isolated Short Stature
Freire, B. L., Homma, T. K., Funari, M. F. A., Lerário, A. M., Vasques, G. A., Malaquias, A. C., Arnhold, I. J. P., & Jorge, A. A. L. (2019) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2018-01971 · Cited by 90 · see citing works
Temperament and brain networks of attention
Posner, M. I., & Rothbart, M. K. (2018) · Philosophical Transactions of the Royal Society B Biological Sciences · doi:10.1098/rstb.2017.0254 · Cited by 87 · see citing works
Ishizuka, K., Fujita, Y., Kawabata, T., Kimura, H., Iwayama, Y., Inada, T., Okahisa, Y., Egawa, J., Usami, M., Kushima, I., et al. (2017) · Translational Psychiatry · doi:10.1038/tp.2017.173 · Cited by 82 · see citing works
Noble, L. M., Chelo, I. M., Guzella, T., Afonso, B., Riccardi, D., Ammerman, P., Dayarian, A., Carvalho, S., Crist, A. B., Pino-Querido, A., et al. (2017) · Genetics · doi:10.1534/genetics.117.300406 · Cited by 83 · see citing works
- Authors
- Marouli, E., Graff, M., Medina-Gomez, C., Lo, K. S., Wood, A. R., Kjaer, T. R., Fine, R. S., Lu, Y., Schurmann, C., Highland, H. M., Rüeger, S., Thorleifsson, G., Justice, A. E., Lamparter, D., Stirrups, K. E., Turcot, V., Young, K. L., Winkler, T. W., Esko, T., Karaderi, T., Locke, A. E., Masca, N. G. D., Ng, M. C. Y., Mudgal, P., Rivas, M. A., Vedantam, S., Mahajan, A., Guo, X., Abecasis, G., Aben, K. K., Adair, L. S., Alam, D. S., Albrecht, E., Allin, K. H., Allison, M., Amouyel, P., Appel, E. V., Arveiler, D., Asselbergs, F. W., Auer, P. L., Balkau, B., Banas, B., Bang, L. E., Benn, M., Bergmann, S., Bielak, L. F., Blüher, M., Boeing, H., Boerwinkle, E., Böger, C. A., Bonnycastle, L. L., Bork-Jensen, J., Bots, M. L., Bottinger, E. P., Bowden, D. W., Brandslund, I., Breen, G., Brilliant, M. H., Broer, L., Burt, A. A., Butterworth, A. S., Carey, D. J., Caulfield, M. J., Chambers, J. C., Chasman, D. I., Chen, Y.-D. I., Chowdhury, R., Christensen, C., Chu, A. Y., Cocca, M., Collins, F. S., Cook, J. P., Corley, J., Galbany, J. C., Cox, A. J., Cuellar-Partida, G., Danesh, J., Davies, G., de Bakker, P. I. W., de Borst, G. J., de Denus, S., de Groot, M. C. H., de Mutsert, R., Deary, I. J., Dedoussis, G., Demerath, E. W., den Hollander, A. I., Dennis, J. G., Di Angelantonio, E., Drenos, F., Du, M., Dunning, A. M., Easton, D. F., Ebeling, T., Edwards, T. L., Ellinor, P. T., Elliott, P., Evangelou, E., Farmaki, A.-E., Faul, J. D., Feitosa, M. F., Feng, S., Ferrannini, E., Ferrario, M. M., Ferrieres, J., Florez, J. C., Ford, I., Fornage, M., Franks, P. W., Frikke-Schmidt, R., Galesloot, T. E., Gan, W., Gandin, I., Gasparini, P., Giedraitis, V., Giri, A., Girotto, G., Gordon, S. D., Gordon-Larsen, P., Gorski, M., Grarup, N., Grove, M. L., Gudnason, V., Gustafsson, S., Hansen, T., Harris, K. M., Harris, T. B., Hattersley, A. T., Hayward, C., He, L., Heid, I. M., Heikkilä, K., Helgeland, Ø., Hernesniemi, J., Hewitt, A. W., Hocking, L. J., Hollensted, M., Holmen, O. L., Hovingh, G. K., Howson, J. M. M., Hoyng, C. B., Huang, P. L., Hveem, K., Ikram, M. A., Ingelsson, E., Jackson, A. U., Jansson, J.