The genetic basis for type 1 diabetes
Abstract
BACKGROUND: Type 1 diabetes (T1D) is characterized by autoimmune destruction of insulin-producing beta-cells in the pancreas resulting from the action of environmental factors on genetically predisposed individuals. The increasing incidence over recent decades remains unexplained, but the capacity of identifying infants at highest genetic risk has become an increasing requirement for potential therapeutic intervention trials. SOURCES OF DATA: Literature searches on T1D and genes were carried out, and key papers since the 1970s were highlighted for inclusion in this review. AREAS OF AGREEMENT: Early genetic studies identified the most important region for genetic susceptibility to T1D-the human leukocyte antigen genes on chromosome 6; later shown to contribute approximately half of the genetic determination of T1D. The other half is made up of multiple genes, each having a limited individual impact on genetic susceptibility. AREAS OF CONTROVERSY: Historically, there have been many controversial genetic associations with T1D, mostly caused by underpowered case-control studies but these are now decreasing in frequency. AREAS OF GROWTH: The functional effect of each gene associated with T1D must be investigated to determine its usefulness both in risk assessment and as a potential therapeutic target. AREAS TIMELY FOR DEVELOPING RESEARCH: Recently identified copy number variants in DNA and epigenetic modifications (heritable changes not associated with changes in the DNA sequence) are also likely to play a role in genetic susceptibility to T1D.
Integrity signals
Registry
Cites
Statistics
Claims the paper makes
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 most important genes implicated in type 1 diabetes susceptibility and resistance are in the HLA complex on chromosome 6, particularly HLA class II.
“Of the multiple genes implicated in susceptibility (and resistance) to T1D, the most important are the human leukocyte antigen (HLA) complex on chromosome 6, in particular the HLA class II.”
From Epidemiology of type 1 diabetes (2010) · cites this paper as [41]
Two susceptibility haplotypes in the HLA class II region are now considered the principal susceptibility markers for type 1 diabetes.
“Two susceptibility haplotypes in the HLA class II region are now considered the principal susceptibility markers for T1D41.”
From Epidemiology of type 1 diabetes (2010) · cites this paper as [41]
The remaining genetic risk in type 1 diabetes is made up of many diverse genes, each with a small individual impact on genetic susceptibility.
“The remaining genetic risk is made up of many diverse genes, each having a small individual impact on genetic susceptibility41.”
From Epidemiology of type 1 diabetes (2010) · cites this paper as [41]
Cites
The American Journal of Human Genetics
S., J. (1950) · Population · doi:10.2307/1523704 · Cited by 5,124 · see citing works
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 · see citing works
Self-citationHLA-DQβ gene contributes to susceptibility and resistance to insulin-dependent diabetes mellitus
Todd, J. A., Bell, J. I., & McDevitt, H. O. (1987) · Nature · doi:10.1038/329599a0 · Cited by 2,046 · see citing works
Baekkeskov, S., Aanstoot, H.-J., Christgai, S., Reetz, A., Solimena, M., Cascalho, M., Folli, F., Richter-Olesen, H., & Camilli, P.-D. (1990) · Nature · doi:10.1038/347151a0 · Cited by 1,964 · see citing works
Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes
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., et al. (2007) · Nature Genetics · doi:10.1038/ng2068 · Cited by 1,456 · see citing works
A functional variant of lymphoid tyrosine phosphatase is associated with type I diabetes
Bottini, N., Musumeci, L., Alonso, A., Rahmouni, S., Nika, K., Rostamkhani, M., MacMurray, J. P., Meloni, T., Lucarelli, P., Pellecchia, M., et al. (2004) · Nature Genetics · doi:10.1038/ng1323 · Cited by 1,419 · see citing works
A genome-wide search for human type 1 diabetes susceptibility genes
Davies, J. L., Kawaguchi, Y., Bennett, S. T., Copeman, J. B., Cordell, H. J., Pritchard, L. E., Reed, P. W., Gough, S. C. L., Jenkins, S. C., Palmer, S. M., et al. (1994) · Nature · doi:10.1038/371130a0 · Cited by 1,276 · see citing works
Insulin antibodies in insulin-dependent diabetics before insulin treatment
Palmer, J. P., Asplin, C. M., Clemons, P., Lyen, K., Tatpati, O., Raghu, P. K., & Paquette, T. L. (1983) · Science · doi:10.1126/science.6362005 · Cited by 1,078 · see citing works
