The Inherited Basis of Diabetes Mellitus: Implications for the Genetic Analysis of Complex Traits
Abstract
Diabetes encompasses a heterogeneous group of diseases, each with a substantial genetic component. We review the division of diabetes into different subtypes based on clinical phenotype, the fruitful pursuit of genes underlying monogenic forms of the disease, the successes and drawbacks of whole-genome linkage scans in type 1 and type 2 diabetes, and the recent identification of several diabetes genes by large association studies. We use the lessons learned from this extensive body of evidence to illustrate general implications for the genetic analysis of complex traits.
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The risk of false negatives was illustrated by T2D and the Pro12 → Ala polymorphism in PPARγ: larger studies produced strong and consistent evidence of increased risk by a factor of 1.2, while negative studies lacked adequate power.
“Whereas an initial positive report (61) had not been confirmed in four modest-sized replication studies, larger studies produced strong and consistent evidence of increased risk by a factor of 1.2 (62, 63). The negative studies were actually consistent with the level of increased risk, but simply lacked adequate power to detect it.”
From Genetic Mapping in Human Disease (2008) · cites this paper as [63]
Cites
Mootha, V. K., Lindgren, C. M., Eriksson, K.-F., Subramanian, A., Sihag, S., Lehar, J., Puigserver, P., Carlsson, E., Ridderstråle, M., Laurila, E., et al. (2003) · Nature Genetics · doi:10.1038/ng1180 · Cited by 10,197 · see citing works
Self-citationThe Structure of Haplotype Blocks in the Human Genome
Gabriel, S. B., Schaffner, S. F., Nguyen, H., Moore, J. M., Roy, J., Blumenstiel, B., Higgins, J., DeFelice, M., Lochner, A., Faggart, M., et al. (2002) · Science · doi:10.1126/science.1069424 · Cited by 5,863 · see citing works
Self-citationThe Future of Genetic Studies of Complex Human Diseases
Risch, N., & Merikangas, K. (1996) · Science · doi:10.1126/science.273.5281.1516 · Cited by 5,355 · see citing works
Genetic dissection of complex traits: guidelines for interpreting and reporting linkage results
Lander, E. S., & Kruglyak, L. (1995) · Nature Genetics · doi:10.1038/ng1195-241 · Cited by 5,196 · see citing works
Wu, Z., Puigserver, P., Andersson, U., Zhang, C., Adelmant, G., Mootha, V., Troy, A., Cinti, S., Lowell, B., Scarpulla, R. C., et al. (1999) · Cell · doi:10.1016/s0092-8674(00)80611-x · Cited by 4,139 · see citing works
A Cold-Inducible Coactivator of Nuclear Receptors Linked to Adaptive Thermogenesis
Puigserver, P., Wu, Z., Park, C. W., Graves, R., Wright, M., & Spiegelman, B. M. (1998) · Cell · doi:10.1016/s0092-8674(00)81410-5 · Cited by 3,864 · see citing works
Spielman, R. S., McGinnis, R. E., & Ewens, W. J. (1993) · PubMed · Cited by 3,679 · see citing works
A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis
Feder, J. N., Gnirke, A., Thomas, W., Tsuchihashi, Z., Ruddy, D. A., Basava, A., Dormishian, F., Domingo, R., Ellis, M. C., Fullan, A., et al. (1996) · Nature Genetics · doi:10.1038/ng0896-399 · Cited by 3,664 · see citing works
