The DOI matches its Crossref record; 32 of the 32 references it cites were found in a registry or an index.
Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes
Open accessAbstract
The Wellcome Trust Case Control Consortium (WTCCC) primary genome-wide association (GWA) scan on seven diseases, including the multifactorial autoimmune disease type 1 diabetes (T1D), shows associations at P < 5 × 10−7 between T1D and six chromosome regions: 12q24, 12q13, 16p13, 18p11, 12p13 and 4q27. Here, we attempted to validate these and six other top findings in 4,000 individuals with T1D, 5,000 controls and 2,997 family trios independent of the WTCCC study. We confirmed unequivocally the associations of 12q24, 12q13, 16p13 and 18p11 (Pfollow-up ≤ 1.35 × 10−9; Poverall ≤ 1.15 × 10−14), leaving eight regions with small effects or false-positive associations. We also obtained evidence for chromosome 18q22 (Poverall = 1.38 × 10−8) from a GWA study of nonsynonymous SNPs. Several regions, including 18q22 and 18p11, showed association with autoimmune thyroid disease. This study increases the number of T1D loci with compelling evidence from six to at least ten.
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 source backs part of the claim, not all of it — or backs it for a different population, condition or comparison.
In the citing paper
“Genome-wide association studies have confirmed a number of non-HLA genetic factors that increase the risk of a first appearing b-cell autoantibody or type 1 diabetes, both in first degree relatives of individuals with type 1 diabetes and in the general population (386,387,404,405).”
From Guidelines and Recommendations for Laboratory Analysis in the Diagnosis and Management of Diabetes Mellitus (2023) · cites this paper as [405]
Experimental — accuracy not yet measuredIn the citing paper
“Genomewide association studies have confirmed that the following non-HLA genetic factors increase the risk for type 1 diabetes, both in first-degree relatives of type 1 diabetic patients and in the general population: INS, VNTR, CTLA4, PTPN22, and others (263,265,282,283).”
From Guidelines and recommendations for laboratory analysis in the diagnosis and management of diabetes mellitus (2011) · cites this paper as [283]
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
Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls
The Wellcome Trust Case Control Consortium, Management Committee, Burton, P. R., Clayton, D. G., Cardon, L. R., Craddock, N., Deloukas, P., Duncanson, A., Kwiatkowski, D. P., McCarthy, M. I., et al. (2007) · Nature · doi:10.1038/nature05911 · Cited by 9,442
Self-citationA haplotype map of the human genome
The International HapMap Consortium (2005) · Nature · doi:10.1038/nature04226 · Cited by 5,858
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
Differential roles of MDA5 and RIG-I helicases in the recognition of RNA viruses
Kato, H., Takeuchi, O., Sato, S., Yoneyama, M., Yamamoto, M., Matsui, K., Uematsu, S., Jung, A., Kawai, T., Ishii, K. J., et al. (2006) · Nature · doi:10.1038/nature04734 · Cited by 3,888
The Wellcome Trust Case Control Consortium, U.K.
Mossman, K. (2008) · Scientific American · doi:10.1038/scientificamerican0108-42a · Cited by 2,714
Association of the T-cell regulatory gene CTLA4 with susceptibility to autoimmune disease
Ueda, H., Howson, J. M. M., Esposito, L., Heward, J., Snook, Chamberlain, G., Rainbow, D. B., Hunter, K. M. D., Smith, A. N., Di Genova, G., et al. (2003) · Nature · doi:10.1038/nature01621 · Cited by 2,175
Self-citationThe C‐type lectin‐like domain superfamily
