Cited by 4,013Genetic Associations and EpidemiologyGenetic Mapping and Diversity in Plants and AnimalsGenetic and phenotypic traits in livestock

The DOI matches its Crossref record; 22 of the 22 references it cites were found in a registry or an index.

Potential etiologic and functional implications of genome-wide association loci for human diseases and traits

Open access

Hindorff, Lucia A., Sethupathy, Praveen, Junkins, Heather A., Ramos, Erin M., Mehta, Jayashri P., Collins, Francis S., Manolio, Teri A.·2009·Proceedings of the National Academy of Sciences

DOI 10.1073/pnas.0903103106PMC PMC2687147

Open this paper in CoChat — free account

Abstract

We have developed an online catalog of SNP-trait associations from published genome-wide association studies for use in investigating genomic characteristics of trait/disease-associated SNPs (TASs). Reported TASs were common [median risk allele frequency 36%, interquartile range (IQR) 21%−53%] and were associated with modest effect sizes [median odds ratio (OR) 1.33, IQR 1.20–1.61]. Among 20 genomic annotation sets, reported TASs were significantly overrepresented only in nonsynonymous sites [OR = 3.9 (2.2−7.0), p = 3.5 × 10 −7 ] and 5kb-promoter regions [OR = 2.3 (1.5−3.6), p = 3 × 10 −4 ] compared to SNPs randomly selected from genotyping arrays. Although 88% of TASs were intronic (45%) or intergenic (43%), TASs were not overrepresented in introns and were significantly depleted in intergenic regions [OR = 0.44 (0.34−0.58), p = 2.0 × 10 −9 ]. Only slightly more TASs than expected by chance were predicted to be in regions under positive selection [OR = 1.3 (0.8−2.1), p = 0.2]. This new online resource, together with bioinformatic predictions of the underlying functionality at trait/disease-associated loci, is well-suited to guide future investigations of the role of common variants in complex disease etiology.

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

Crossref · 10.1073/pnas.0903103106

Cites

22 of 22 references verified0 citation errors · 0 not checkable

Statistics

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?

Self-check

Percentages, sums and reported differences re-computed from the paper’s own numbers.

The self-check needs the paper’s full text.

The Human Genome Browser at UCSC
Kent, W. J., Sugnet, C. W., Furey, T. S., Roskin, K. M., Pringle, T. H., Zahler, A. M., & Haussler, A. D. (2002) · Genome Research · doi:10.1101/gr.229102 · Cited by 10,400
Diabetes mellitus: a "thrifty" genotype rendered detrimental by "progress"?
Neel, J. V. (1962) · Europe PMC (PubMed Central) · Cited by 3,172
A Map of Recent Positive Selection in the Human Genome
Voight, B. F., Kudaravalli, S., Wen, X., & Pritchard, J. K. (2006) · PLoS Biology · doi:10.1371/journal.pbio.0040072 · Cited by 2,925
Human non-synonymous SNPs: server and survey
Ramensky, V. E. (2002) · Nucleic Acids Research · doi:10.1093/nar/gkf493 · Cited by 2,299
Diabetes mellitus: a "thrifty" genotype rendered detrimental by "progress"?
(1962) · PubMed Central · Cited by 2,182
Genome-wide detection and characterization of positive selection in human populations
The International HapMap Consortium, Sabeti, P. C., Varilly, P., Fry, B., Lohmueller, J., Hostetter, E., Cotsapas, C., Xie, X., Byrne, E. H., McCarroll, S. A., et al. (2007) · Nature · doi:10.1038/nature06250 · Cited by 2,131
Heritability in the genomics era — concepts and misconceptions
Visscher, P. M., Hill, W. G., & Wray, N. R. (2008) · Nature Reviews Genetics · doi:10.1038/nrg2322 · Cited by 1,921
Hepatocyte Nuclear Factor 4α (Nuclear Receptor 2A1) Is Essential for Maintenance of Hepatic Gene Expression and Lipid Homeostasis
Hayhurst, G. P., Lee, Y.-H., Lambert, G., Ward, J. M., & Gonzalez, F. J. (2001) · Molecular and Cellular Biology · doi:10.1128/mcb.21.4.1393-1403.2001 · Cited by 1,107
The genetics and immunopathogenesis of inflammatory bowel disease
Cho, J. H. (2008) · Nature Reviews Immunology · doi:10.1038/nri2340 · Cited by 940
Multiple loci identified in a genome-wide association study of prostate cancer
Thomas, G. D., Jacobs, K. B., Yeager, M., Kraft, P. L., Wacholder, S., Orr, N., Yu, K. F., Chatterjee, N., Welch, R., Hutchinson, A. A., et al. (2008) · Nature Genetics · doi:10.1038/ng.91 · Cited by 903