Bennett, C. L., Christie, J., Ramsdell, F., Brunkow, M., Ferguson, P., Whitesell, L., Kelly, T., Saulsbury, F., Chance, P., & Ochs, H. (2001) · Nature Genetics · doi:10.1038/83713 · Cited by 3,576 · see citing works
Friedreich's Ataxia: Autosomal Recessive Disease Caused by an Intronic GAA Triplet Repeat Expansion
Campuzano, V., Montermini, L., Moltò, M. D., Pianese, L., Cossée, M., Cavalcanti, F., Monros, E., Rodius, F., Duclos, F., Monticelli, A., et al. (1996) · Science · doi:10.1126/science.271.5254.1423 · Cited by 2,786 · see citing works
Harris, M. I., Flegal, K. M., Cowie, C. C., Eberhardt, M. S., Goldstein, D. E., Little, R. R., Wiedmeyer, H.-M., & Byrd-Holt, D. D. (1998) · Diabetes Care · doi:10.2337/diacare.21.4.518 · Cited by 2,703 · see citing works
Projection of an Immunological Self Shadow Within the Thymus by the Aire Protein
Anderson, M. S., Venanzi, E. S., Klein, L., Chen, Z., Berzins, S. P., Turley, S. J., von Boehmer, H., Bronson, R. T., Dierich, A., Benoist, C. O., et al. (2002) · Science · doi:10.1126/science.1075958 · Cited by 2,474 · 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
HLA-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
Wildin, R. S., Ramsdell, F., Peake, J., Faravelli, F., Casanova, J., Buist, N. R. M., Levy‐Lahad, E., Mazzella, M., Goulet, O., Perroni, L., et al. (2001) · Nature Genetics · doi:10.1038/83707 · Cited by 1,916 · see citing works
Lohmueller, K. E., Pearce, C. L., Pike, M., Lander, E. S., & Hirschhorn, J. N. (2003) · Nature Genetics · doi:10.1038/ng1071 · Cited by 1,900 · see citing works
Self-citationInsulin-promoter-factor 1 is required for pancreas development in mice
Jonsson, J., Carlsson, L., Edlund, T., & Edlund, H. (1994) · Nature · doi:10.1038/371606a0 · Cited by 1,879 · see citing works
Control of hepatic gluconeogenesis through the transcriptional coactivator PGC-1
Yoon, J. C., Puigserver, P., Chen, G., Donovan, J., Wu, Z., Rhee, J., Adelmant, G., Stafford, J., Kahn, C. R., Granner, D. K., et al. (2001) · Nature · doi:10.1038/35093050 · Cited by 1,821 · see citing works
The common PPARγ Pro12Ala polymorphism is associated with decreased risk of type 2 diabetes
Altshuler, D., Hirschhorn, J. N., Klannemark, M., Lindgren, C. M., Vohl, M.-C., Nemesh, J., Lane, C. R., Schaffner, S. F., Bolk, S., Brewer, C., et al. (2000) · Nature Genetics · doi:10.1038/79216 · Cited by 1,766 · see citing works
Self-citationPPAR-gamma: adipogenic regulator and thiazolidinedione receptor.
Spiegelman, B. M. (1998) · Diabetes · doi:10.2337/diabetes.47.4.507 · Cited by 1,730 · see citing works
A comprehensive review of genetic association studies
Hirschhorn, J. N., Lohmueller, K., Byrne, E., & Hirschhorn, K. (2002) · Genetics in Medicine · doi:10.1097/00125817-200203000-00002 · Cited by 1,674 · see citing works
Self-citationMutations in the hepatocyte nuclear factor-1α gene in maturity-onset diabetes of the young (MODY3)
Yamagata, K., Oda, N., Kaisaki, P. J., Menzel, S., Furuta, H., Vaxillaire, M., Southam, L., Cox, R., Lathrop, M. G., Boriraj, V. V., et al. (1996) · Nature · doi:10.1038/384455a0 · Cited by 1,610 · see citing works