Zelensky, A. N., & Gready, J. E. (2005) · FEBS Journal · doi:10.1111/j.1742-4658.2005.05031.x · Cited by 1,411
Genome-wide association studies: theoretical and practical concerns
Wang, W. Y. S., Barratt, B. J., Clayton, D. G., & Todd, J. A. (2005) · Nature Reviews Genetics · doi:10.1038/nrg1522 · Cited by 1,183
Self-citationGenetic Signatures of Strong Recent Positive Selection at the Lactase Gene
Bersaglieri, T., Sabeti, P. C., Patterson, N. J., Vanderploeg, T. N., Schaffner, S. F., Drake, J. A., Rhodes, M. E., Reich, D., & Hirschhorn, J. N. (2004) · The American Journal of Human Genetics · doi:10.1086/421051 · Cited by 1,169
Understanding quantitative genetic variation
Barton, N., & Keightley, P. D. (2002) · Nature Reviews Genetics · doi:10.1038/nrg700 · Cited by 833
Flagged first, then by citations
Cited by
Sorted by citations
Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls
The Wellcome Trust Case Control Consortium, Management Committee, Burton, P. R., Clayton, D. G., Cardon, L. R., Craddock, N., Deloukas, P., Duncanson, A., Kwiatkowski, D. P., McCarthy, M. I., et al. (2007) · Nature · doi:10.1038/nature05911 · Cited by 9,442
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
Atkinson, M. A., Eisenbarth, G. S., & Michels, A. W. (2014) · The Lancet · doi:10.1016/s0140-6736(13)60591-7 · Cited by 2,931
The Type 1 Diabetes Genetics Consortium, Barrett, J. C., Clayton, D. G., Concannon, P., Akolkar, B., Cooper, J. D., Erlich, H. A., Julier, C., Morahan, G., Nerup, J., et al. (2009) · Nature Genetics · doi:10.1038/ng.381 · Cited by 1,746
Self-citationRisk Alleles for Multiple Sclerosis Identified by a Genomewide Study
(2007) · New England Journal of Medicine · doi:10.1056/nejmoa073493 · Cited by 1,746
Detecting gene–gene interactions that underlie human diseases
Cordell, H. J. (2009) · Nature Reviews Genetics · doi:10.1038/nrg2579 · Cited by 1,350
Sacks, D. B., Arnold, M., Bakris, G. L., Bruns, D. E., Horvath, A. R., Kirkman, M. S., Lernmark, A., Metzger, B. E., & Nathan, D. M. (2011) · Clinical Chemistry · doi:10.1373/clinchem.2010.161596 · Cited by 1,360
Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci
BIRAC Consortium, Stahl, E. A., YEAR Consortium, Raychaudhuri, S., Remmers, E. F., Xie, G., Eyre, S., Thomson, B. P., Li, Y., Kurreeman, F. A. S., et al. (2010) · Nature Genetics · doi:10.1038/ng.582 · Cited by 1,253
Genome-wide association study identifies eight loci associated with blood pressure
Wellcome Trust Case Control Consortium, Newton-Cheh, C., Johnson, T., Gateva, V., Tobin, M. D., Bochud, M., Coin, L., Najjar, S. S., Zhao, J. H., Heath, S. C., et al. (2009) · Nature Genetics · doi:10.1038/ng.361 · Cited by 1,215
Self-citationIn vivo CRISPR screening identifies Ptpn2 as a cancer immunotherapy target
Manguso, R. T., Pope, H. W., Zimmer, M. D., Brown, F. D., Yates, K. B., Miller, B. C., Collins, N. B., Bi, K., LaFleur, M. W., Juneja, V. R., et al. (2017) · Nature · doi:10.1038/nature23270 · Cited by 1,147
Parkes, M., Barrett, J. C., Prescott, N. J., Tremelling, M., Anderson, C. A., Fisher, S. A., Roberts, R. G., Nimmo, E. R., Cummings, F. J. R., Soars, D., et al. (2007) · Nature Genetics · doi:10.1038/ng2061 · Cited by 1,175
Common and rare variants in multifactorial susceptibility to common diseases
Bodmer, W., & Bonilla, C. (2008) · Nature Genetics · doi:10.1038/ng.f.136 · Cited by 1,131
Uncovering the roles of rare variants in common disease through whole-genome sequencing
Cirulli, E. T., & Goldstein, D. B. (2010) · Nature Reviews Genetics · doi:10.1038/nrg2779 · Cited by 1,136
Regulatory T Cells and Human Disease