Show all 22 references

Sorted by citations

Items 401–500 of 1,028

Genetics and genomics of Parkinson’s disease
Lin, M. K., & Farrer, M. J. (2014) · Genome Medicine · doi:10.1186/gm566 · Cited by 183
DataSHIELD: resolving a conflict in contemporary bioscience--performing a pooled analysis of individual-level data without sharing the data
Wolfson, M. C., Wallace, S. E., Masca, N. G. D., Rowe, G., Sheehan, N. A., Ferretti, V., Laflamme, P., Tobin, M. D., Macleod, J., Little, J., et al. (2010) · International Journal of Epidemiology · doi:10.1093/ije/dyq111 · Cited by 190
Genetic risk prediction in complex disease
Jostins, L., & Barrett, J. C. (2011) · Human Molecular Genetics · doi:10.1093/hmg/ddr378 · Cited by 185
i-GSEA4GWAS: a web server for identification of pathways/gene sets associated with traits by applying an improved gene set enrichment analysis to genome-wide association study
Zhang, K., Cui, S., Chang, S., Zhang, L., & Wang, J. (2010) · Nucleic Acids Research · doi:10.1093/nar/gkq324 · Cited by 183
Genetic Architecture of Vitamin B12 and Folate Levels Uncovered Applying Deeply Sequenced Large Datasets
Grarup, N., Sulem, P., Sandholt, C. H., Þorleifsson, G., Ahluwalia, T. S., Steinthórsdóttir, V., Bjarnason, H., Gudbjartsson, D. F., Magnússon, Ó. Þ., Sparsø, T., et al. (2013) · PLoS Genetics · doi:10.1371/journal.pgen.1003530 · Cited by 177
Human longevity: Genetics or Lifestyle? It takes two to tango
Passarino, G., Rango, F. D., & Montesanto, A. (2016) · Immunity & Ageing · doi:10.1186/s12979-016-0066-z · Cited by 192
Synthetic Associations Created by Rare Variants Do Not Explain Most GWAS Results
Wray, N. R., Purcell, S. M., & Visscher, P. M. (2011) · PLoS Biology · doi:10.1371/journal.pbio.1000579 · Cited by 176
Quality, quantity and harmony: the DataSHaPER approach to integrating data across bioclinical studies
Fortier, I., Burton, P. R., Robson, P. J., Ferretti, V., Little, J., L’Heureux, F., Deschênes, M., Knoppers, B. M., Doiron, D., Keers, J. C., et al. (2010) · International Journal of Epidemiology · doi:10.1093/ije/dyq139 · Cited by 179
The use of phenome-wide association studies (PheWAS) for exploration of novel genotype-phenotype relationships and pleiotropy discovery
Pendergrass, S. A., Brown-Gentry, K. D., DUDEK, S. M., Torstenson, E. S., Ambite, J. L., Avery, C. L., Buyske, S. G., Cai, C., Fesinmeyer, M. D., Haiman, C., et al. (2011) · Genetic Epidemiology · doi:10.1002/gepi.20589 · Cited by 175
Self-citation
SNPsnap: a Web-based tool for identification and annotation of matched SNPs
Pers, T. H., Timshel, P. N., & Hirschhorn, J. N. (2014) · Bioinformatics · doi:10.1093/bioinformatics/btu655 · Cited by 171
Genome-Wide Associations between Genetic and Epigenetic Variation Influence mRNA Expression and Insulin Secretion in Human Pancreatic Islets
Olsson, A. H., Volkov, P., Bacos, K., Dayeh, T., Hall, E., Nilsson, E., Ladenvall, C., Rönn, T., & Ling, C. (2014) · PLoS Genetics · doi:10.1371/journal.pgen.1004735 · Cited by 186
Genetic architecture of colorectal cancer
Peters, U., Bien, S. A., & Zubair, N. (2015) · Gut · doi:10.1136/gutjnl-2013-306705 · Cited by 179
Novel Loci for Metabolic Networks and Multi-Tissue Expression Studies Reveal Genes for Atherosclerosis
Inouye, M., Ripatti, S., Kettunen, J., Lyytikäinen, L., Oksala, N., Laurila, P., Kangas, A. J., Soininen, P., Savolainen, M. J., Viikari, J. S. A., et al. (2012) · PLoS Genetics · doi:10.1371/journal.pgen.1002907 · Cited by 168
Identification of LZTFL1 as a candidate effector gene at a COVID-19 risk locus
Downes, D. J., Cross, A. R., Peng, H., Roberts, N. A., Schweßinger, R., Cutler, A. J., Munis, A. M., Brown, J. M., Mielczarek, O., de Andrea, C. E., et al. (2021) · Nature Genetics · doi:10.1038/s41588-021-00955-3 · Cited by 174
Effects of sequence variation on differential allelic transcription factor occupancy and gene expressionPreprint
Reddy, T. E., Gertz, J., Pauli, F., Kucera, K. S., Varley, K. E., Newberry, K. M., Marinov, G. K., Mortazavi, A., Williams, B. A., Song, L., et al. (2012) · Genome Research · doi:10.1101/gr.131201.111 · Cited by 175
How far from the SNP may the causative genes be?