-H., Jarvik, G. P., Jensen, G. B., Jhun, M. A., Jia, Y., Jiang, X., Johansson, S., Jørgensen, M. E., Jørgensen, T., Jousilahti, P., Jukema, J. W., Kahali, B., Kahn, R. S., Kähönen, M., Kamstrup, P. R., Kanoni, S., Kaprio, J., Karaleftheri, M., Kardia, S. L. R., Karpe, F., Kee, F., Keeman, R., Kiemeney, L. A., Kitajima, H., Kluivers, K. B., Kocher, T., Komulainen, P., Kontto, J., Kooner, J. S., Kooperberg, C., Kovacs, P., Kriebel, J., Kuivaniemi, H., Küry, S., Kuusisto, J., La Bianca, M., Laakso, M., Lakka, T. A., Lange, E. M., Lange, L. A., Langefeld, C. D., Langenberg, C., Larson, E. B., Lee, I.-T., Lehtimäki, T., Lewis, C. E., Li, H., Li, J., Li-Gao, R., Lin, H., Lin, L.-A., Lin, X., Lind, L., Lindström, J., Linneberg, A., Liu, Y., Liu, Y., Lophatananon, A., Luan, J., Lubitz, S. A., Lyytikäinen, L.-P., Mackey, D. A., Madden, P. A. F., Manning, A. K., Männistö, S., Marenne, G., Marten, J., Martin, N. G., Mazul, A. L., Meidtner, K., Metspalu, A., Mitchell, P., Mohlke, K. L., Mook-Kanamori, D. O., Morgan, A., Morris, A. D., Morris, A. P., Müller-Nurasyid, M., Munroe, P. B., Nalls, M. A., Nauck, M., Nelson, C. P., Neville, M., Nielsen, S. F., Nikus, K., Njølstad, P. R., Nordestgaard, B. G., Ntalla, I., O'Connel, J. R., Oksa, H., Loohuis, L. M. O., Ophoff, R. A., Owen, K. R., Packard, C. J., Padmanabhan, S., Palmer, C. N. A., Pasterkamp, G., Patel, A. P., Pattie, A., Pedersen, O., Peissig, P. L., Peloso, G. M., Pennell, C. E., Perola, M., Perry, J. A., Perry, J. R. B., Person, T. N., Pirie, A., Polasek, O., Posthuma, D., Raitakari, O. T., Rasheed, A., Rauramaa, R., Reilly, D. F., Reiner, A. P., Renström, F., Ridker, P. M., Rioux, J. D., Robertson, N., Robino, A., Rolandsson, O., Rudan, I., Ruth, K. S., Saleheen, D., Salomaa, V., Samani, N. J., Sandow, K., Sapkota, Y., Sattar, N., Schmidt, M. K., Schreiner, P. J., Schulze, M. B., Scott, R. A., Segura-Lepe, M. P., Shah, S., Sim, X., Sivapalaratnam, S., Small, K. S., Smith, A. V., Smith, J. A., Southam, L., Spector, T. D., Speliotes, E. K., Starr, J. M., Steinthorsdottir, V., Stringham, H. M., Stumvoll, M., Surendran, P., ‘t Hart, L. M., Tansey, K. E., Tardif, J.-C., Taylor, K. D., Teumer, A., Thompson, D. J., Thorsteinsdottir, U., Thuesen, B. H., Tönjes, A., Tromp, G., Trompet, S., Tsafantakis, E., Tuomilehto, J., Tybjaerg-Hansen, A., Tyrer, J. P., Uher, R., Uitterlinden, A. G., Ulivi, S., van der Laan, S. W., Van Der Leij, A. R., van Duijn, C. M., van Schoor, N. M., van Setten, J., Varbo, A., Varga, T. V., Varma, R., Edwards, D. R. V., Vermeulen, S. H., Vestergaard, H., Vitart, V., Vogt, T. F., Vozzi, D., Walker, M., Wang, F., Wang, C. A., Wang, S., Wang, Y., Wareham, N. J., Warren, H. R., Wessel, J., Willems, S. M., Wilson, J. G., Witte, D. R., Woods, M. O., Wu, Y., Yaghootkar, H., Yao, J., Yao, P., Yerges-Armstrong, L. M., Young, R., Zeggini, E., Zhan, X., Zhang, W., Zhao, J. H., Zhao, W., Zhao, W., Zheng, H., Zhou, W., The EPIC-InterAct Consortium, CHD Exome+ Consortium, ExomeBP Consortium, T2D-Genes Consortium, GoT2D Genes Consortium, Global Lipids Genetics Consortium, ReproGen Consortium, MAGIC Investigators, Rotter, J. I., Boehnke, M., Kathiresan, S., McCarthy, M. I., Willer, C. J., Stefansson, K., Borecki, I. B., Liu, D. J., North, K. E., Heard-Costa, N. L., Pers, T. H., Lindgren, C. M., Oxvig, C., Kutalik, Z., Rivadeneira, F., Loos, R. J. F., Frayling, T. M., Hirschhorn, J. N., Deloukas, P., & Lettre, G.