Genetic variation in the gene encoding calpain-10 is associated with type 2 diabetes mellitus
Horikawa, Y., Oda, N., Cox, N. J., Li, X., Orho‐Melander, M., Hara, M., Hinokio, Y., Lindner, T. H., Mashima, H., Schwarz, P. E. H., et al. (2000) · Nature Genetics · doi:10.1038/79876 · Cited by 1,467 · see citing works
Positional cloning of the APECED gene
Nagamine, K., Peterson, P., Scott, H. S., Kudoh, J., Minoshima, S., Heino, M., Krohn, K. J. E., Lalioti, M. D., Mullis, P. E., Antonarakis, S. E., et al. (1997) · Nature Genetics · doi:10.1038/ng1297-393 · Cited by 1,439 · see citing works
Association study designs for complex diseases
Cardon, L. R., & Bell, J. I. (2001) · Nature Reviews Genetics · doi:10.1038/35052543 · Cited by 1,380 · see citing works
Deeb, S. S., Fajas, L., Nemoto, M., Pihlajamäki, J., Mykkänen, L., Kuusisto, J., Laakso, M., Fujimoto, W., & Auwerx, J. (1998) · Nature Genetics · doi:10.1038/3099 · Cited by 1,319 · 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
Aaltonen, J., Björses, P., Perheentupa, J., Horelli‐Kuitunen, N., Palotie, A. V., Peltonen, L., Lee, Y. S., Francis, F., Henning, S., Thiel, C. S., et al. (1997) · Nature Genetics · doi:10.1038/ng1297-399 · Cited by 1,214 · see citing works
Haplotype tagging for the identification of common disease genes
Johnson, G. C. L., Esposito, L., Barratt, B. J., Smith, A. N., Heward, J., Di Genova, G., Ueda, H., Cordell, H. J., Eaves, I. A., Dudbridge, F., et al. (2001) · Nature Genetics · doi:10.1038/ng1001-233 · Cited by 1,174 · see citing works
Jackson, R. S., Creemers, J. W. M., Ohagi, S., Raffin-Sanson, M.-L., Sanders, L., Montague, C. T., Hutton, J. C., & O'Rahilly, S. (1997) · Nature Genetics · doi:10.1038/ng0797-303 · Cited by 1,153 · see citing works
van den Ouweland, J. M. W., Lemkes, H. H. P. J., Ruitenbeek, W., Sandkuijl, L. A., de Vijlder, M. F., Struyvenberg, P. A. A., van de Kamp, J. J. P., & Maassen, J. A. (1992) · Nature Genetics · doi:10.1038/ng0892-368 · Cited by 1,127 · see citing works
Molecular mechanisms and clinical pathophysiology of maturity-onset diabetes of the young
Fajans, S. S., Bell, G. I., & Polonsky, K. S. (2001) · New England Journal of Medicine · doi:10.1056/nejmra002168 · Cited by 1,123 · see citing works
Stoffers, D. A., Zinkin, N. T., Stanojevic, V., Clarke, W. L., & Habener, J. F. (1997) · Nature Genetics · doi:10.1038/ng0197-106 · Cited by 1,103 · see citing works
Candidate-gene approaches for studying complex genetic traits: practical considerations
Tabor, H. K., Risch, N. J., & Myers, R. M. (2002) · Nature Reviews Genetics · doi:10.1038/nrg796 · Cited by 1,076 · see citing works
Mutations in the hepatocyte nuclear factor-4α gene in maturity-onset diabetes of the young (MODY1)
Yamagata, K., Furuta, H., Oda, N., Kaisaki, P. J., Menzel, S., Cox, N. J., Fajans, S. S., Signorini, S. G., Stoffel, M., & Bell, G. I. (1996) · Nature · doi:10.1038/384458a0 · Cited by 975 · see citing works
Barnett, A. H., Eff, C., Leslie, R. D., & Pyke, D. A. (1981) · Diabetologia · doi:10.1007/bf00262007 · Cited by 966 · 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