Brodie, A., Azaria, J. R., & Ofran, Y. (2016) · Nucleic Acids Research · doi:10.1093/nar/gkw500 · Cited by 172
Ulcerative colitis: molecular insights and intervention therapy
Liang, Y., Li, Y., Lee, C., Yu, Z., Chen, C., & Liang, C. (2024) · Molecular Biomedicine · doi:10.1186/s43556-024-00207-w · Cited by 192
From genome to function by studying eQTLs
Westra, H.-J., & Franke, L. (2014) · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · doi:10.1016/j.bbadis.2014.04.024 · Cited by 174
Genome-wide analyses implicate 33 loci in heritable dog osteosarcoma, including regulatory variants near CDKN2A/B
Karlsson, E. K., Sigurðsson, S., Ivansson, E. L., Thomas, R. J., Elvers, I., Wright, J. B., Howald, C., Tonomura, N., Perloski, M., Swofford, R., et al. (2013) · Genome biology · doi:10.1186/gb-2013-14-12-r132 · Cited by 178
A molecular basis for classic blond hair color in Europeans
Guenther, C. A., Tasic, B., Luo, L., Bedell, M. A., & Kingsley, D. M. (2014) · Nature Genetics · doi:10.1038/ng.2991 · Cited by 173
Autoimmune Disease Classification by Inverse Association with SNP Alleles
Sirota, M., Schaub, M. A., Batzoglou, S., Robinson, W. H., & Butte, A. J. (2009) · PLoS Genetics · doi:10.1371/journal.pgen.1000792 · Cited by 170
Genome-wide Association Study Identifies New Susceptibility Loci for Posttraumatic Stress Disorder
Xie, P., Kranzler, H. R., Yang, C., Zhao, H., Farrer, L. A., & Gelernter, J. E. (2013) · Biological Psychiatry · doi:10.1016/j.biopsych.2013.04.013 · Cited by 172
Toward a roadmap in global biobanking for health
Harris, J. R., Burton, P. R., Knoppers, B. M., Lindpaintner, K., Bledsoe, M. J., Brookes, A. J., Budin‐Ljøsne, I., Chisholm, R. L., Cox, D. R., Deschênes, M., et al. (2012) · European Journal of Human Genetics · doi:10.1038/ejhg.2012.96 · Cited by 171
Copy number variation in the bovine genome
Fadista, J., Thomsen, B., Holm, L., & Bendixen, C. (2010) · BMC Genomics · doi:10.1186/1471-2164-11-284 · Cited by 171
The Next PAGE in Understanding Complex Traits: Design for the Analysis of Population Architecture Using Genetics and Epidemiology (PAGE) Study
Matise, T. C., Ambite, J. L., Buyske, S. G., Carlson, C. S., Cole, S. A., Crawford, D. C., Haiman, C. A., HEISS, G. M., Kooperberg, C. L., Marchand, L. L., et al. (2011) · American Journal of Epidemiology · doi:10.1093/aje/kwr160 · Cited by 168
Self-citation
Genome-Wide Association Studies and Beyond
Witte, J. S. (2010) · Annual Review of Public Health · doi:10.1146/annurev.publhealth.012809.103723 · Cited by 185
Enhancer Logic and Mechanics in Development and Disease
Rickels, R. A., & Shilatifard, A. (2018) · Trends in Cell Biology · doi:10.1016/j.tcb.2018.04.003 · Cited by 171
Functional gene group analysis identifies synaptic gene groups as risk factor for schizophrenia
the International Schizophrenia Consortium, Lips, E. S., Cornelisse, L. N., Toonen, R. F., Min, J. L., Hultman, C. M., Holmans, P. A., O'Donovan, M. C., Purcell, S. M., Smit, A. B., et al. (2012) · Molecular Psychiatry · doi:10.1038/mp.2011.117 · Cited by 167
Polymorphic Cis- and Trans-Regulation of Human Gene Expression
Cheung, V. G., Nayak, R. R., Wang, I. X., Elwyn, S., Cousins, S. M., Morley, M. P., & Spielman, R. S. (2010) · PLoS Biology · doi:10.1371/journal.pbio.1000480 · Cited by 168
Common CD36 SNPs reduce protein expression and may contribute to a protective atherogenic profile
Love-Gregory, L. D., Sherva, R., Schappe, T., Qi, J.-S., McCrea, J., Klein, S., Connelly, M. A., & Abumrad, N. A. (2010) · Human Molecular Genetics · doi:10.1093/hmg/ddq449 · Cited by 169
Crowdsourcing biomedical research: leveraging communities as innovation engines
Sáez-Rodríguez, J., Costello, J. C., Friend, S. H., Kellen, M., Mangravite, L. M., Meyer, P., Norman, T., & Stolovitzky, G. A. (2016) · Nature Reviews Genetics · doi:10.1038/nrg.2016.69 · Cited by 173
The evolution of dbSNP: 25 years of impact in genomic research
Phan, L. D., Zhang, H., Wang, Q., Villamarín-Salomón, R., Hefferon, T., Ramanathan, A., & Kattman, B. L. (2024) · Nucleic Acids Research · doi:10.1093/nar/gkae977 · Cited by 183
Functional Variant in the Autophagy-Related 5 Gene Promotor is Associated with Childhood Asthma