- Affiliations
- Queen Mary University of London (GB)
- University of North Carolina at Chapel Hill (US)
- Montreal Heart Institute (CA)
- University of Exeter (GB)
- Broad Institute (US)
- Vanderbilt University (US)
- Icahn School of Medicine at Mount Sinai (US)
- SIB Swiss Institute of Bioinformatics (CH)
- University of Regensburg (DE)
- Centre for Human Genetics (GB)
- Washington University in St. Louis (US)
- University of Leicester (GB)
- Wake Forest University Health Sciences (US)
- Harbor–UCLA Medical Center (US)
- Radboud University Medical Center (NL)
- Helmholtz Munich (DE)
- University of Copenhagen (DK)
- University of California San Diego (US)
- Inserm (FR)
- Hôpitaux Universitaires de Strasbourg (FR)
- University Medical Center Utrecht (NL)
- University of Wisconsin–Milwaukee (US)
- University Hospital Regensburg (DE)
- Copenhagen University Hospital (DK)
- University of Michigan (US)
- IFB Adiposity Diseases (DE)
- German Institute of Human Nutrition (DE)
- Baylor College of Medicine (US)
- National Institutes of Health (US)
- University of Southern Denmark (DK)
- King's College London (GB)
- Marshfield Clinic Research Foundation (US)
- Erasmus MC (NL)
- University of Washington (US)
- University of Cambridge (GB)
- Imperial College Healthcare NHS Trust (GB)
- Lillebaelt Hospital (DK)
- Harvard University (US)
- University of Trieste (IT)
- University of Liverpool (GB)
- University of Edinburgh (GB)
- Griffith University (AU)
- Harokopio University of Athens (GR)
- University of Minnesota (US)
- University of Bristol (GB)
- Memorial Sloan Kettering Cancer Center (US)
- Oulu University Hospital (FI)
- MRC Centre for Environment and Health (GB)
- University of Pisa (IT)
- University of Glasgow (GB)
- The University of Texas Health Science Center at Houston (US)
- Uppsala University (SE)
- QIMR Berghofer Medical Research Institute (AU)
- University of Iceland (IS)
- Institute of Genetics and Cancer (GB)
- University of Helsinki (FI)
- Haukeland University Hospital (NO)
- Tampere University (FI)
- Lions Eye Institute (AU)
- University of Aberdeen (GB)
- Norwegian University of Science and Technology (NO)
- Amsterdam UMC Location University of Amsterdam (NL)
- Massachusetts General Hospital (US)
- Umeå University (SE)
- Frederiksberg Hospital (DK)
- University of Southern California (US)
- Steno Diabetes Centers (DK)
- Finnish Institute for Health and Welfare (FI)
- Leiden University Medical Center (NL)
- Herlev Hospital (DK)
- University of Oxford (GB)
- Queen's University Belfast (GB)
- The Netherlands Cancer Institute (NL)
- Universitätsmedizin Greifswald (DE)
- Fred Hutch Cancer Center (US)
- Stellenbosch University (ZA)
- Centre Hospitalier Universitaire de Nantes (FR)
- University of Eastern Finland (FI)
- Atrium Health Wake Forest Baptist (US)
- Kaiser Permanente Washington Health Research Institute (US)
- Taichung Veterans General Hospital (TW)
- University of Alabama at Birmingham (US)
- Chinese Academy of Sciences (CN)
- Stanford Medicine (US)
- Boston University (US)
- University of Warwick (GB)
- Wellcome Sanger Institute (GB)
- German Center for Diabetes Research (DE)
- University of Tartu (EE)
- The University of Sydney (AU)
- Tampere University Hospital (FI)
- University of California, Los Angeles (US)
- Ninewells Hospital (GB)
- The University of Western Australia (AU)
- University of Maryland, Baltimore (US)
- University of Turku (FI)
- Center for Non-Communicable Diseases (PK)
- Kuopio University Hospital (FI)
- Merck & Co., Inc., Rahway, NJ, USA (United States) (US)
- Lund University (SE)
- Brigham and Women's Hospital (US)
- IRCCS Materno Infantile Burlo Garofolo (IT)
- Imperial College London (GB)
- Duke University (US)
- National University of Singapore (SG)
- Alzheimer Scotland (GB)
- Capital Region of Denmark (DK)
- Leipzig University (DE)
- Universität für Weiterbildung Krems (AT)
- Dalhousie University (CA)
- Sidra Medical and Research Center (QA)
- Newcastle University (GB)
- Indiana University (US)
- University of Mississippi Medical Center (US)
- Aarhus University (DK)
- Memorial University of Newfoundland (CA)
- The University of Texas Southwestern Medical Center (US)
- Ealing Hospital (GB)
- deCODE Genetics (Iceland) (IS)
- Pennsylvania State University (US)
- Statens Serum Institut (DK)
- Corresponding author
- Hirschhorn, Joel N.