Early-onset type-ll diabetes mellitus (MODY4) linked to IPF1
Staffers, D. A., Ferrer, J. P., Clarke, W. L., & Habener, J. F. (1997) · Nature Genetics · doi:10.1038/ng1097-138 · Cited by 880 · see citing works
Mutation in hepatocyte nuclear factor–1β gene (TCF2) associated with MODY
Horikawa, Y., Iwasaki, N., Hara, M., Furuta, H., Hinokio, Y., Cockburn, B. N., Lindner, T. H., Yamagata, K., Ogata, M., Tomonaga, O., et al. (1997) · Nature Genetics · doi:10.1038/ng1297-384 · Cited by 878 · 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
Thomas, P. M., Cote, G. J., Wohllk, N., Haddad, B., Mathew, P. M., Rabl, W., Aguilar-Bryan, L., Gagel, R. F., & Bryan, J. (1995) · Science · doi:10.1126/science.7716548 · Cited by 806 · see citing works
Altshuler, D., Daly, M. J., & Kruglyak, L. (2000) · Nature Genetics · doi:10.1038/79839 · Cited by 762 · see citing works
Self-citationIdentification of the gene altered in Berardinelli–Seip congenital lipodystrophy on chromosome 11q13
Magré, J., Délepine, M., Khallouf, E., Gedde‐Dahl, T., Maldergem, L. V., Sobel, E. M., Papp, J. C., Meier, M., Mégarbané, A., BSCL Working Group, et al. (2001) · Nature Genetics · doi:10.1038/ng585 · Cited by 755 · see citing works
Gloyn, A. L., Weedon, M. N., Owen, K. R., Turner, M. J., Knight, B. A., Hitman, G., Walker, M., Levy, J. C., Sampson, M., Halford, S., et al. (2003) · Diabetes · doi:10.2337/diabetes.52.2.568 · Cited by 754 · see citing works
Inoue, H., Tanizawa, Y., Wasson, J., Behn, P., Kalidas, K., Bernal‐Mizrachi, E., Mueckler, M. M., Marshall, H., Donis-Keller, H., Crock, P., et al. (1998) · Nature Genetics · doi:10.1038/2441 · Cited by 744 · 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
Froguel, P., Zouali, H., Vionnet, N., Velho, G., Vaxillaire, M., Sun, F., Lesage, S., Stoffel, M., Takeda, J., Passa, P., et al. (1993) · New England Journal of Medicine · doi:10.1056/nejm199303113281005 · Cited by 726 · see citing works
LMNA, encoding lamin A/C, is mutated in partial lipodystrophy
Shackleton, S., Lloyd, D. J., Jackson, S. N. J., Evans, R. S., Niermeijer, M. F., Singh, B. M., Schmidt, H., Brabant, G. E., Kumar, S., Durrington, P. N., et al. (2000) · Nature Genetics · doi:10.1038/72807 · Cited by 701 · see citing works
Vionnet, N., Hani, E. H., Dupont, S., Gallina, S., Francke, S., Dotte, S., de Matos, F., Durand, E., Leprêtre, F., Lecœur, C., et al. (2000) · The American Journal of Human Genetics · doi:10.1086/316887 · Cited by 679 · see citing works
Cao, H. (2000) · Human Molecular Genetics · doi:10.1093/hmg/9.1.109 · Cited by 668 · see citing works
Neurodegeneration and diabetes: UK nationwide study of Wolfram (DIDMOAD) syndrome
Barrett, T. G., Bundey, S., & Macleod, A. F. (1995) · The Lancet · doi:10.1016/s0140-6736(95)92473-6 · Cited by 640 · see citing works
Froguel, P., Vaxillaire, M., Sun, F., Velho, G., Zouali, H., Butel, M. O., Lesage, S., Vionnet, N., Clément, K., Fougerousse, F., et al. (1992) · Nature · doi:10.1038/356162a0 · Cited by 631 · see citing works
Quantitative trait loci on chromosomes 3 and 17 influence phenotypes of the metabolic syndrome