Martin, L. J., Gupta, J., Jyothula, S., Kovacic, M. B., Myers, J. M. B., Patterson, T. L., Ericksen, M. B., He, H., Gibson, A. M., Baye, T. M., et al. (2012) · PLoS ONE · doi:10.1371/journal.pone.0033454 · Cited by 169
GWAS Central: a comprehensive resource for the comparison and interrogation of genome-wide association studies
Beck, T., Hastings, R. K., Hesketh, S., Free, R. C., & Brookes, A. J. (2013) · European Journal of Human Genetics · doi:10.1038/ejhg.2013.274 · Cited by 166
Multi-species annotation of transcriptome and chromatin structure in domesticated animals
Foissac, S., Djebali, S., Munyard, K., Vialaneix, N., Rau, A., Muret, K., Esquerré, D., Zytnicki, M., Derrien, T., Bardou, P., et al. (2019) · BMC Biology · doi:10.1186/s12915-019-0726-5 · Cited by 162
Adaptation of Saccharomyces cerevisiae to saline stress through laboratory evolution
DHAR, R., SÄGESSER, R., WEIKERT, C., YUAN, J., & WAGNER, A. (2011) · Journal of Evolutionary Biology · doi:10.1111/j.1420-9101.2011.02249.x · Cited by 165
Genetic Screening for the Risk of Type 2 Diabetes
Lyssenko, V., & Laakso, M. (2013) · Diabetes Care · doi:10.2337/dcs13-2009 · Cited by 181
Chapter 13: Mining Electronic Health Records in the Genomics Era
Denny, J. C. (2012) · PLoS Computational Biology · doi:10.1371/journal.pcbi.1002823 · Cited by 170
Genome-wide association studies in pharmacogenomics
Motsinger‐Reif, A. A., Jorgenson, E., Relling, M. V., Kroetz, D. L., Weinshilboum, R. M., Cox, N. J., & Roden, D. M. (2010) · Pharmacogenetics and Genomics · doi:10.1097/fpc.0b013e32833d7b45 · Cited by 165
Development and Evaluation of a Genetic Risk Score for Obesity
Belsky, D. W., Moffitt, T. E., Sugden, K., Williams, B., Houts, R., McCarthy, J., & Caspi, A. (2013) · Biodemography and Social Biology · doi:10.1080/19485565.2013.774628 · Cited by 165
Association of well-characterized lung cancer lncRNA polymorphisms with lung cancer susceptibility and platinum-based chemotherapy response
Gong, W., Yin, J., Li, X., Fang, C., Xiao, D., Zhang, W., Zhou, H., Liu, Z., & Liu, Z. (2016) · Tumor Biology · doi:10.1007/s13277-015-4497-5 · Cited by 165
Current status of genome-wide association studies in cancer
Chung, C. C., & Chanock, S. J. (2011) · Human Genetics · doi:10.1007/s00439-011-1030-9 · Cited by 166
Steroid-induced ocular hypertension/glaucoma: Focus on pharmacogenomics and implications for precision medicine
Fini, M. E., Schwartz, S. G., Gao, X., Jeong, S., Patel, N. N., Itakura, T., Price, M. O., Price, F. W., Varma, R., & Stamer, W. D. (2016) · Progress in Retinal and Eye Research · doi:10.1016/j.preteyeres.2016.09.003 · Cited by 167
Network-Based Multiple Sclerosis Pathway Analysis with GWAS Data from 15,000 Cases and 30,000 Controls
Baranzini, S. E., Khankhanian, P., Patsopoulos, N. A., Li, M., Stankovich, J. M., Cotsapas, C. J., Søndergaard, H. B., Ban, M., Barizzone, N., Bergamaschi, L., et al. (2013) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2013.04.019 · Cited by 162
Methods for Investigating Gene-Environment Interactions in Candidate Pathway and Genome-Wide Association Studies
Thomas, D. C. (2010) · Annual Review of Public Health · doi:10.1146/annurev.publhealth.012809.103619 · Cited by 164
Integrating Autoimmune Risk Loci with Gene-Expression Data Identifies Specific Pathogenic Immune Cell Subsets
Hu, X., Kim, H., Stahl, E. A., Plenge, R. M., Daly, M. J., & Raychaudhuri, S. (2011) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2011.09.002 · Cited by 159
Whole exome capture in solution with 3 Gbp of data
Bainbridge, M., Wang, M., Burgess, D. L., Kovar, C., Rodesch, M., D'Ascenzo, M. D., Kitzman, J., Wu, Y.-Q., Newsham, I., Richmond, T., et al. (2010) · Genome Biology · doi:10.1186/gb-2010-11-6-r62 · Cited by 30
A meta-analysis of the genomic and transcriptomic composition of complex life
Liu, G., Mattick, J. S., & Taft, R. J. (2013) · Cell Cycle · doi:10.4161/cc.25134 · Cited by 171
Neurofibromatosis type 1: from genotype to phenotype
Pasmant, É., Vidaud, M., Vidaud, D., & Wolkenstein, P. (2012) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2012-100978 · Cited by 169
The Genetics of Nonalcoholic Fatty Liver Disease: Spotlight on PNPLA3 and TM6SF2