- Deloukas, Panos
- Lettre, Guillaume
- ORCID
- Marouli, Eirini
- Graff, Mariaelisa
- Lo, Ken Sin
- Wood, Andrew R.
- Fine, Rebecca S.
- Lu, Yingchang
- Schurmann, Claudia
- Highland, Heather M.
- Rüeger, Sina
- Justice, Anne E.
- Lamparter, David
- Stirrups, Kathleen E.
- Turcot, Valérie
- Young, Kristin L.
- Winkler, Thomas W.
- Esko, Tõnu
- Karaderi, Tugce
- Locke, Adam E.
- Ng, Maggie C. Y.
- Rivas, Manuel A.
- Vedantam, Sailaja
- Mahajan, Anubha
- Guo, Xiuqing
- Aben, Katja K.
- Adair, Linda S.
- Alam, Dewan S.
- Allin, Kristine H.
- Allison, Matthew
- Amouyel, Philippe
- Appel, Emil V.
- Asselbergs, Folkert W.
- Auer, Paul L.
- Balkau, Beverley
- Banas, Bernhard
- Benn, Marianne
- Bergmann, Sven
- Bielak, Lawrence F.
- Blüher, Matthias
- Boeing, Heiner
- Boerwinkle, Eric
- Bonnycastle, Lori L.
- Bots, Michiel L.
- Bowden, Donald W.
- Brandslund, Ivan
- Breen, Gerome
- Brilliant, Murray H.
- Broer, Linda
- Burt, Amber A.
- Butterworth, Adam S.
- Carey, David J.
- Caulfield, Mark J.
- Chambers, John C.
- Chasman, Daniel I.
- Chen, Yii-Der Ida
- Chowdhury, Rajiv
- Chu, Audrey Y.
- Cocca, Massimiliano
- Collins, Francis S.
- Cook, James P.
- Corley, Janie
- Danesh, John
- Davies, Gail
- Deary, Ian J.
- Dedoussis, George
- Demerath, Ellen W.
- Dennis, Joe G.
- Drenos, Fotios
- Du, Mengmeng
- Dunning, Alison M.
- Easton, Douglas F.
- Ebeling, Tapani
- Edwards, Todd L.
- Ellinor, Patrick T.
- Elliott, Paul
- Farmaki, Aliki-Eleni
- Faul, Jessica D.
- Feitosa, Mary F.
- Feng, Shuang
- Ferrannini, Ele
- Ford, Ian
- Fornage, Myriam
- Franks, Paul W.
- Galesloot, Tessel E.
- Gan, Wei
- Gandin, Ilaria
- Gasparini, Paolo
- Giedraitis, Vilmantas
- Giri, Ayush
- Girotto, Giorgia
- Gordon, Scott D.
- Gorski, Mathias
- Grarup, Niels
- Grove, Megan L.
- Gudnason, Vilmundur
- Gustafsson, Stefan
- Hansen, Torben
- Harris, Kathleen Mullan
- Harris, Tamara B.
- Hattersley, Andrew T.
- Hayward, Caroline
- He, Liang
- Heid, Iris M.
- Helgeland, Øyvind
- Hernesniemi, Jussi
- Hewitt, Alex W.
- Hocking, Lynne J.
- Hollensted, Mette
- Hovingh, G. Kees
- Howson, Joanna M. M.