Sakaguchi, S., Mikami, N., Wing, J. B., Tanaka, A., Ichiyama, K., & Ohkura, N. (2020) · Annual Review of Immunology · doi:10.1146/annurev-immunol-042718-041717 · Cited by 1,163
Pleiotropy in complex traits: challenges and strategies
Solovieff, N., Cotsapas, C., Lee, P. H., Purcell, S. M., & Smoller, J. W. (2013) · Nature Reviews Genetics · doi:10.1038/nrg3461 · Cited by 1,085
How to Interpret a Genome-wide Association Study
Pearson, T. A. (2008) · JAMA · doi:10.1001/jama.299.11.1335 · Cited by 1,005
Rare Variants of IFIH1 , a Gene Implicated in Antiviral Responses, Protect Against Type 1 Diabetes
Nejentsev, S., Walker, N., Riches, D., Egholm, M., & Todd, J. A. (2009) · Science · doi:10.1126/science.1167728 · Cited by 958
Self-citationMapping the Genetic Architecture of Gene Expression in Human Liver
Schadt, E. E., Molony, C. M., Chudin, E., Hao, K., Yang, X., Lum, P. Y., Kasarskis, A., Zhang, B., Wang, S. S.-M., Suver, C., et al. (2008) · PLoS Biology · doi:10.1371/journal.pbio.0060107 · Cited by 918
A HapMap harvest of insights into the genetics of common disease
Manolio, T. A., Brooks, L. D., & Collins, F. S. (2008) · Journal of Clinical Investigation · doi:10.1172/jci34772 · Cited by 889
Mapping complex disease traits with global gene expression
Cookson, W., Liang, L., Abecasis, G., Moffatt, M., & Lathrop, M. (2009) · Nature Reviews Genetics · doi:10.1038/nrg2537 · Cited by 849
Type 1 Diabetes: Etiology, Immunology, and Therapeutic Strategies
Van Belle, T. L., Coppieters, K. T., & Von Herrath, M. G. (2011) · Physiological Reviews · doi:10.1152/physrev.00003.2010 · Cited by 1,022
Little, J., Higgins, J. P. T., Ioannidis, J. P. A., Moher, D., Gagnon, F., von Elm, E., Khoury, M. J., Cohen, B., Davey-Smith, G., Grimshaw, J., et al. (2009) · PLoS Medicine · doi:10.1371/journal.pmed.1000022 · Cited by 811
New loci associated with kidney function and chronic kidney disease
Köttgen, A., Pattaro, C., Böger, C. A., Fuchsberger, C., Olden, M., Glazer, N. L., Parsa, A., Gao, X., Yang, Q., Smith, A. V., et al. (2010) · Nature Genetics · doi:10.1038/ng.568 · Cited by 807
Genetics meets metabolomics: a genome-wide association study of metabolite profiles in human serum
Gieger, C., Geistlinger, L., Altmaier, E., Hrabé de Angelis, M., Kronenberg, F., Meitinger, T., Mewes, H.-W., Wichmann, H.-E., Weinberger, K. M., Adamski, J., et al. (2008) · PLoS Genetics · doi:10.1371/journal.pgen.1000282 · Cited by 737
Pathophysiology of diabetes: An overview
Aga, S. S., Banday, M. Z., & Nissar, S. (2020) · Avicenna Journal of Medicine · doi:10.4103/ajm.ajm_53_20 · Cited by 949
Sequence variants affecting eosinophil numbers associate with asthma and myocardial infarction
Gudbjartsson, D. F., Björnsdóttir, U. S., Halapi, E. C., Helgadóttir, A., Sulem, P., Jonsdottir, G. M., Þorleifsson, G., Helgadottir, H. T., Steinthórsdóttir, V., Stefánsson, H., et al. (2009) · Nature Genetics · doi:10.1038/ng.323 · Cited by 764
Signals of recent positive selection in a worldwide sample of human populations
Pickrell, J. K., Coop, G., Novembre, J., Kudaravalli, S., Li, J. Z., Absher, D., Srinivasan, B. S., Barsh, G. S., Myers, R. M., Feldman, M. W., et al. (2009) · Genome Research · doi:10.1101/gr.087577.108 · Cited by 717
Shared and Distinct Genetic Variants in Type 1 Diabetes and Celiac Disease
Smyth, D. J., Plagnol, V., Walker, N. M., Cooper, J. D., Downes, K., Yang, J. H. M., Howson, J. M. M., Stevens, H. E., McManus, R., Wijmenga, C., et al. (2008) · New England Journal of Medicine · doi:10.1056/nejmoa0807917 · Cited by 750