Day, C. P., & Anstee, Q. M. (2015) · Seminars in Liver Disease · doi:10.1055/s-0035-1562947 · Cited by 169
Meta-Analysis of Genome-wide Association Studies with Overlapping Subjects
Lin, D.-Y., & Sullivan, P. F. (2009) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2009.11.001 · Cited by 156
Integrating Diverse Datasets Improves Developmental Enhancer Prediction
Erwin, G. D., Oksenberg, N., Truty, R., Kostka, D., Murphy, K. K., Ahituv, N., Pollard, K. S., & Capra, J. A. (2014) · PLoS Computational Biology · doi:10.1371/journal.pcbi.1003677 · Cited by 156
The Genetic Architecture of Climatic Adaptation of Tropical Cattle
Porto-Neto, L. R., Reverter, A., Prayaga, K. C., Chan, E. K. F., Johnston, D. J., Hawken, R., Fordyce, G., Garcia, J. F., Sonstegard, T. S., Bolormaa, S., et al. (2014) · PLoS ONE · doi:10.1371/journal.pone.0113284 · Cited by 163
The genetics of autoimmune diseases: a networked perspective
Baranzini, S. E. (2009) · Current Opinion in Immunology · doi:10.1016/j.coi.2009.09.014 · Cited by 164
Improved Ancestry Estimation for both Genotyping and Sequencing Data using Projection Procrustes Analysis and Genotype Imputation
Wang, C., Zhan, X., Liang, L., Abecasis, G. R., & Lin, X. (2015) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2015.04.018 · Cited by 150
dbEMT: an epithelial-mesenchymal transition associated gene resource
Zhao, M., Kong, L., Liu, Y., & Qu, H. (2015) · Scientific Reports · doi:10.1038/srep11459 · Cited by 156
Genetic Determinants of Lipid Traits in Diverse Populations from the Population Architecture using Genomics and Epidemiology (PAGE) Study
Dumitrescu, L. C., Carty, C. L., Taylor, K. C., Schumacher, F. R., Hindorff, L. A., Ambite, J. L., Anderson, G. L., Best, L. G., Brown-Gentry, K. D., Bůžková, P., et al. (2011) · PLoS Genetics · doi:10.1371/journal.pgen.1002138 · Cited by 158
Self-citation
How to estimate kinship
Goudet, J., Kay, T., & Weir, B. S. (2018) · Molecular Ecology · doi:10.1111/mec.14833 · Cited by 158
Heritability in the genome-wide association era
Zaitlen, N., & Kraft, P. L. (2012) · Human Genetics · doi:10.1007/s00439-012-1199-6 · Cited by 163
Large-scale identification of clinical and genetic predictors of motor progression in patients with newly diagnosed Parkinson's disease: a longitudinal cohort study and validation
Latourelle, J. C., Beste, M. T., Hadzi, T. C., Miller, R. E., Oppenheim, J. N., Valko, M., Wuest, D., Church, B. W., Khalil, I. G., Hayete, B., et al. (2017) · The Lancet Neurology · doi:10.1016/s1474-4422(17)30328-9 · Cited by 158
Obligatory and facilitative allelic variation in the DNA methylome within common disease-associated loci
Bell, C. G., Gao, F., Yuan, W., Roos, L., Acton, R., Xia, Y., Bell, J. T., Ward, K. J., Mangino, M., Hysi, P. G., et al. (2017) · Nature Communications · doi:10.1038/s41467-017-01586-1 · Cited by 157
Enrichment of cis-regulatory gene expression SNPs and methylation quantitative trait loci among bipolar disorder susceptibility variants
Gamazon, E. R., Badner, J. A., Cheng, L., Zhang, C., Zhang, D., Cox, N. J., Gershon, E. S., Kelsoe, J. R., Greenwood, T. A., Nievergelt, C. M., et al. (2012) · Molecular Psychiatry · doi:10.1038/mp.2011.174 · Cited by 158
Genome-wide meta-analysis for severe diabetic retinopathy
Grassi, M. A., Тихомиров, А. А., Ramalingam, S., Below, J. E., Cox, N. J., & Nicolae, D. L. (2011) · Human Molecular Genetics · doi:10.1093/hmg/ddr121 · Cited by 158
Multilocus Genetic Risk Scores for Coronary Heart Disease Prediction
Ganna, A., Magnusson, P. K. E., Pedersen, N. L., de Faire, U., Reilly, M., Ärnlöv, J., Sundström, J., Hamsten, A., & Ingelsson, E. (2013) · Arteriosclerosis, Thrombosis, and Vascular Biology · doi:10.1161/atvbaha.113.301218 · Cited by 156
Type 2 Diabetes Genetics: Beyond GWAS
Sanghera, D. K., & Blackett, P. R. (2012) · Journal of Diabetes & Metabolism · doi:10.4172/2155-6156.1000198 · Cited by 167
Genetics of primary sclerosing cholangitis and pathophysiological implications
Jiang, X., & Karlsen, T. H. (2017) · Nature Reviews Gastroenterology & Hepatology · doi:10.1038/nrgastro.2016.154 · Cited by 155
Patient Similarity Networks for Precision Medicine