Kissebah, A. H., Sonnenberg, G. E., Myklebust, J. B., Goldstein, M., Broman, K. W., James, R. G., Marks, J., Krakower, G. R., Jacob, H. J., Weber, J. L., et al. (2000) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.97.26.14478 · Cited by 629 · see citing works
Mutations in NEUROD1 are associated with the development of type 2 diabetes mellitus
Malecki, M. T., Jhala, U. S., Antonellis, A., Fields, L., Doria, A., Orban, T., Saad, M. F., Warram, J. H., Montminy, M., & Królewski, A. S. (1999) · Nature Genetics · doi:10.1038/15500 · Cited by 619 · see citing works
Poulsen, P., Kyvik, K. O., Vaag, A. A., & Beck‐Nielsen, H. (1999) · Diabetologia · doi:10.1007/s001250051131 · Cited by 614 · see citing works
Hanis, C. L., Boerwinkle, E., Chakraborty, R., Ellsworth, D. L., CONCANNON, P. J., Stirling, B., Morrison, V., Wapelhorst, B., Spielman, R. S., Gogolin-Ewens, K. J., et al. (1996) · Nature Genetics · doi:10.1038/ng0696-161 · Cited by 590 · see citing works
Sequence of the human insulin gene
Bell, G. I., PICTET, R. L., Rutter, W. J., Cordell, B., Tischer, E., & Goodman, H. M. (1980) · Nature · doi:10.1038/284026a0 · Cited by 557 · see citing works
井上, 寛. (2000) · Medical Entomology and Zoology · doi:10.11501/3171821 · Cited by 534 · see citing works
AGPAT2 is mutated in congenital generalized lipodystrophy linked to chromosome 9q34
Agarwal, A. K., Oral, E. A., de Almeida, S., Akkoç, N., Taylor, S. I., Bowcock, A. M., Barnes, R. I., & Garg, A. (2002) · Nature Genetics · doi:10.1038/ng880 · Cited by 522 · see citing works
Bell, G. I., Selby, M., & Rutter, W. J. (1982) · Nature · doi:10.1038/295031a0 · Cited by 514 · see citing works
Liver‐enriched transcription factors and hepatocyte differentiation
Cereghini, S. (1996) · The FASEB Journal · doi:10.1096/fasebj.10.2.8641560 · Cited by 505 · see citing works
Concordance for Type 2 (non-insulin-dependent) diabetes mellitus in male twins
Newman, B. M., Selby, J. V., King, M., Slemenda, C. W., Fabsitz, R. R., & FRIEDMAN, G. D. (1987) · Diabetologia · doi:10.1007/bf00275741 · Cited by 502 · see citing works
Hanson, R. L., Ehm, M. G., Pettitt, D. J., Procházka, M., Thompson, D. B., Timberlake, D. S., Foroud, T., Kobes, S., Baier, L. J., Burns, D. K., et al. (1998) · The American Journal of Human Genetics · doi:10.1086/302061 · Cited by 468 · see citing works
A mutation in the ceruloplasmin gene is associated with systemic hemosiderosis in humans
Yoshida, K., Furihata, K., Takeda, S., Nakamura, A., Yamamoto, K., Morita, H., Hiyamuta, S., Ikeda, S.-I., Shimizu, N., & Yanagisawa, N. (1995) · Nature Genetics · doi:10.1038/ng0395-267 · Cited by 463 · see citing works
Singal, D. P., & Blajchman, M. A. (1973) · Diabetes · doi:10.2337/diab.22.6.429 · Cited by 412 · see citing works
Marron, M. (1997) · Human Molecular Genetics · doi:10.1093/hmg/6.8.1275 · Cited by 406 · see citing works
CTLA4 Alanine-17 Confers Genetic Susceptibility to Graves’ Disease and to Type 1 Diabetes Mellitus1
Donner, H., Rau, H., Walfish, P. G., Braun, J., Siegmund, T., Finke, R., Herwig, J., Usadel, K. H., & Badenhoop, K. W. J. (1997) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.82.1.3699 · Cited by 396 · 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