Self-citationSacks, D. B., Arnold, M., Bakris, G. L., Bruns, D. E., Horvath, A. R., Kirkman, M. S., Lernmark, A., Metzger, B. E., & Nathan, D. M. (2011) · Diabetes Care · doi:10.2337/dc11-9998 · Cited by 718
Using Environmental Correlations to Identify Loci Underlying Local Adaptation
Coop, G., Witonsky, D., Rienzo, A. D., & Pritchard, J. K. (2010) · Genetics · doi:10.1534/genetics.110.114819 · Cited by 720
Day, F., Karaderi, T., Jones, M. R., Meun, C., He, C., Drong, A., Kraft, P., Lin, N., Huang, H., Broer, L., et al. (2018) · PLOS Genetics · doi:10.1371/journal.pgen.1007813 · Cited by 619
Celiac disease: Prevalence, diagnosis, pathogenesis and treatment
Gujral, N. (2012) · World Journal of Gastroenterology · doi:10.3748/wjg.v18.i42.6036 · Cited by 691
Önengüt-Gümüşcü, S., Chen, W., Burren, O. S., Cooper, N. J., Quinlan, A. R., Mychaleckyj, J. C., Farber, E., Bonnie, J. K., Szpak, M., Schofield, E. C., et al. (2015) · Nature Genetics · doi:10.1038/ng.3245 · Cited by 694
Self-citationNewly identified genetic risk variants for celiac disease related to the immune response
Hunt, K. A., Zhernakova, A., Turner, G., Heap, G., Franke, L., Bruinenberg, M., Romanos, J., Dinesen, L. C., Ryan, A. W., Panesar, D., et al. (2008) · Nature Genetics · doi:10.1038/ng.102 · Cited by 685
Genome-wide association study identifies eight new risk loci for polycystic ovary syndrome
Shi, Y., Zhao, H., Shi, Y., Cao, Y., Yang, D., Li, Z., Zhang, B., Liang, X., Li, T., Chen, J., et al. (2012) · Nature Genetics · doi:10.1038/ng.2384 · Cited by 678
Self-citationA Genome-Wide Association Study of Psoriasis and Psoriatic Arthritis Identifies New Disease Loci
Liu, Y., Helms, C., Liao, W. J., Zaba, L. C., Duan, S., Gardner, J. M., Wise, C. A., Miner, A. G., Malloy, M. J., Pullinger, C. R., et al. (2008) · PLoS Genetics · doi:10.1371/journal.pgen.1000041 · Cited by 674
New IBD genetics: common pathways with other diseases
Lees, C. W., Barrett, J. C., Parkes, M., & Satsangi, J. (2011) · Gut · doi:10.1136/gut.2009.199679 · Cited by 635
Revisiting IL-2: Biology and therapeutic prospects
Abbas, A. K., Trotta, E., Simeonov, D. R., Marson, A., & Bluestone, J. A. (2018) · Science Immunology · doi:10.1126/sciimmunol.aat1482 · Cited by 649
Consanguinity, human evolution, and complex diseases
Bittles, A. H., & Black, M. L. (2009) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0906079106 · Cited by 646
Primary Biliary Cirrhosis Associated with HLA, IL12A, and IL12RB2 Variants
Hirschfield, G. M., Liu, X., Xu, C., Lu, Y., Xie, G., Lu, Y., Gu, X., Walker, E. J., Jing, K., Juran, B. D., et al. (2009) · New England Journal of Medicine · doi:10.1056/nejmoa0810440 · Cited by 594
Localization of type 1 diabetes susceptibility to the MHC class I genes HLA-B and HLA-A
Nejentsev, S., Howson, J. M. M., Walker, N. M., Szeszko, J. S., Field, S. F., Stevens, H. E., Reynolds, P., Hardy, M. P., King, E., Masters, J., et al. (2007) · Nature · doi:10.1038/nature06406 · Cited by 573
Self-citationTodd, J. A. (2010) · Immunity · doi:10.1016/j.immuni.2010.04.001 · Cited by 560
Self-citationGut microbiota, obesity and diabetes
Patterson, E., Ryan, P. M., Cryan, J. F., Dinan, T. G., Ross, R. P., Fitzgerald, G. F., & Stanton, C. (2016) · Postgraduate Medical Journal · doi:10.1136/postgradmedj-2015-133285 · Cited by 552
A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene
Hakonarson, H., Grant, S. F. A., Bradfield, J. P., Marchand, L., Kim, C. E., Glessner, J. T., Grabs, R., Casalunovo, T., Taback, S. P., Frackelton, E. C., et al. (2007) · Nature · doi:10.1038/nature06010 · Cited by 542
Endocrine Toxicity of Cancer Immunotherapy Targeting Immune Checkpoints