Pai, S., & Bader, G. D. (2018) · Journal of Molecular Biology · doi:10.1016/j.jmb.2018.05.037 · Cited by 159
LRRK2: Cause, Risk, and Mechanism
Paisán‐Ruiz, C., Lewis, P. A., & Singleton, A. (2013) · Journal of Parkinson s Disease · doi:10.3233/jpd-130192 · Cited by 154
Breakthroughs in the genetics of orofacial clefting
Mangold, E., Ludwig, K. U., & Nöthen, M. M. (2011) · Trends in Molecular Medicine · doi:10.1016/j.molmed.2011.07.007 · Cited by 152
Genome-wide association study of sleep in Drosophila melanogaster
Harbison, S. T., McCoy, L. J., & Mackay, T. F. C. (2013) · BMC Genomics · doi:10.1186/1471-2164-14-281 · Cited by 159
Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32
Steffens, M., Leu, C., Ruppert, A., Zara, F., Striano, P., Robbiano, A., Capovilla, G., Tinuper, P., Gambardella, A., Bianchi, A., et al. (2012) · Human Molecular Genetics · doi:10.1093/hmg/dds373 · Cited by 150
A cross-platform analysis of 14,177 expression quantitative trait loci derived from lymphoblastoid cell linesPreprint
Liang, L., Morar, N., Dixon, A. L., Lathrop, M. G., Abecasis, G. R., Moffatt, M. F., & Cookson, W. (2013) · Genome Research · doi:10.1101/gr.142521.112 · Cited by 151
Integrating the roles of long and small non-coding RNA in brain function and disease
Barry, G. (2014) · Molecular Psychiatry · doi:10.1038/mp.2013.196 · Cited by 154
Extensive characterization of NF-κB binding uncovers non-canonical motifs and advances the interpretation of genetic functional traits
Wong, D., Teixeira, A. S., Oikonomopoulos, S., Humburg, P., Lone, I. N., Saliba, D. G., Siggers, T., Bulyk, M. L., Angelov, D., Dimitrov, S. I., et al. (2011) · Genome biology · doi:10.1186/gb-2011-12-7-r70 · Cited by 158
Genome-Wide Association Studies
Dehghan, A. (2018) · Methods in molecular biology · doi:10.1007/978-1-4939-7868-7_4 · Cited by 169
Polygenic burden in focal and generalized epilepsies
Leu, C., Stevelink, R., Smith, A. C. W., Goleva, S. B., Kanai, M., Ferguson, L., Campbell, C., Kamatani, Y., Okada, Y., Sisodiya, S. M., et al. (2019) · Brain · doi:10.1093/brain/awz292 · Cited by 152
Soluble IL7Rα potentiates IL-7 bioactivity and promotes autoimmunity
Lundström, W., Highfill, S. L., Walsh, S. T. R., Beq, S., Morse, E., Kockum, I. S., Alfredsson, L. S., Olsson, T. P., Hillert, J. A., & Mackall, C. L. (2013) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1222303110 · Cited by 159
GRASP v2.0: an update on the Genome-Wide Repository of Associations between SNPs and phenotypes
Eicher, J. D., Landowski, C., Stackhouse, B., Sloan, A. A., Chen, W., Jensen, N., Lien, J.-P., Leslie, R., & Johnson, A. D. (2014) · Nucleic Acids Research · doi:10.1093/nar/gku1202 · Cited by 148
Downregulation of lncRNA TUG1 Affects Apoptosis and Insulin Secretion in Mouse Pancreatic β Cells
Yin, D., Zhang, E., You, L., Wang, N., Wang, L., Jin, F.-Y., Zhu, Y.-N., Cao, L., Yuan, Q., De, W., et al. (2015) · Cellular Physiology and Biochemistry · doi:10.1159/000373999 · Cited by 147
Spontaneous preterm birth: advances toward the discovery of genetic predisposition
Strauss, J. F., Romero, R. J., Gomez‐Lopez, N., Haymond‐Thornburg, H., Modi, B. P., Teves, M. E., Pearson, L. N., York, T. P., & Schenkein, H. A. (2017) · American Journal of Obstetrics and Gynecology · doi:10.1016/j.ajog.2017.12.009 · Cited by 153
Ridge Regression in Prediction Problems: Automatic Choice of the Ridge Parameter
Cule, E., & Iorio, M. D. (2013) · Genetic Epidemiology · doi:10.1002/gepi.21750 · Cited by 149
Pleiotropic genes for metabolic syndrome and inflammation
Kraja, A. T., Chasman, D. I., North, K. E., Reiner, A. P., Yanek, L. R., Kilpeläinen, T. O., Smith, J. A., Dehghan, A., Dupuis, J., Johnson, A. D., et al. (2014) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2014.04.007 · Cited by 149
Evolutionary Selection and Constraint on Human Knee Chondrocyte Regulation Impacts Osteoarthritis Risk
Richard, D. J., Liu, Z., Cao, J., Kiapour, A. M., Willen, J., Yarlagadda, S., Jagoda, E., Kolachalama, V. B., Sieker, J. T., Chang, G. H., et al. (2020) · Cell · doi:10.1016/j.cell.2020.02.057 · Cited by 144
Genome-wide association studies of asthma indicate opposite immunopathogenesis direction from autoimmune diseases