- Hoyng, Carel B.
- Huang, Paul L.
- Hveem, Kristian
- Ikram, M. Arfan
- Ingelsson, Erik
- Jansson, Jan-Håkan
- Jarvik, Gail P.
- Jensen, Gorm B.
- Jiang, Xuejuan
- Johansson, Stefan
- Jørgensen, Marit E.
- Jørgensen, Torben
- Jukema, J. Wouter
- Kahali, Bratati
- Kahn, René S.
- Kähönen, Mika
- Kamstrup, Pia R.
- Kanoni, Stavroula
- Kaprio, Jaakko
- Karpe, Fredrik
- Kee, Frank
- Keeman, Renske
- Kiemeney, Lambertus A.
- Kitajima, Hidetoshi
- Kluivers, Kirsten B.
- Komulainen, Pirjo
- Kontto, Jukka
- Kooner, Jaspal S.
- Kooperberg, Charles
- Kovacs, Peter
- Kriebel, Jennifer
- Kuivaniemi, Helena
- Küry, Sébastien
- Laakso, Markku
- Lakka, Timo A.
- Lange, Ethan M.
- Lange, Leslie A.
- Langefeld, Carl D.
- Langenberg, Claudia
- Larson, Eric B.
- Lee, I-Te
- Lehtimäki, Terho
- Lewis, Cora E.
- Lin, Honghuang
- Lin, Li-An
- Lind, Lars
- Lindström, Jaana
- Linneberg, Allan
- Lophatananon, Artitaya
- Luan, Jian'an
- Lubitz, Steven A.
- Lyytikäinen, Leo-Pekka
- Mackey, David A.
- Madden, Pamela A. F.
- Manning, Alisa K.
- Männistö, Satu
- Marenne, Gaëlle
- Marten, Jonathan
- Martin, Nicholas G.
- Mazul, Angela L.
- Meidtner, Karina
- Metspalu, Andres
- Mohlke, Karen L.
- Morgan, Anna
- Morris, Andrew D.
- Morris, Andrew P.
- Munroe, Patricia B.
- Nalls, Mike A.
- Nauck, Matthias
- Nelson, Christopher P.
- Neville, Matt
- Nielsen, Sune F.
- Nikus, Kjell
- Njølstad, Pål R.
- Nordestgaard, Børge G.
- Loohuis, Loes M. Olde
- Ophoff, Roel A.
- Owen, Katharine R.
- Packard, Chris J.
- Padmanabhan, Sandosh
- Pasterkamp, Gerard
- Patel, Aniruddh P.
- Pedersen, Oluf
- Peissig, Peggy L.
- Peloso, Gina M.
- Pennell, Craig E.
- Perola, Markus
- Perry, James A.
- Perry, John R. B.
- Raitakari, Olli T.
- Reilly, Dermot F.
- Reiner, Alex P.
- Renström, Frida
- Ridker, Paul M.
- Rioux, John D.
- Robino, Antonietta
- Rolandsson, Olov
- Rudan, Igor
- Ruth, Katherine S.
- Saleheen, Danish
- Salomaa, Veikko
- Samani, Nilesh J.
- Sapkota, Yadav
- Sattar, Naveed
- Schmidt, Marjanka K.
- Schreiner, Pamela J.
- Schulze, Matthias B.
- Segura-Lepe, Marcelo P.
- Shah, Svati
- Sim, Xueling
- Sivapalaratnam, Suthesh
- Small, Kerrin S.
- Smith, Albert Vernon
- Smith, Jennifer A.
- Southam, Lorraine
- Speliotes, Elizabeth K.
- Starr, John M.
- Stringham, Heather M.
- Surendran, Praveen
- Tansey, Katherine E.
- Tardif, Jean-Claude
- Taylor, Kent D.
- Teumer, Alexander
- Thompson, Deborah J.
- Thuesen, Betina H.
- Tönjes, Anke
- Tromp, Gerard
- Trompet, Stella
- Tuomilehto, Jaakko
- Tyrer, Jonathan P.
- Uher, Rudolf
- Uitterlinden, André G.
- Ulivi, Sheila
- Varga, Tibor V.
- Varma, Rohit
- Edwards, Digna R. Velez
- Vermeulen, Sita H.
- Vestergaard, Henrik
- Vogt, Thomas F.
- Vozzi, Diego
- Walker, Mark
- Wang, Feijie
- Wang, Carol A.