Pathogenesis of skeletal muscle insulin resistance in type 2 diabetes mellitus
Petersen, K. F., & Shulman, G. I. (2002) · The American Journal of Cardiology · doi:10.1016/s0002-9149(02)02554-7 · Cited by 390 · see citing works
Cox, N. J., Frigge, M., Nicolae, D. L., CONCANNON, P. J., Hanis, C. L., Bell, G. I., & Kong, A. (1999) · Nature Genetics · doi:10.1038/6002 · Cited by 378 · see citing works
Kyvik, K. O., Green, A., & Beck‐Nielsen, H. (1995) · BMJ · doi:10.1136/bmj.311.7010.913 · Cited by 357 · see citing works
Duggirala, R., Blangero, J., Almasy, L., Dyer, T. D., Williams, K. L., Leach, R. J., O'Connell, P., & Stern, M. P. (1999) · The American Journal of Human Genetics · doi:10.1086/302316 · Cited by 337 · 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
Imperatore, G., Hanson, R. L., Pettitt, D. J., Kobes, S., Bennett, P. H., & Knowler, W. C. (1998) · Diabetes · doi:10.2337/diabetes.47.5.821 · Cited by 326 · 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
Linkage disequilibrium of a type 1 diabetes susceptibility locus with a regulatory IL12B allele
Morahan, G., Huang, D., Ymer, S. I., Cancilla, M. R., Stephen, K., Dabadghao, P., Werther, G. A., Tait, B. D., Harrison, L. C., & Colman, P. G. (2001) · Nature Genetics · doi:10.1038/84872 · Cited by 323 · see citing works
Mahtani, M. M., Widén, E., Lehto, M. J., Thomas, J. D., McCarthy, M. I., Brayer, J., Bryant, B. M., Chan, G., Daly, M. J., Forsblom, C. M., et al. (1996) · Nature Genetics · doi:10.1038/ng0996-90 · Cited by 323 · see citing works
Two Mutant Alleles of the Insulin Receptor Gene in a Patient with Extreme Insulin Resistance
Kadowaki, T., Bevins, C. L., Cama, A., Ojamaa, K., Marcus‐Samuels, B., Kadowaki, H., Beitz, L., McKeon, C., & Taylor, S. I. (1988) · Science · doi:10.1126/science.2834824 · Cited by 308 · see citing works
Wiltshire, S., Hattersley, A. T., Hitman, G. A., Walker, M., Lévy, J., Sampson, M., O’Rahilly, S., Frayling, T. M., Bell, J. I., Lathrop, M. G., et al. (2001) · The American Journal of Human Genetics · doi:10.1086/323249 · Cited by 305 · see citing works
A genome-wide search for type 2 diabetes susceptibility genes in Utah Caucasians.
Elbein, S. C., Hoffman, M., Teng, K., Leppert, M., & Hasstedt, S. J. (1999) · Diabetes · doi:10.2337/diabetes.48.5.1175 · Cited by 302 · see citing works
Ek, J., Andersen, G., Urhammer, S. A., Gæde, P. H., Drivsholm, T., Borch-Johnsen, K., Hansen, T., & Pedersen, O. (2001) · Diabetologia · doi:10.1007/s001250100032 · Cited by 293 · see citing works
A calpain-10 gene polymorphism is associated with reduced muscle mRNA levels and insulin resistance
Baier, L. J., Permana, P. A., Yang, X., Pratley, R. E., Hanson, R. L., Shen, G.-Q., Mott, D. M., Knowler, W. C., Cox, N. J., Horikawa, Y., et al. (2000) · Journal of Clinical Investigation · doi:10.1172/jci10665 · Cited by 289 · see citing works
HUMAN TYPE 1 DIABETES AND THE INSULIN GENE: Principles of Mapping Polygenes