Chang, L., Barroso‐Sousa, R., Tolaney, S. M., Hodi, F. S., Kaiser, U. B., & Min, L. (2018) · Endocrine Reviews · doi:10.1210/er.2018-00006 · Cited by 550
Meta-analysis of genome-wide association study data identifies additional type 1 diabetes risk loci
Cooper, J. D., Smyth, D. J., Smiles, A. M., Plagnol, V., Walker, N. M., Allen, J. E., Downes, K., Barrett, J. C., Healy, B. C., Mychaleckyj, J. C., et al. (2008) · Nature Genetics · doi:10.1038/ng.249 · Cited by 545
Self-citationFairfax, B. P., Makino, S., Radhakrishnan, J., Plant, K., Leslie, S., Dilthey, A., Ellis, P., Langford, C., Vannberg, F. O., & Knight, J. C. (2012) · Nature Genetics · doi:10.1038/ng.2205 · Cited by 486
Soranzo, N., Spector, T. D., Mangino, M., Kuehnel, B., Rendon, A., Teumer, A., Willenborg, C., Wright, B. J., Chen, L., Li, M., et al. (2009) · Nature Genetics · doi:10.1038/ng.467 · Cited by 527
Dehghan, A., Dupuis, J., Barbalić, M., Bis, J. C., Eiríksdóttir, G., Lu, C., Pellikka, N., Wallaschofski, H., Kettunen, J., Henneman, P., et al. (2011) · Circulation · doi:10.1161/circulationaha.110.948570 · Cited by 507
Concannon, P., Rich, S. S., & Nepom, G. T. (2009) · New England Journal of Medicine · doi:10.1056/nejmra0808284 · Cited by 510
Balancing natural killer cell activation through paired receptors
Martinet, L., & Smyth, M. J. (2015) · Nature reviews. Immunology · doi:10.1038/nri3799 · Cited by 493
Boelaert, K., Newby, P. R., Simmonds, M. J., Holder, R. L., Carr-Smith, J. D., Heward, J. M., Manji, N., Allahabadia, A., Armitage, M., Chatterjee, K. V., et al. (2010) · The American Journal of Medicine · doi:10.1016/j.amjmed.2009.06.030 · Cited by 480
Self-citationEizirik, D. L., Sammeth, M., Bouckenooghe, T., Bottu, G., Sisino, G., Igoillo-Esteve, M., Ortis, F., Santin, I., Colli, M. L., Barthson, J., et al. (2012) · PLoS Genetics · doi:10.1371/journal.pgen.1002552 · Cited by 465
Detecting shared pathogenesis from the shared genetics of immune-related diseases
Zhernakova, A., van Diemen, C. C., & Wijmenga, C. (2009) · Nature Reviews Genetics · doi:10.1038/nrg2489 · Cited by 551
A Single Autoimmune T Cell Receptor Recognizes More Than a Million Different Peptides
Wooldridge, L., Makinde, J., van den Berg, H. A., Skowera, A., Miles, J. J., Tan, M. P., Dolton, G. M., Clement, M., Llewellyn‐Lacey, S., Price, D. A., et al. (2011) · Journal of Biological Chemistry · doi:10.1074/jbc.m111.289488 · Cited by 459
Reevaluation of SNP heritability in complex human traits
Speed, D., Cai, N., Johnson, M. R., Nejentsev, S., & Balding, D. J. (2017) · Nature Genetics · doi:10.1038/ng.3865 · Cited by 452
Self-citationWallace, C., Newhouse, S., Braund, P. S., Zhang, F., Tobin, M. D., Falchi, M., Ahmadi, K. R., Dobson, R., Marçano, A. C. B., Hajat, C., et al. (2008) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2007.11.001 · Cited by 441
Self-citationBeckmann, J. S., Estivill, X., & Antonarakis, S. E. (2007) · Nature Reviews Genetics · doi:10.1038/nrg2149 · Cited by 430
Lowe, C. E., Cooper, J. D., Brusko, T. M., Walker, N. M., Smyth, D. J., Bailey, R., Bourget, K., Plagnol, V., Field, S., Atkinson, M. A., et al. (2007) · Nature Genetics · doi:10.1038/ng2102 · Cited by 437
Self-citationPathogenesis of Systemic Sclerosis
Pattanaik, D., Brown, M. A., Postlethwaite, B. C., & Postlethwaite, A. E. (2015) · Frontiers in Immunology · doi:10.3389/fimmu.2015.00272 · Cited by 438
The role of geography in human adaptation
Coop, G., Pickrell, J. K., Novembre, J., Kudaravalli, S., Li, J., Absher, D., Myers, R. M., Cavalli-Sforza, L. L., Feldman, M. W., & Pritchard, J. K. (2009) · PLoS Genetics · doi:10.1371/journal.pgen.1000500 · Cited by 412