- Wang, Shuai
- Wang, Yiqin
- Wareham, Nicholas J.
- Warren, Helen R.
- Wessel, Jennifer
- Willems, Sara M.
- Wilson, James G.
- Witte, Daniel R.
- Woods, Michael O.
- Wu, Ying
- Yaghootkar, Hanieh
- Yao, Jie
- Yao, Pang
- Yerges-Armstrong, Laura M.
- Young, Robin
- Zeggini, Eleftheria
- Zhan, Xiaowei
- Zhang, Weihua
- Zhao, Jing Hua
- Zhou, Wei
- Rotter, Jerome I
- Boehnke, Michael
- Kathiresan, Sekar
- McCarthy, Mark I.
- Willer, Cristen J.
- Borecki, Ingrid B.
- Liu, Dajiang J.
- North, Kari E.
- Pers, Tune H.
- Lindgren, Cecilia M.
- Oxvig, Claus
- Kutalik, Zoltán
- Rivadeneira, Fernando
- Loos, Ruth J. F.
- Frayling, Timothy M.
- Hirschhorn, Joel N.
- Deloukas, Panos
- Lettre, Guillaume
- Venue
- Nature
- Published
- 2017-02-01
- Volume
- 542
- Issue
- 7640
- Pages
- 186-190
- ISSN
- 0028-0836 (ISSN-L)
- 1476-4687
- PMC
- PMC5302847
- OpenAlex
- W2584469054
- Cited by
- 610
- References
- 51
- Citations by year
- 2026: 22 · 2025: 29 · 2024: 34 · 2023: 45 · 2022: 54 · 2021: 57 · 2020: 120 · 2019: 105 · 2018: 85 · 2017: 56 · 2016: 1
- FWCI
- 66.44
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Nature (publishedVersion)
- University of Southern Denmark Research Portal (University of Southern Denmark) (publishedVersion, other-oa)
- PubMed (publishedVersion)
- Research at the University of Copenhagen (University of Copenhagen) (publishedVersion, other-oa)
- Research Explorer (The University of Manchester) (publishedVersion, other-oa)
- Amsterdam UMC (VU Amsterdam) - Institutional Repository (publishedVersion)
- EUR Research Repository (Erasmus University Rotterdam) (publishedVersion)
- Discovery Research Portal (University of Dundee) (acceptedVersion, other-oa)
- Bristol Research (University of Bristol) (acceptedVersion, other-oa)
- PubMed Central (acceptedVersion)
- ENLIGHTEN (Jurnal Bimbingan dan Konseling Islam) (acceptedVersion)
- Open Research Exeter (University of Exeter) (acceptedVersion)
- SERVAL (Université de Lausanne) (acceptedVersion, other-oa)
- Digital Access to Scholarship at Harvard (DASH) (Harvard University) (submittedVersion, cc-by)
- IRIS (submittedVersion)
- Leicester Research Archive (University of Leicester) (submittedVersion, other-oa)
- Edinburgh Research Explorer (University of Edinburgh) (submittedVersion, other-oa)
- VBN Forskningsportal (Aalborg Universitet) (submittedVersion, other-oa)
- eCite Digital Repository (University of Tasmania) (submittedVersion)
- UTAS Research Repository (submittedVersion)
- UWA Profiles and Research Repository (UWA) (submittedVersion, other-oa)
- Data Archiving and Networked Services (DANS) (submittedVersion)
- EUR Research Repository (Erasmus University Rotterdam) (submittedVersion)
- RePub (Erasmus University Rotterdam) (submittedVersion, other-oa)
- Leiden Repository (Leiden University) (submittedVersion)
- ArTS Archivio della ricerca di Trieste (University of Trieste https://www.units.it/) (submittedVersion)
- UEF eRepo (University of Eastern Finland) (submittedVersion)
- eScholarship (California Digital Library) (submittedVersion)
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- Newcastle University ePrints (Newcastle Univesity)
- Funders
- Doris Duke Charitable Foundation (2014105)
- University of Southern California
- Harvard University
- Helsingin Yliopisto
- University of Washington
- European Hematology Association (TRTH136)
- Norges Teknisk-Naturvitenskapelige Universitet
- Wellcome Trust (068545/Z/02), 202802/Z/16/Z, 098395/Z/12/Z)
- United Kingdom Clinical Research Collaboration
- University of Texas Health Science Center at Houston
- Steno Diabetes Center Copenhagen (SDCC 3.A Complications)
- Sidra Medicine