The cation efflux transporter ZnT8 (Slc30A8) is a major autoantigen in human type 1 diabetes
Wenzlau, J. M., Juhl, K., Yu, L., Moua, O., Sarkar, S. A., Gottlieb, P., Rewers, M., Eisenbarth, G. S., Jensen, J., Davidson, H. W., et al. (2007) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0705894104 · Cited by 1,014 · see citing works
Pugliese, A., Zeller, M., Fernandez, A., Zalcberg, L. J., Bartlett, R. J., Ricordi, C., Pietropaolo, M., Eisenbarth, G. S., Bennett, S. T., & Patel, D. D. (1997) · Nature Genetics · doi:10.1038/ng0397-293 · Cited by 945 · see citing works
Bottazzo, G. F., Dean, B. M., McNally, J. M., MacKay, E. H., Swift, P. G. F., & Gamble, D. R. (1985) · New England Journal of Medicine · doi:10.1056/nejm198508083130604 · Cited by 932 · see citing works
Onkamo, P., Väänänen, S., Karvonen, M., & Tuomilehto, J. O. (1999) · Diabetologia · doi:10.1007/s001250051309 · Cited by 886 · see citing works
HL-A ANTIGENS AND DIABETES MELLITUS
Nerup, J., Platz, P., Andersen, O. O., Christy, M., LYNGSØE, J., Poulsen, J. E., Ryder, L. P., Thomsen, M., Nielsen, L. S., & Svejgaard, A. (1974) · The Lancet · doi:10.1016/s0140-6736(74)91201-x · Cited by 823 · see citing works
Insulin expression in human thymus is modulated by INS VNTR alleles at the IDDM2 locus
Vafiadis, P., Bennett, S. T., Todd, J. A., Nadeau, J., Grabs, R., Goodyer, C. G., Wickramasinghe, S., Colle, E., & Polychronakos, C. (1997) · Nature Genetics · doi:10.1038/ng0397-289 · Cited by 809 · see citing works
Nisticò, L. (1996) · Human Molecular Genetics · doi:10.1093/hmg/5.7.1075 · Cited by 807 · see citing works
Bennett, S. T., Lucassen, A. M., Gough, S. C. L., Powell, E. E., Undlien, D. E., Pritchard, L. E., Merriman, M. E., Kawaguchi, Y., Dronsfield, M. J., Pociot, F., et al. (1995) · Nature Genetics · doi:10.1038/ng0395-284 · Cited by 746 · see citing works
Bell, G. I., Horita, S., & Karam, J. H. (1984) · Diabetes · doi:10.2337/diab.33.2.176 · Cited by 744 · see citing works
Smyth, D. J., Cooper, J. D., Bailey, R., Field, S., Burren, O. S., Smink, L. J., Guja, C., Ionescu-Tirgoviste, C., Widmer, B., Dunger, D. B., et al. (2006) · Nature Genetics · doi:10.1038/ng1800 · Cited by 688 · see citing works
Ziegler, A., Hummel, M., Schenker, M., & Bonifacio, E. E. (1999) · Diabetes · doi:10.2337/diabetes.48.3.460 · Cited by 640 · see citing works
The Rise of Childhood Type 1 Diabetes in the 20th Century
Gale, E. A. (2002) · Diabetes · doi:10.2337/diabetes.51.12.3353 · Cited by 625 · see citing works
Dotta, F., Censini, S., van Halteren, A. G. S., Marselli, L., Masini, M., Dionisi, S., Mosca, F., Boggi, U., Muda, A. O., Prato, S. D., et al. (2007) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0700442104 · Cited by 569 · see citing works
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 568 · see citing works
Assessing the role of HLA-linked and unlinked determinants of disease.
RISCH, N. J. (1987) · PubMed · Cited by 542 · see citing works
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 · see citing works
Bækkeskov, S., Nielsen, J. H., Marner, B., Bilde, T., Ludvigsson, J., & Lernmark, Å. (1982) · Nature · doi:10.1038/298167a0 · Cited by 530 · see citing works
Bingley, P. J., Bonifacio, E. E., Williams, A. J. K., Genovese, S., Bottazzo, G. F., & Gale, E. A. (1997) · Diabetes · doi:10.2337/diab.46.11.1701 · Cited by 460 · see citing works
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 427 · see citing works
Vitamin D supplement in early childhood and risk for Type I (insulin-dependent) diabetes mellitus
Available, N. A. N. (1999) · Diabetologia · doi:10.1007/s001250051112 · Cited by 420 · see citing works
Singal, D. P., & Blajchman, M. A. (1973) · Diabetes · doi:10.2337/diab.22.6.429 · Cited by 412 · see citing works
Genetic Liability of Type 1 Diabetes and the Onset Age Among 22,650 Young Finnish Twin Pairs
Harjutsalo, V., Kaprio, J. A., Kinnunen, L., Koskenvuo, M. J., & Tuomilehto, J. (2003) · Diabetes · doi:10.2337/diabetes.52.4.1052 · Cited by 392 · see citing works
Genetic mapping of a susceptibility locus for insulin-dependent diabetes mellitus on chromosome llq
Hashimoto, L., Habita, C., Beressi, J.-P., Délepine, M., Basse, C. W., Cambon‐Thomsen, A., Deschamps, I., Rotter, J. I., Djoulah, S., James, M. R., et al. (1994) · Nature · doi:10.1038/371161a0 · Cited by 392 · see citing works