Li, X., Ampleford, E. J., Howard, T. D., Moore, W. C., Torgerson, D. G., Li, H., Busse, W. W., Castro, M., ERZURUM, S. C., Israel, E., et al. (2012) · Journal of Allergy and Clinical Immunology · doi:10.1016/j.jaci.2012.04.041 · Cited by 145
Editing the Epigenome: Reshaping the Genomic Landscape
Holtzman, L., & Gersbach, C. A. (2018) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev-genom-083117-021632 · Cited by 147
Dynamic epigenetic enhancer signatures reveal key transcription factors associated with monocytic differentiation states
Pham, T.-H., Benner, C., Lichtinger, M., Schwarzfischer, L., Hu, Y., Andreesen, R., Chen, W., & Rehli, M. (2012) · Blood · doi:10.1182/blood-2012-01-402453 · Cited by 143
Ensembl variation resources
Chen, Y., Cunningham, F. M., Ríos, D., McLaren, W. M., Smith, J. A., Yates, B., Spudich, G. M., Brent, S., Kulesha, E., Marín-García, P., et al. (2010) · BMC Genomics · doi:10.1186/1471-2164-11-293 · Cited by 146
Is bisphenol A an environmental obesogen?
Legeay, S., & Faure, S. (2017) · Fundamental and Clinical Pharmacology · doi:10.1111/fcp.12300 · Cited by 154
Effects of palmitate on genome-wide mRNA expression and DNA methylation patterns in human pancreatic islets
Hall, E., Volkov, P., Dayeh, T., Bacos, K., Rönn, T., Nitert, M. D., & Ling, C. (2014) · BMC Medicine · doi:10.1186/1741-7015-12-103 · Cited by 145
Discovery of active enhancers through bidirectional expression of short transcripts
Melgar, M., Collins, F. S., & Sethupathy, P. (2011) · Genome biology · doi:10.1186/gb-2011-12-11-r113 · Cited by 142
Self-citation
Genetic–epigenetic interactions in cis: a major focus in the post-GWAS era
Do, C., Shearer, A., Suzuki, M., Terry, M. B., Gelernter, J. E., Greally, J. M., & Tycko, B. (2017) · Genome biology · doi:10.1186/s13059-017-1250-y · Cited by 145
Research advances in the genomics and applications for molecular breeding of aquaculture animals
You, X., Shan, X., & Shi, Q. (2020) · Aquaculture · doi:10.1016/j.aquaculture.2020.735357 · Cited by 145
Genetic Signatures of Exceptional Longevity in Humans
Sebastiani, P., Solovieff, N., Puca, A., Hartley, S. W., Melista, E., Andersen, S., Dworkis, D. A., Wilk, J. B., Myers, R. H., Steinberg, M. H., et al. (2010) · Science · doi:10.1126/science.1190532 · Cited by 141
Retracted
Cell Specific eQTL Analysis without Sorting Cells
Westra, H.-J., Arends, D., Esko, T., Peters, M. J., Schurmann, C., Schramm, K., Kettunen, J., Yaghootkar, H., Fairfax, B. P., Andiappan, A. K., et al. (2015) · PLoS Genetics · doi:10.1371/journal.pgen.1005223 · Cited by 138
Establishment of a Radiogenomics Consortium
West, C., & Rosenstein, B. S. (2010) · International Journal of Radiation Oncology*Biology*Physics · doi:10.1016/j.ijrobp.2009.12.017 · Cited by 141
Phased Whole-Genome Genetic Risk in a Family Quartet Using a Major Allele Reference Sequence
Dewey, F. E., Chen, R., Cordero, S. P., Ormond, K. E., Caleshu, C. A., Karczewski, K. J., Whirl‐Carrillo, M., Wheeler, M. T., Dudley, J. T., Byrnes, J., et al. (2011) · PLoS Genetics · doi:10.1371/journal.pgen.1002280 · Cited by 141
Computational and statistical approaches to analyzing variants identified by exome sequencing
Stitziel, N. O., Kieżun, A., & Sunyaev, S. R. (2011) · Genome biology · doi:10.1186/gb-2011-12-9-227 · Cited by 147
Ancestry estimation and control of population stratification for sequence-based association studies
Study, T. F., Wang, C., Zhan, X., Bragg‐Gresham, J. L., Kang, H. M., Stambolian, D. E., Chew, E. Y., Branham, K. E. H., Heckenlively, J. R., Fulton, R. S., et al. (2014) · Nature Genetics · doi:10.1038/ng.2924 · Cited by 141
A genome-wide association study identifies a breast cancer risk variant in ERBB4 at 2q34: results from the Seoul Breast Cancer Study
Kim, H.-C., Lee, J., Sung, H., Choi, J., Park, S. K., Lee, K.-M., Kim, Y. J., Go, M. J., Li, L., Cho, Y. S., et al. (2012) · Breast Cancer Research · doi:10.1186/bcr3158 · Cited by 138
Complementary Alu sequences mediate enhancer–promoter selectivity
Liang, L., Cao, C., Ji, L., Cai, Z., Wang, D., Ye, R., Chen, J., Yu, X., Zhou, J., Bai, Z., et al. (2023) · Nature · doi:10.1038/s41586-023-06323-x · Cited by 147