Bour‐Jordan, H., Esensten, J. H., Martinez‐Llordella, M., Penaranda, C., Stumpf, M., & Bluestone, J. A. (2011) · Immunological Reviews · doi:10.1111/j.1600-065x.2011.01011.x · Cited by 391
Systems medicine: the future of medical genomics and healthcare
Auffray, C., Zhu, C. H., & Hood, L. (2009) · Genome Medicine · doi:10.1186/gm2 · Cited by 397
Autophagy in the renewal, differentiation and homeostasis of immune cells
Clarke, A. J., & Simon, A. K. (2019) · Nature Reviews Immunology · doi:10.1038/s41577-018-0095-2 · Cited by 361
Skowera, A., Ellis, R. J., Varela‐Calviño, R., Arif, S., Huang, G. C., Van-Krinks, C., Zaremba, A., Rackham, C. L., Allen, J. S., Tree, T. I. M., et al. (2008) · Journal of Clinical Investigation · doi:10.1172/jci35449 · Cited by 361
Self-citationGilfillan, S., Chan, C. J., Cella, M., Haynes, N. M., Rapaport, A. S., Boles, K. S., Andrews, D. M., Smyth, M. J., & Colonna, M. (2008) · The Journal of Experimental Medicine · doi:10.1084/jem.20081752 · Cited by 370
Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium
Ganesh, S. K., Zakai, N. A., van Rooij, F. J. A., Soranzo, N., Smith, A. V., Nalls, M. A., Chen, M., Köttgen, A., Glazer, N. L., Dehghan, A., et al. (2009) · Nature Genetics · doi:10.1038/ng.466 · Cited by 357
Ohkura, N., & Sakaguchi, S. (2020) · Cell Research · doi:10.1038/s41422-020-0324-7 · Cited by 374
Franke, A., Balschun, T. C., Karlsen, T. H., Hedderich, J., May, S., Lu, T. T., Schuldt, D., Nikolaus, S., Rosenstiel, P. C., Krawczak, M., et al. (2008) · Nature Genetics · doi:10.1038/ng.148 · Cited by 354
Cho, M. H., McDonald, M., Zhou, X., Mattheisen, M., Castaldi, P. J., Hersh, C. P., DeMeo, D. L., Sylvia, J. S., Ziniti, J. P., Laird, N. M., et al. (2014) · The Lancet Respiratory Medicine · doi:10.1016/s2213-2600(14)70002-5 · Cited by 345
Little, J., Higgins, J. P. T., Ioannidis, J. P. A., Moher, D., Gagnon, F., von Elm, E. B., Khoury, M. J., Cohen, B. J., Smith, G. D., Grimshaw, J., et al. (2009) · Genetic Epidemiology · doi:10.1002/gepi.20410 · Cited by 360
A Genome-Wide Meta-Analysis of Six Type 1 Diabetes Cohorts Identifies Multiple Associated Loci
Bradfield, J. P., Qu, H., Wang, K., Zhang, H., Abou‐Sleiman, P. M., Kim, C. E., Mentch, F. D., Qiu, H., Glessner, J., Thomas, K., et al. (2011) · PLoS Genetics · doi:10.1371/journal.pgen.1002293 · Cited by 348
Recent Advances in the Genetics of Autoimmune Disease
Gregersen, P. K., & Olsson, L. M. (2008) · Annual Review of Immunology · doi:10.1146/annurev.immunol.021908.132653 · Cited by 343
Association of NCF2, IKZF1, IRF8, IFIH1, and TYK2 with Systemic Lupus Erythematosus
Graham, D. S. C., Morris, D. L., Bhangale, T., Criswell, L. A., Syvänen, A.-C., Rönnblom, L., Behrens, T. W., Graham, R., & Vyse, T. J. (2011) · PLoS Genetics · doi:10.1371/journal.pgen.1002341 · Cited by 332
Genome-wide association analysis identifies three psoriasis susceptibility loci
Stuart, P. E., Nair, R. P., Ellinghaus, E., Ding, J., Tejasvi, T., Gudjonsson, J. E., Li, Y., Weidinger, S., Eberlein, B., Gieger, C., et al. (2010) · Nature Genetics · doi:10.1038/ng.693 · Cited by 339
Sacks, D. B., Arnold, M., Bakris, G. L., Bruns, D. E., Horvath, A. R., Lernmark, Å., Metzger, B. E., Nathan, D. M., & Kirkman, M. S. (2023) · Diabetes Care · doi:10.2337/dci23-0036 · Cited by 351
“Genomewide association studies have confirmed that the following non-HLA genetic factors increase the risk for type 1 diabetes, both in first-degree relatives of type 1 diabetic patients and in the general population: INS, VNTR, CTLA4, PTPN22, and others (263,265,282,283).”