Copy number variations and clinical cytogenetic diagnosis of constitutional disorders
Lee, C., Iafrate, A. J., & Brothman, A. R. (2007) · Nature Genetics · doi:10.1038/ng2092 · Cited by 388 · see citing works
Näntö-Salonen, K., Kupila, A., Simell, S., Siljander, H., Salonsaari, T., Hekkala, A., Korhonen, S., Erkkola, R., Sipilä, J. I., Haavisto, L., et al. (2008) · The Lancet · doi:10.1016/s0140-6736(08)61309-4 · Cited by 382 · see citing works
Thomson, G., Robinson, W. P., Kuhner, M. K., Joe, S.-H., MacDonald, M. J., Gottschall, J., Barbosa, J., Rich, S. S., Bertrams, J., & Baur, M. P. (1988) · PubMed · Cited by 365 · see citing works
Vella, A. V., Cooper, J. D., Lowe, C. E., Walker, N. M., Nutland, S. L., Widmer, B., Jones, R. W., Ring, S. M., McArdle, W. L., Pembrey, M. E., et al. (2005) · The American Journal of Human Genetics · doi:10.1086/429843 · Cited by 352 · see citing works
Role of PTPN22 in type 1 diabetes and other autoimmune diseases
Bottini, N., Vang, T., Cucca, F., & Mustelin, T. (2006) · Seminars in Immunology · doi:10.1016/j.smim.2006.03.008 · Cited by 350 · see citing works
Barker, J. M., Barriga, K. J., Yu, L., Miao, D., Erlich, H. A., Norris, J. M., Eisenbarth, G. S., & Rewers, M. (2004) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2003-031887 · Cited by 348 · see citing works
CONCANNON, P. J., Gogolin-Ewens, K. J., Hinds, D. A., Wapelhorst, B., Morrison, V. A., Stirling, B., Mitra, M., Farmer, J. M., Williams, S. R., Cox, N. J., et al. (1998) · Nature Genetics · doi:10.1038/985 · Cited by 336 · see citing works
A search for type 1 diabetes susceptibility genes in families from the United Kingdom
Mein, C. A., Esposito, L., Dunn, M. G., Johnson, G. C. L., Timms, A. E., Goy, J. V., Smith, A. N., Sebag‐Montefiore, L., Merriman, M. E., Wilson, A., et al. (1998) · Nature Genetics · doi:10.1038/991 · Cited by 324 · see citing works
de Beaufort, C. E. (1999) · Open Repository and Bibliography (University of Luxembourg) · Cited by 305 · see citing works
Gillespie, K. M., Bain, S. C., Barnett, A. H., Bingley, P. J., Christie, M. R., Gill, G. V., & Gale, E. A. (2004) · The Lancet · doi:10.1016/s0140-6736(04)17357-1 · Cited by 304 · see citing works
Self-citationEvidence for HL-A-linked genes in "juvenile" diabetes mellitus.
Cudworth, A. G., & Woodrow, J. C. (1975) · BMJ · doi:10.1136/bmj.3.5976.133 · Cited by 288 · see citing works
Stratification of Type 1 Diabetes Risk on the Basis of Islet Autoantibody Characteristics
Achenbach, P., Warncke, K., Reiter, J., Naserke, H. E., Williams, A. J. K., Bingley, P. J., Bonifacio, E. E., & Ziegler, A. (2004) · Diabetes · doi:10.2337/diabetes.53.2.384 · Cited by 276 · see citing works
Cox, N. J., Wapelhorst, B., Morrison, V., Johnson, L. N., Pinchuk, L. M., Spielman, R. S., Todd, J. A., & CONCANNON, P. J. (2001) · The American Journal of Human Genetics · doi:10.1086/323501 · Cited by 262 · see citing works
Extreme genetic risk for type 1A diabetes
Aly, T. A., Ide, A., Jahromi, M. M., Barker, J. M., Fernando, M. S., Babu, S. R., Yu, L., Miao, D., Erlich, H. A., Fain, P. R., et al. (2006) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0606349103 · Cited by 256 · see citing works
Solimena, M., Dirkx, R. A., Hermel, J., Pleasic‐Williams, S., Shapiro, J., Caron, L. A., & Rabin, D. U. (1996) · The EMBO Journal · doi:10.1002/j.1460-2075.1996.tb00564.x · Cited by 256 · see citing works
the FinnDiane Study Group, Hermann, R., Knip, M., Veijola, R., Simell, O., Laine, A.-P., Åkerblom, H. K., Groop, P.-H., Forsblom, C., Pettersson-Fernholm, K., et al. (2003) · Diabetologia · doi:10.1007/s00125-003-1045-4 · Cited by 245 · see citing works
Lambert, A. P., Gillespie, K. M., Thomson, G. J., Cordell, H. J., Todd, J. A., Gale, E. A., & Bingley, P. J. (2004) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2003-032084 · Cited by 240 · see citing works
Self-citationAchenbach, P., Koczwara, K., Knopff, A., Naserke, H. E., Ziegler, A., & Bonifacio, E. E. (2004) · Journal of Clinical Investigation · doi:10.1172/jci21307 · Cited by 238 · see citing works
1,25-Dihydroxyvitamin D3 Prevents Insulitis in NOD Mice
Mathieu, C., Laureys, J. M., Sobis, H., Vandeputte, M., Waer, M., & Bouillon, R. (1992) · Diabetes · doi:10.2337/diab.41.11.1491 · Cited by 238 · see citing works
Fourlanos, S., Varney, M. D., Tait, B. D., Morahan, G., Honeyman, M. C., Colman, P. G., & Harrison, L. C. (2008) · Diabetes Care · doi:10.2337/dc08-0239 · Cited by 228 · see citing works