Authors: Hindorff, L. A., Sethupathy, P., Junkins, H. A., Ramos, E. M., Mehta, J. P., Collins, F. S., & Manolio, T. A.
Affiliations: National Institutes of Health (US)
National Human Genome Research Institute (US)
ORCID: Hindorff, Lucia A.
Sethupathy, Praveen
Ramos, Erin M.
Collins, Francis S.
Manolio, Teri A.
Venue: Proceedings of the National Academy of Sciences
Publisher: National Academy of Sciences
Published: 2009-06-09
Volume: 106
Issue: 23
Pages: 9362-9367
ISSN: 0027-8424 (ISSN-L)
1091-6490
DOI: 10.1073/pnas.0903103106
PMC: PMC2687147
OpenAlex: W2117446594
Cited by: 4,013
References: 22
Citations by year: 2026: 42 · 2025: 91 · 2024: 89 · 2023: 102 · 2022: 147 · 2021: 184 · 2020: 176 · 2019: 166 · 2018: 206 · 2017: 223 · 2016: 268 · 2015: 344 · 2014: 438 · 2013: 480 · 2012: 433
FWCI: 205.13
Type: journal article
Language: en
Open access: green
www.ncbi.nlm.nih.gov
Locations: Proceedings of the National Academy of Sciences (publishedVersion)
Europe PMC (PubMed Central) (publishedVersion)
PubMed Central (publishedVersion)
PubMed (publishedVersion)
Funders: National Institutes of Health
National Human Genome Research Institute
U.S. National Library of Medicine
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: genome-wide association study, single nucleotide polymorphisms, disease-associated SNPs, SNP-trait association, genome annotation, non-synonymous mutations, promoter, intronic SNPs, intergenic regions, positive selection, common genetic variants, OPAC
MeSH terms: Disease, Humans, Polymorphism, Genetic, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide, 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

Potential etiologic and functional implications of genome-wide association loci for human diseases and traits

Abstract

Overview

Integrity signals

Verification

Claims the paper makes

Claims other papers make about this one

Self-check

Citations

Cites

Cited by

Related

Metadata

Record

About these checks