Little, J., Higgins, J. P. T., Ioannidis, J. P. A., Moher, D., Gagnon, F., von Elm, E. B., Khoury, M. J., Cohen, B. J., Smith, G. D., Grimshaw, J., et al. (2009) · European Journal of Clinical Investigation · doi:10.1111/j.1365-2362.2009.02125.x · Cited by 327
Manolio, T. A., Rodriguez, L. L., Brooks, L., Guttmacher, A. E., Harris, E. L., Collins, F. S., Abecasis, G. R., Ballinger, D. G., Frazer, K. A., Daly, M. J., et al. (2007) · Nature Genetics · doi:10.1038/ng2127 · Cited by 321
Autoimmune diseases: insights from genome-wide association studies
Lettre, G., & Rioux, J. D. (2008) · Human Molecular Genetics · doi:10.1093/hmg/ddn246 · Cited by 317
Robertson, C. C., Inshaw, J. R. J., Onengut-Gumuscu, S., Chen, W.-M., Santa Cruz, D. F., Yang, H., Cutler, A. J., Crouch, D. J. M., Farber, E., Bridges, S. L., et al. (2021) · Nature Genetics · doi:10.1038/s41588-021-00880-5 · Cited by 302
Self-citationSteck, A. K., & Rewers, M. (2011) · Clinical Chemistry · doi:10.1373/clinchem.2010.148221 · Cited by 337
Primary biliary cholangitis: pathogenesis and therapeutic opportunities
Gulamhusein, A. F., & Hirschfield, G. M. (2020) · Nature Reviews Gastroenterology & Hepatology · doi:10.1038/s41575-019-0226-7 · Cited by 308
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
Self-citationKim, 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
The Emerging Global Epidemic of Type 1 Diabetes
Tuomilehto, J. (2013) · Current Diabetes Reports · doi:10.1007/s11892-013-0433-5 · Cited by 292
Libman, I. M., Haynes, A., Lyons, S. K., Pradeep, P., Rwagasor, E., Tung, J. Y., Jefferies, C., Oram, R. A., Dabelea, D., & Craig, M. E. (2022) · Pediatric Diabetes · doi:10.1111/pedi.13454 · Cited by 339
A network view of disease and compound screening
Schadt, E. E., Friend, S. H., & Shaywitz, D. A. (2009) · Nature Reviews Drug Discovery · doi:10.1038/nrd2826 · Cited by 289
Long, S. A., Cerosaletti, K. M., Bollyky, P. L., Tatum, M., Shilling, H. G., Zhang, S., Zhang, Z., Pihoker, C., Sanda, S., Greenbaum, C. J., et al. (2009) · Diabetes · doi:10.2337/db09-0694 · Cited by 296
Genome-wide association analysis identifies three new breast cancer susceptibility loci
Netherlands Collaborative Group on Hereditary Breast and Ovarian Cancer (HEBON), Ghoussaini, M., (FBCS), F. B. C. S., The Gene Environment Interaction of Breast Cancer in Germany (GENICA) Network, kConFab Investigators, Australian Ovarian Cancer Study Group, Fletcher, O., Michailidou, K., Turnbull, C., Schmidt, M. K., et al. (2012) · Nature Genetics · doi:10.1038/ng.1049 · Cited by 285
Cooper, J. D., Smyth, D. J., Walker, N. M., Stevens, H., Burren, O. S., Wallace, C., Greissl, C., Ramos-Lopez, E., Hyppönen, E., Dunger, D. B., et al. (2011) · Diabetes · doi:10.2337/db10-1656 · Cited by 279
Self-citationTwin studies in autoimmune disease: Genetics, gender and environment
Bogdanos, D. P., Smyk, D. S., Rigopoulou, E. I., Mytilinaiou, M. G., Heneghan, M. A., Selmi, C. F., & Gershwin, M. E. (2011) · Journal of Autoimmunity · doi:10.1016/j.jaut.2011.11.003 · Cited by 294
Pathogenesis of type 1 diabetes mellitus: interplay between enterovirus and host
Hober, D., & Sauter, P. (2010) · Nature Reviews Endocrinology · doi:10.1038/nrendo.2010.27 · Cited by 281
Tissue-Specific Genetic Control of Splicing: Implications for the Study of Complex Traits
Heinzen, E. L., Ge, D., Cronin, K. D., Maia, J. M., Shianna, K. V., Gabriel, W. N., Welsh-Bohmer, K. A., Hulette, C. M., Denny, T. N., & Goldstein, D. B. (2008) · PLoS Biology · doi:10.1371/journal.pbio.1000001 · Cited by 272
Smith, T. J. (2010) · Pharmacological Reviews · doi:10.1124/pr.109.002469 · Cited by 274
Fung, E., Smyth, D. J., Howson, J. M. M., Cooper, J. D., Walker, N. M., Stevens, H. E., Wicker, L. S., & Todd, J. A. (2008) · Genes and Immunity · doi:10.1038/gene.2008.99 · Cited by 265
Self-citationAutoimmune mechanisms in type 1 diabetes