Association of the Vitamin D Metabolism Gene CYP27B1 With Type 1 Diabetes
Bailey, R., Cooper, J. D., Zeitels, L. R., Smyth, D. J., Yang, J. H. M., Walker, N. M., Hyppönen, E., Dunger, D. B., Ramos‐Lopez, E., Badenhoop, K. W. J., et al. (2007) · Diabetes · doi:10.2337/db07-0652 · Cited by 210 · see citing works
Wenzlau, J. M., Liu, Y., Yu, L., Moua, O., Fowler, K. T., Rangasamy, S., Walters, J., Eisenbarth, G. S., Davidson, H. W., & Hutton, J. C. (2008) · Diabetes · doi:10.2337/db08-0522 · Cited by 205 · see citing works
MLC Typing in Juvenile Diabetes Mellitus and Idiopathic Addison's Disease
Thomsen, M., Platz, P., Andersen, O. O., Christy, M., LYNGSØE, J., NERUP, J., Rasmussen, K. D., Ryder, L. P., Nielsen, L. S., & Svejgaard, A. (1975) · Immunological Reviews · doi:10.1111/j.1600-065x.1975.tb01555.x · Cited by 198 · see citing works
Cucca, F. (2001) · Human Molecular Genetics · doi:10.1093/hmg/10.19.2025 · Cited by 185 · see citing works
Redondo, M. J. (2001) · Recent Progress in Hormone Research · doi:10.1210/rp.56.1.69 · Cited by 183 · see citing works
Type 1 diabetes genes and pathways shared by humans and NOD mice
Wicker, L. S., Clark, J., Fraser, H. I., Garner, V. E. S., González-Muñoz, A., Healy, B. C., Howlett, S., Hunter, K. M. D., Rainbow, D., Rosa, R. L., et al. (2005) · Journal of Autoimmunity · doi:10.1016/j.jaut.2005.09.009 · Cited by 150 · see citing works
Venegas, J. (2008) · Cited by 144 · see citing works
mToR inhibitors-induced proteinuria: mechanisms, significance, and management
Letavernier, E., & Legendre, C. M. (2008) · Transplantation Reviews · doi:10.1016/j.trre.2007.12.001 · Cited by 141 · see citing works
Edghill, E. L., Dix, R. J., Flanagan, S. E., Bingley, P. J., Hattersley, A. T., Ellard, S., & Gillespie, K. M. (2006) · Diabetes · doi:10.2337/db06-0094 · Cited by 124 · see citing works
Self-citationRoll, U., Füchtenbusch, M., Ziegler, A., Christie, M. R., Payton, M. A., & Hawkes, C. J. (1996) · Diabetes · doi:10.2337/diab.45.7.967 · Cited by 121 · see citing works
The molecular genetics of type 1 diabetes: new genes and emerging mechanisms
Ounissi‐Benkalha, H., & Polychronakos, C. (2008) · Trends in Molecular Medicine · doi:10.1016/j.molmed.2008.04.002 · Cited by 113 · see citing works
Ruppert, D. (1971) · AORN Journal · doi:10.1016/s0001-2092(07)64212-4 · Cited by 95 · see citing works
Thomson, G. J. (1988) · Annual Review of Genetics · doi:10.1146/annurev.ge.22.120188.000335 · Cited by 94 · see citing works
Toward Further Mapping of the Association Between the IL2RA Locus and Type 1 Diabetes
Qu, H., Montpetit, A., Ge, B., Hudson, T. J., & Polychronakos, C. (2007) · Diabetes · doi:10.2337/db06-1555 · Cited by 93 · see citing works
Analysis of the Vitamin D Receptor Gene Sequence Variants in Type 1 Diabetes
Nejentsev, S., Cooper, J. D., Godfrey, L., Howson, J. M. M., Rance, H. E., Nutland, S. L., Walker, N. M., Guja, C., Ionescu-Tirgoviste, C., Savage, D. A., et al. (2004) · Diabetes · doi:10.2337/diabetes.53.10.2709 · Cited by 90 · see citing works
Self-citationModi, W., Lautenberger, J., An, P., Scott, K., Goedert, J., Kirk, G., Buchbinder, S., Phair, J., Donfield, S., O'Brien, S., et al. (2006) · American Journal of Human Genetics · doi:10.1086/505331 · Cited by 84 · see citing works
Enterovirus infections and type 1 diabetes
Hyöty, H. (2002) · Annals of Medicine · doi:10.1080/ann.34.3.138.147 · Cited by 83 · see citing works
Bonifacio, E. E., Hummel, M., Walter, M., Schmid, S., & Ziegler, A. (2004) · Diabetes Care · doi:10.2337/diacare.27.11.2695 · Cited by 76 · see citing works
Hawkes, C. J., Wasmeier, C., Christie, M. R., & Hutton, J. C. (1996) · Diabetes · doi:10.2337/diab.45.9.1187 · Cited by 76 · see citing works
Müller, K., & Bendtzen, K. (1993) · Autoimmunity · doi:10.3109/08916939309077355 · Cited by 73 · see citing works
Determinants of IDDM and Perinatal Mortality in Children of Diabetic Mothers
Warram, J. H., Królewski, A. S., & Kahn, C. R. (1988) · Diabetes · doi:10.2337/diab.37.10.1328 · Cited by 64 · see citing works
Sabbah, E., Kulmala, P., Veijola, R., Vähäsalo, P., Karjalainen, J., Tuomilehto‐Wolf, E., Åkerblom, H. K., & Knip, M. (1996) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.81.7.8675560 · Cited by 60 · see citing works
Aly, T. A., Baschal, E. E., Jahromi, M. M., Fernando, M. S., Babu, S. R., Fingerlin, T. E., Kretowski, A. J., Erlich, H. A., Fain, P. R., Rewers, M., et al. (2007) · Diabetes · doi:10.2337/db07-0900 · Cited by 52 · see citing works