- National Institute for Health and Care Research (NF-SI-0512-10165, ACF-2016-19-005, NF-SI-0611-10136, NF-SI-0512-10113, NF-SI-0611-10099, NF-SI-0611-10219, NF-SI-0616-10080)
- British Heart Foundation (SP/13/2/30111, RG/08/014/24067, RG/14/5/30893)
- University of Exeter
- Imperial College London
- University College London
- University of Oxford
- University of Glasgow
- University of Aberdeen
- Menzies Research Institute Tasmania
- University of Tasmania
- Universiteit Leiden
- Aalborg Universitet
- Gentofte Hospital
- Erasmus Medisch Centrum
- Lunds Universitet
- Lundbeckfonden (R190 2014-3904, R16-2007-1691)
- Tampereen Yliopisto
- Université de Toulouse
- Umeå Universitet (901 87)
- Universitetet i Bergen
- Leids Universitair Medisch Centrum
- Rigshospitalet
- Region Hovedstaden
- Università degli Studi dell'Insubria
- Háskóli Íslands
- Syddansk Universitet
- Uppsala Universitet
- Università di Pisa
- Science for Life Laboratory
- Novo Nordisk Fonden (NNF14OC0010497, NNF16OC0021496)
- Haukeland Universitetssjukehus
- Tays
- Hjartavernd
- Menzies Institute for Medical Research
- Terveyden ja hyvinvoinnin laitos
- National Institutes of Health (1s10od018522-01, UL1TR000124, KL2TR001109, n01hc95159-40-0-1, UL1TR001881)
- School of Medicine, Stanford University
- University of California, Los Angeles
- University of North Carolina at Chapel Hill
- Social Science Research Institute, Duke University
- Medical Research Council (MR/K006584/1, MR/M501633/2, MR/L01341X/1, MR/L003120/1, MR/K002414/1, MR/L01632X/1, MR/K026992/1, MC_PC_13040, MC_UU_12015/2, MR/M501633/1, MC_PC_15018, MC_UU_12015/1, MR/K007017/1)
- Biotechnology and Biological Sciences Research Council (BB/F019394/1)
- Helse Sør-Øst RHF
- Helmholtz Zentrum München
- NIHR Oxford Biomedical Research Centre
- Netherlands Heart Institute
- National Heart, Lung, and Blood Institute (R01HL127564, HHSN268201300046C, N01-HC-095159, R01HL119443, R35HL135824, HHSN268201100046C, K99HL130580, K23HL114724, R01HL117078, T32HL007055)
- National Institute of Mental Health (R01MH090553)
- National Human Genome Research Institute (U01HG008657, U01HG007417)
- National Eye Institute (R01EY022310)
- National Cancer Institute (UM1CA182913, P30CA008748)
- National Institute of General Medical Sciences (T32GM096911)
- National Institute of Diabetes and Digestive and Kidney Diseases (R01DK072193, R01DK089256, U01DK062370, DP3DK108220, R01DK107904, R01DK106621, R01DK075787, P30DK020572, R01DK093757, P30DK063491)
- National Center for Advancing Translational Sciences
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (R01HD057194, P2CHD050924)
- Carolina Population Center, University of North Carolina at Chapel Hill
- Institute of Genetics
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Physical Performance
- Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Growth Hormone and Insulin-like Growth Factors
- Keywords
- adult height, rare coding variants, low-frequency variants, polygenic traits, STC2, PAPP-A, IGFBP-4, insulin-like growth factor, Ihh, AR, CRISPLD2, ADAMTS3, NOX4, proteoglycan synthesis, glycosaminoglycan synthesis
- MeSH terms
- ADAMTS Proteins, NADPH Oxidase 4, Adult, Alleles, Body Height, Female, Gene Frequency, Glycoproteins, Glycosaminoglycans, Humans, Male, Phenotype, Pregnancy-Associated Plasma Protein-A, Procollagen N-Endopeptidase, Proteoglycans, Receptors, Androgen, Somatomedins, Genetic Variation, Cell Adhesion Molecules, Genome, Human, NADPH Oxidases, Multifactorial Inheritance, Intercellular Signaling Peptides and Proteins, Interferon Regulatory Factors, Interleukin-11 Receptor alpha Subunit, Hedgehog Proteins, Proteolysis
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 ›
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