Knip, M., & Siljander, H. (2008) · Autoimmunity Reviews · doi:10.1016/j.autrev.2008.04.008 · Cited by 279
Emerging role of long noncoding RNAs in autoimmune diseases
Wu, G., Pan, H., Leng, R., Wang, D., Li, X.-P., Li, X., & Ye, D. (2015) · Autoimmunity Reviews · doi:10.1016/j.autrev.2015.05.004 · Cited by 264
Genotyping Technologies for Genetic Research
Ragoussis, J. (2009) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev-genom-082908-150116 · Cited by 268
Burton, P. R., Hansell, A., Fortier, I., Manolio, T. A., Khoury, M. J., Little, J., & Elliott, P. (2008) · International Journal of Epidemiology · doi:10.1093/ije/dyn147 · Cited by 266
Low-dose interleukin-2 fosters a dose-dependent regulatory T cell tuned milieu in T1D patients
Rosenzwajg, M., Churlaud, G., Mallone, R., Six, A., Dérian, N., Chaara, W., Lorenzon, R., Long, S. A., Buckner, J. H., Afonso, G., et al. (2015) · Journal of Autoimmunity · doi:10.1016/j.jaut.2015.01.001 · Cited by 263
Metadata
- Authors
- Finland, G. O. T. 1. D. I., Todd, J. A., the Wellcome Trust Case Control Consortium, Walker, N. M., Cooper, J. D., Smyth, D. J., Downes, K., Plagnol, V., Bailey, R., Nejentsev, S., Field, S. F., Payne, F., Lowe, C. E., Szeszko, J. S., Hafler, J. P., Zeitels, L., Yang, J. H. M., Vella, A., Nutland, S., Stevens, H. E., Schuilenburg, H., Coleman, G., Maisuria, M., Meadows, W., Smink, L. J., Healy, B., Burren, O. S., Lam, A. A. C., Ovington, N. R., Allen, J., Adlem, E., Leung, H.-T., Wallace, C., Howson, J. M. M., Guja, C., Ionescu-Tîrgovişte, C., Simmonds, M. J., Heward, J. M., Gough, S. C. L., Dunger, D. B., Wicker, L. S., & Clayton, D. G.
- Affiliations
- University of Cambridge (GB)
- Mayo Clinic (US)
- Queen Mary University of London (GB)
- University of Birmingham (GB)
- Corresponding author
- Todd, John A
- ORCID
- Todd, John A
- Walker, Neil M
- Cooper, Jason D
- Smyth, Deborah J
- Downes, Kate
- Plagnol, Vincent
- Nejentsev, Sergey
- Payne, Felicity
- Yang, Jennie H M
- Vella, Adrian
- Schuilenburg, Helen
- Burren, Oliver S
- Allen, James
- Wallace, Chris
- Howson, Joanna M M
- Guja, Cristian
- Simmonds, Matthew J
- Dunger, David B
- Wicker, Linda S
- Clayton, David G
- Venue
- Nature Genetics
- Published
- 2007-06-06
- Volume
- 39
- Issue
- 7
- Pages
- 857-864
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- PMC
- PMC2492393
- OpenAlex
- W2014077667
- Semantic Scholar
- 15428b611f4dc565b437064d6d67ac0dfdc439e8
- Cited by
- 1,456
- References
- 32
- Citations by year
- 2026: 13 · 2025: 37 · 2024: 34 · 2023: 28 · 2022: 30 · 2021: 53 · 2020: 53 · 2019: 54 · 2018: 41 · 2017: 51 · 2016: 41 · 2015: 67 · 2014: 87 · 2013: 102 · 2012: 110
- FWCI
- 95.32
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature Genetics (publishedVersion)
- PubMed (publishedVersion)
- Lincoln Repository (University of Lincoln) (acceptedVersion)
- PubMed Central (acceptedVersion)
- UCL Discovery (University College London) (submittedVersion)
- Figshare (submittedVersion, cc-by)
- University of Birmingham Research Portal (University of Birmingham) (submittedVersion)
- Bristol Research (University of Bristol) (submittedVersion)
- Data Archiving and Networked Services (DANS) (submittedVersion)
- Funders
- Wellcome Trust (061859/B/00/Z, 061858, 089989)
- Diabetes UK
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Diabetes and associated disorders
- 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
- Keywords
- type 1 diabetes, genome-wide association study, genetic susceptibility loci, chromosome 12q24, chromosome 12q13, chromosome 16p13, non-synonymous SNPs, autoimmune thyroid disease, Wellcome Trust Case Control Consortium
- MeSH terms
- Adolescent, Chromosome Mapping, Diabetes Mellitus, Type 1, Humans, Genome, Human, Case-Control Studies, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide
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