DPB1 Alleles Are Associated With Type 1 Diabetes Susceptibility in Multiple Ethnic Groups
Cruz, T. D., Valdes, A. M., Santiago, A., de Llado, T. F., Raffel, L. J., Zeidler, A., Rotter, J. I., Erlich, H. A., Rewers, M., Bugawan, T. L., et al. (2004) · Diabetes · doi:10.2337/diabetes.53.8.2158 · Cited by 50 · see citing works
Kukko, M., Virtanen, S. M., Toivonen, A., Simell, S., Korhonen, S., Ilonen, J., Simel, O., & Knip, M. (2004) · Diabetes Care · doi:10.2337/diacare.27.3.676 · Cited by 46 · see citing works
der Auwera, B. J. R. V., Schuit, F. C., Weets, I., Ivens, A., Autreve, J. E. V., & Gorus, F. (2002) · Human Immunology · doi:10.1016/s0198-8859(01)00362-7 · Cited by 43 · see citing works
The association between the IFIH1 locus and type 1 diabetes
Qu, H., Marchand, L., Grabs, R., & Polychronakos, C. (2007) · Diabetologia · doi:10.1007/s00125-007-0895-6 · Cited by 38 · see citing works
Williams, A. J. K., Aitken, R. J., Chandler, M. A.-M., Gillespie, K. M., Lampasona, V., & Bingley, P. J. (2008) · Diabetologia · doi:10.1007/s00125-008-1047-3 · Cited by 34 · see citing works
Self-citationTemple, I. K. (2007) · KARGER eBooks · doi:10.1159/000109638 · Cited by 31 · see citing works
Determinants of IDDM and perinatal mortality in children of diabetic mothers
Warram, J. H., Królewski, A. S., & Kahn, C. R. (1988) · Diabetes · doi:10.2337/diabetes.37.10.1328 · Cited by 23 · see citing works
Flagged first, then by citations
Cited by
Sorted by citations
Oxidative stress, insulin signaling, and diabetes
Rains, J., & Jain, S. K. (2010) · Free Radical Biology and Medicine · doi:10.1016/j.freeradbiomed.2010.12.006 · Cited by 1,445 · see citing works
Epidemiology of type 1 diabetes
Maahs, D. M., West, N. A., Lawrence, J. M., & Mayer-Davis, E. J. (2010) · Endocrinology and Metabolism Clinics of North America · doi:10.1016/j.ecl.2010.05.011 · Cited by 1,092 · see citing works
Harder, T., Roepke, K., Diller, N., Stechling, Y., Dudenhausen, J. W., & Plagemann, A. (2009) · American Journal of Epidemiology · doi:10.1093/aje/kwp065 · Cited by 220 · see citing works
Pancreatic Beta Cell Death: Novel Potential Mechanisms in Diabetes Therapy
Rojas, J., Bermúdez, V., Palmar, J., Martínez, M. S., Olivar, L. C., Nava, M., Tomey, D., Rojas, M., Salazar, J. J., Garicano, C., et al. (2018) · Journal of Diabetes Research · doi:10.1155/2018/9601801 · Cited by 177 · see citing works
Diagnosis and treatment of type 1 diabetes at the dawn of the personalized medicine era
Akil, A. A., Yassin, E., Al-Maraghi, A., ALIYEV, E. E., Al-Malki, K., & Fakhro, K. A. (2021) · Journal of Translational Medicine · doi:10.1186/s12967-021-02778-6 · Cited by 184 · see citing works
Molecular Mechanisms in Autoimmune Type 1 Diabetes: a Critical Review
Xie, Z., Chang, C., & Zhou, Z. (2014) · Clinical Reviews in Allergy & Immunology · doi:10.1007/s12016-014-8422-2 · Cited by 121 · see citing works
Detecting Rare Variant Associations by Identity-by-Descent Mapping in Case-Control Studies
Browning, S. R., & Thompson, E. A. (2012) · Genetics · doi:10.1534/genetics.111.136937 · Cited by 116 · see citing works
Seldin, M. F. (2015) · Journal of Autoimmunity · doi:10.1016/j.jaut.2015.08.015 · Cited by 105 · see citing works
The Epidemiology of Type 1 Diabetes in Children
Stanescu, D. E., Lord, K., & Lipman, T. H. (2012) · Endocrinology and Metabolism Clinics of North America · doi:10.1016/j.ecl.2012.08.001 · Cited by 104 · see citing works
Role of immune system in type 1 diabetes mellitus pathogenesis
Szablewski, L. (2014) · International Immunopharmacology · doi:10.1016/j.intimp.2014.06.033 · Cited by 98 · see citing works
Magnusson, Å., Laivuori, H. M., Loft, A. G., Oldereid, N. B., Pinborg, A. B., Petzold, M., Romundstad, L. B., Söderström‐Anttila, V., & Bergh, C. (2021) · Frontiers in Pediatrics · doi:10.3389/fped.2021.675775 · Cited by 71 · see citing works
Epidemiology of Type 1 Diabetes
Vanderniet, J. A., Jenkins, A. J., & Donaghue, K. C. (2022) · Current Cardiology Reports · doi:10.1007/s11886-022-01762-w · Cited by 74 · see citing works
Plasma and urine metabolic fingerprinting of type 1 diabetic children
Balderas, C., Rupérez, F. J., Ibáñez, E., Señorans, J., Guerrero-Fernández, J., Casado, I. G., Gracia‐Bouthelier, R., Garcı́a, A., & Barbas, C. (2013) · Electrophoresis · doi:10.1002/elps.201300062 · Cited by 67 · see citing works
Kinin receptors: Key regulators of autoimmunity
Dutra, R. C. (2016) · Autoimmunity Reviews · doi:10.1016/j.autrev.2016.12.011 · Cited by 63 · see citing works
The pancreas in human type 1 diabetes
Rowe, P. A., Campbell‐Thompson, M., Schatz, D., & Atkinson, M. A. (2010) · Seminars in Immunopathology · doi:10.1007/s00281-010-0208-x · Cited by 61 · see citing works
Maternal exposure to air pollution and type 1 diabetes – Accounting for genetic factors
Malmqvist, E., Larsson, H. E., Jönsson, I., Rignell‐Hydbom, A., Ivarsson, S.-A., Tinnerberg, H., Stroh, E., Rittner, R., Jakobsson, K., Swietlicki, E., et al. (2015) · Environmental Research · doi:10.1016/j.envres.2015.03.024 · Cited by 61 · see citing works
Molecular and biochemical trajectories from diabetes to Alzheimer’s disease: A critical appraisal
Sandhir, R., & Gupta, S. N. (2015) · World Journal of Diabetes · doi:10.4239/wjd.v6.i12.1223 · Cited by 47 · see citing works
Definition, Diagnosis and Classification of Diabetes Mellitus
Puchulu, F. M. (2017) · Springer eBooks · doi:10.1007/978-3-319-72475-1_2 · Cited by 37 · see citing works
Mattsson, K., Jönsson, I., Malmqvist, E., Larsson, H., & Rylander, L. (2015) · European Journal of Epidemiology · doi:10.1007/s10654-014-9985-1 · Cited by 39 · see citing works
Identification of loci where DNA methylation potentially mediates genetic risk of type 1 diabetes
Ye, Y., Richardson, T. G., McArdle, W. L., Relton, C. L., Gillespie, K. M., Suderman, M. J., & Hemani, G. (2018) · Journal of Autoimmunity · doi:10.1016/j.jaut.2018.06.005 · Cited by 33 · see citing works
Self-citationCollares, C. V. A., Evangelista, A. F., Xavier, D. J., Takahashi, P., Almeida, R., Macedo, C., Manoel-Caetano, F. S., Foss, M. C., Foss‐Freitas, M. C., Rassi, D. M., et al. (2013) · Molecular Biology Reports · doi:10.1007/s11033-013-2635-y · Cited by 31 · see citing works
Inadequate diabetic care: global figures cry for preventive measures and personalized treatment
George, B., Cebioglu, M., & Yeghiazaryan, K. (2010) · The EPMA Journal · doi:10.1007/s13167-010-0006-5 · Cited by 31 · see citing works
Torres-Avilés, F., Carrasco, E., Icaza, G., & Pérez‐Bravo, F. (2010) · Acta Diabetologica · doi:10.1007/s00592-010-0189-1 · Cited by 27 · see citing works
Structural Architecture of SNP Effects on Complex Traits
Gamazon, E. R., Cox, N. J., & Davis, L. K. (2014) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2014.09.009 · Cited by 24 · see citing works
Advances in the management of diabetes: new devices for type 1 diabetes
Wunna, W., Tsoutsouki, J., Chowdhury, A., & Chowdhury, T. A. (2020) · Postgraduate Medical Journal · doi:10.1136/postgradmedj-2020-138016 · Cited by 19 · see citing works
Wszoła, M., Nitarska, D., Cywoniuk, P., Gomółka, M., & Klak, M. (2021) · Cells · doi:10.3390/cells10061544 · Cited by 15 · see citing works
Circular RNAs: Potential biomarkers and therapeutic targets for autoimmune diseases
Zhao, R. R., Zhang, W., & Fan, X. (2023) · Heliyon · doi:10.1016/j.heliyon.2023.e23694 · Cited by 18 · see citing works
Ahmadi, S., Rostamzade, J., Khosravi, D., Shariati, P., & Shakiba, N. (2013) · Pakistan Journal of Biological Sciences · doi:10.3923/pjbs.2013.1929.1935 · Cited by 18 · see citing works
Kumar, N., Kaur, G., Tandon, N., & Mehra, N. (2012) · Human Immunology · doi:10.1016/j.humimm.2012.01.012 · Cited by 16 · see citing works
Ramani, J., Shah, H., Vyas, V., & Sharma, M. (2022) · European Journal of Medicinal Chemistry Reports · doi:10.1016/j.ejmcr.2022.100074 · Cited by 13 · see citing works
Zemunik, T., & Borask, V. (2011) · InTech eBooks · doi:10.5772/21880 · Cited by 16 · see citing works
Cifuentes, R. A., Rojas-Villarraga, A., & Anaya, J. (2011) · Human Immunology · doi:10.1016/j.humimm.2011.03.012 · Cited by 17 · see citing works
Genes predisposing to type 1 diabetes mellitus and pathophysiology: a narrative review
Yahaya, T., & Salisu, T. F. (2020) · Medical Journal of Indonesia · doi:10.13181/mji.rev.203732 · Cited by 15 · see citing works
Jostins, L., Levine, A. P., & Barrett, J. C. (2013) · PLoS ONE · doi:10.1371/journal.pone.0076328 · Cited by 14 · see citing works
Tran, M. T., Lim, J.-J., Loh, T., Mannering, S., Rossjohn, J., & Reid, H. H. (2024) · Journal of Biological Chemistry · doi:10.1016/j.jbc.2024.107612 · Cited by 12 · see citing works
Oluwagbemi, O. O., Oluwagbemi, F., & Ughamadu, C. (2016) · Informatics in Medicine Unlocked · doi:10.1016/j.imu.2016.03.001 · Cited by 13 · see citing works
Screening for type 1 diabetes: are we nearly there yet?
Narendran, P. (2018) · Diabetologia · doi:10.1007/s00125-018-4774-0 · Cited by 13 · see citing works
Qu, Y., Shi, H., Liu, M., Zhang, M., Wang, H., Pang, L., Zhang, C., Kong, D., & Li, C. (2021) · Molecular Pharmaceutics · doi:10.1021/acs.molpharmaceut.1c00054 · Cited by 12 · see citing works
Trigo, N. F., Kalbermatter, C., Yılmaz, B., & Ganal-Vonarburg, S. C. (2024) · Frontiers in Endocrinology · doi:10.3389/fendo.2024.1425235 · Cited by 11 · see citing works
Prezioso, G., Comegna, L., Giulio, C. D., Franchini, S., Chiarelli, F., & Blasetti, A. (2016) · Expert Review of Clinical Immunology · doi:10.1080/1744666x.2017.1266257 · Cited by 10 · see citing works
Sex Differences in Autoimmune Type-1 Diabetes
Williams, J. M., Poudel, B., & Shields, C. A. (2019) · Elsevier eBooks · doi:10.1016/b978-0-12-813197-8.00015-4 · Cited by 9 · see citing works
The roles of vitamin D and cathelicidin in type 1 diabetes susceptibility
Cristelo, C., Machado, A., Sarmento, B. F. C. C., & Gama, M. (2020) · Endocrine Connections · doi:10.1530/ec-20-0484 · Cited by 10 · see citing works
Kagohashi, Y., & Otani, H. (2015) · BioMed Research International · doi:10.1155/2015/382165 · Cited by 9 · see citing works
Polimorfismo -174 G/C del gen promotor de interleuquina 6 en mujeres con diabetes mellitus tipo 1
Pérez‐Bravo, F., M, F. S., A, P. L., Eyzaguirre, F. C., & Ethel Codner, D. (2011) · Revista médica de Chile · doi:10.4067/s0034-98872011000200003 · Cited by 8 · see citing works
Enterovirus infections and type 1 diabetes mellitus: is there any relationship?
Tavares, R., Trevisol, R., Comerlato, J., Dalzochio, T., Feksa, L., Spilki, F. R., & Berlese, D. B. (2012) · The Journal of venomous animals and toxins including tropical diseases · doi:10.1590/s1678-91992012000100002 · Cited by 8 · see citing works
Understanding of type 1 diabetes mellitus: what we know and where we go
Cheon, C. K. (2018) · Korean Journal of Pediatrics · doi:10.3345/kjp.2018.06870 · Cited by 8 · see citing works
Nakanishi, K., & Shima, Y. (2009) · Diabetes Care · doi:10.2337/dc09-1210 · Cited by 8 · see citing works
In silico analysis reveals interrelation of enriched pathways and genes in type 1 diabetes
Sur, S. (2020) · Immunogenetics · doi:10.1007/s00251-020-01177-3 · Cited by 7 · see citing works
Environmental Factors in the Development of Diabetes Mellitus
Formichi, C., Trimarchi, A., Maccora, C., Nigi, L., & Dotta, F. (2022) · Sustainable development goals series · doi:10.1007/978-3-030-83160-8_14 · Cited by 6 · see citing works
Hypoglycemia in Type 1 Diabetes Mellitus
Şakar, K., & Çınar, N. (2024) · IntechOpen eBooks · doi:10.5772/intechopen.1004108 · Cited by 5 · see citing works
Racial and ethnic differences in cardiovascular disease and outcome in type 1 diabetes patients
Ali, M. T., & Suwaidi, J. M. S. A. (2019) · Expert Review of Endocrinology & Metabolism · doi:10.1080/17446651.2019.1613887 · Cited by 6 · see citing works
Yeghiazaryan, K., Cebioglu, M., & Golubnitschaja, O. (2013) · Advances in predictive, preventive and personalised medicine · doi:10.1007/978-94-007-5971-8_1 · Cited by 5 · see citing works
Obaied, M. H. R., Ozer, N., Alawneh, H. I., & Dalmizrak, O. (2025) · Molecular Biology Reports · doi:10.1007/s11033-025-10438-x · Cited by 4 · see citing works
Wędrychowicz, A., Grzelak, T., Alicja, P., Maria, S. D. D. A., Mari, M., & Starzyk, J. (2023) · Advances in Clinical and Experimental Medicine · doi:10.17219/acem/172446 · Cited by 3 · see citing works
Epidemiology of Type 2 Diabetes
(2012) · BENTHAM SCIENCE PUBLISHERS eBooks · doi:10.2174/97816080536121120101 · Cited by 3 · see citing works
Multiomics in autoimmune diseases
Zahoor, M., Hussain, M. S., Manzoor, Z., Ashraf, S., Ali, A., Alsaffar, R. M., & Ahmad, S. B. (2024) · Elsevier eBooks · doi:10.1016/b978-0-443-23971-7.00008-0 · Cited by 2 · see citing works
Changes in brain structure and function: under-recognized complications of type 1 diabetes
Nunley, K. A. (2014) · D-Scholarship@Pitt (University of Pittsburgh) · Cited by 2 · see citing works
Update on Care of Children with Type 1 Diabetes
Majidi, S., & Maahs, D. M. (2012) · Advances in Pediatrics · doi:10.1016/j.yapd.2012.04.007 · Cited by 1 · see citing works
Metz, C. N., Hudson, L., & Pavlov, V. A. (2016) · Springer eBooks · doi:10.1007/978-3-319-20797-1_11-1 · Cited by 1 · see citing works
Fischer, E. G., Cerilli, L. A., & Lager, D. J. (2013) · Elsevier eBooks · doi:10.1016/b978-0-443-06966-6.00002-7 · Cited by 1 · see citing works
Zhang, Y., Wang, J., Calderón‐Colón, X., Tiburzi, O. N., LOZANO, M. I., Patrone, J. B., & Raimondi, G. (2019) · Diabetes · doi:10.2337/db19-94-or · Cited by 1 · see citing works
Metz, C. N., Hudson, L., & Pavlov, V. A. (2017) · Springer eBooks · doi:10.1007/978-3-319-18741-9_11 · Cited by 1 · see citing works
Type I Diabetes Mellitus in Children and Adolescents
Büyükinan, M. (2023) · doi:10.69860/nobel.9786053359111.27 · Cited by 1 · see citing works
Zhu, X., Bian, F., Zhao, Y., Qin, Y., Sun, X., & Zhou, L. (2021) · Life Sciences · doi:10.1016/j.lfs.2021.119853 · Cited by 1 · see citing works
RetractedLondero, G. F. (2012) · Americanae (AECID Library)
Hereditary Transmission of Diabetes Mellitus
(2013) · Wiley eBooks · doi:10.1002/9781118530665.ch9
Diabetes Type 1 and 2: What is Behind a Classification?
Mimbacas, A., & Javiel, G. (2011) · InTech eBooks · doi:10.5772/22438
Yang, D. K. (2013) · Figshare
Free Radicals and Diabetic Bone Disorder
Hamada, Y., Yasui, S., & Usami, M. (2014) · Springer eBooks · doi:10.1007/978-3-642-30018-9_129
Umbilical Cord Stem Cells for Pancreatic Regenerative Medicine
Roy, H. B., Forraz, N., Jurga, M., & McGUCKIN, C. P. (2012) · Springer eBooks · doi:10.1007/978-1-4471-4171-6_21
Exposure to air pollution during pregnancy and health risks for mother and child
Malmqvist, E. (2014) · Lund University Publications (Lund University)
Investigation of genetic factors in multiple sclerosis
Bomfim, I. L. (2009) · Figshare
Diabetes In Somali Children In Minneapolis and St.Paul, Minnesota
Sunni, M. (2015) · University of Minnesota Digital Conservancy (University of Minnesota)
Homogeneous Assays for Simplified Screening of HLA-conferred Genetic Disease Risk
Kiviniemi, M. (2010) · UTUPub (University of Turku)
Cellular Immunological Mechanisms Contributing to Diabetes Pathogenesis
Radenkovic, M. (2016) · Lund University Publications (Lund University)
Genes predisposing to type 1 diabetes mellitus and pathophysiology: a narrative review
Yahaya, T., & Salisu, T. F. (2021) · arXiv (Cornell University) · doi:10.48550/arxiv.2101.06680
Concepts of Beta-Cell Organ Dysfunction and Failure Would Lead to Earlier Diagnoses and Prevention
Charles, M. A., & Leslie, R. D. G. (2021) · doi:10.2337/figshare.15141837
Concepts of Beta-Cell Organ Dysfunction and Failure Would Lead to Earlier Diagnoses and Prevention
Charles, M. A., & Leslie, R. D. G. (2021) · doi:10.2337/figshare.15141837.v1
EPIDEMIOLOGIA DA RETINOPATIA DIABÉTICA NA DIABETES MELLITUS TIPO 1
Figueira, C. F. C. (2010) · Portuguese National Funding Agency for Science, Research and Technology (RCAAP Project by FCT)
- Authors
- Mehers, K. L., & Gillespie, K. M.
- Affiliations
- Southmead Hospital (GB)
- University of Bristol (GB)
- Corresponding author
- Gillespie, K. M.
- ORCID
- Gillespie, K. M.
- Venue
- British Medical Bulletin
- Publisher
- Oxford University Press (OUP)
- Published
- 2008-12-05
- Volume
- 88
- Issue
- 1
- Pages
- 115-129
- ISSN
- 0007-1420 (ISSN-L)
- 1471-8391
- OpenAlex
- W2140903224
- Cited by
- 83
- References
- 80
- Citations by year
- 2025: 1 · 2024: 4 · 2023: 3 · 2022: 3 · 2021: 8 · 2020: 4 · 2019: 4 · 2018: 4 · 2017: 2 · 2016: 5 · 2015: 7 · 2014: 7 · 2013: 8 · 2012: 9
- FWCI
- 0.45
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- British Medical Bulletin (publishedVersion)
- PubMed (publishedVersion)
- Bristol Research (University of Bristol) (publishedVersion)
- Funders
- University of Bristol
- 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
- Health Sciences › Medicine › Pathology and Forensic Medicine › Multiple Sclerosis Research Studies
- Keywords
- type 1 diabetes, genetic susceptibility, HLA genes, chromosome 6, islet autoimmunity, genetic association studies, copy number variation, epigenetic modifications, risk prediction, therapeutic target
- MeSH terms
- Autoantibodies, Diabetes Mellitus, Type 1, Genes, HLA Antigens, Humans, Infant, Insulin, Islets of Langerhans, Risk Factors, Autoimmunity, Genetic Predisposition to Disease
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