Bennett, S. T., & Todd, J. A. (1996) · Annual Review of Genetics · doi:10.1146/annurev.genet.30.1.343 · Cited by 287 · see citing works
Nielsen, E.-M. D., Hansen, L., Carstensen, B., Echwald, S. M., Drivsholm, T., Glümer, C., Thorsteinsson, B., Borch‐Johnsen, K., Hansen, T. F., & Pedersen, O. B. (2003) · Diabetes · doi:10.2337/diabetes.52.2.573 · Cited by 286 · see citing works
CTLA4 Alanine-17 Confers Genetic Susceptibility to Graves' Disease and to Type 1 Diabetes Mellitus
Donner, H. (1997) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.82.1.143 · Cited by 286 · see citing works
Hani, E., Boutin, P., Durand, E., Inoue, H., Permutt, M., Velho, G., & Froguel, P. (1998) · Diabetologia · doi:10.1007/s001250051098 · Cited by 282 · see citing works
Bell, G. I., Xiang, K., Newman, M. V., Wu, S. H., Wright, L. G., Fajans, S. S., Spielman, R. S., & Cox, N. J. (1991) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.88.4.1484 · Cited by 277 · see citing works
The Pro12Ala Polymorphism in PPAR γ2 May Confer Resistance to Type 2 Diabetes
Hara, K., Okada, T., Tobe, K., Yasuda, K., Mori, Y., Kadowaki, H., Hagura, R., Akanuma, Y., Kimura, S., Ito, C., et al. (2000) · Biochemical and Biophysical Research Communications · doi:10.1006/bbrc.2000.2605 · Cited by 273 · 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
Maturity-Onset Diabetes of Youth in Black Americans
Winter, W. E., Maclaren, N. K., Riley, W. J., Clarke, D. W., Kappy, M. S., & Spillar, R. P. (1987) · New England Journal of Medicine · doi:10.1056/nejm198702053160601 · Cited by 258 · see citing works
Wacholder, S., Rothman, N., & Caporaso, N. E. (2002) · PubMed · Cited by 255 · see citing works
Insulin-Resistant Diabetes Due to a Point Mutation That Prevents Insulin Proreceptor Processing
Yoshimasa, Y., Seino, S., Whittaker, J., Kakehi, T., Kosaki, A., Kuzuya, H., Imura, H., Bell, G. I., & Steiner, D. F. (1988) · Science · doi:10.1126/science.3283938 · Cited by 254 · see citing works
A diabetes-susceptible HLA haplotype is best defined by a combination of HLA-DR and -DQ alleles.
Sheehy, M. J., Scharf, S., Rowe, J. R., de Gimenez, M. H. N., Meske, L. M., Erlich, H. A., & Nepom, B. S. (1989) · Journal of Clinical Investigation · doi:10.1172/jci113965 · Cited by 254 · see citing works
Schwanstecher, C., Meyer, U., & Schwanstecher, M. (2002) · Diabetes · doi:10.2337/diabetes.51.3.875 · Cited by 243 · see citing works
Mori, Y., Otabe, S., Christian Dina, C., Yasuda, K., Populaire, C., Lecœur, C., Vatin, V., Durand, E., Hara, K., Okada, T., et al. (2002) · Diabetes · doi:10.2337/diabetes.51.4.1247 · Cited by 242 · see citing works
Ghosh, S., Watanabe, R. M., Valle, T. T., Hauser, E. R., Magnuson, V. L., Langefeld, C. D., Ally, D. S., Mohlke, K. L., Silander, K., Kohtamäki, K., et al. (2000) · The American Journal of Human Genetics · doi:10.1016/s0002-9297(07)62948-6 · Cited by 238 · see citing works
Mori, H., Ikegami, H., Kawaguchi, Y., Seino, S., Norihide, Y., Takeda, J., Inoue, I., Seino, Y., Yasuda, K., Hanafusa, T., et al. (2001) · Diabetes · doi:10.2337/diabetes.50.4.891 · Cited by 238 · see citing works
Todd, J. A., Mijovic, C. H., Fletcher, J., Jenkins, D. J. A., Bradwell, A. R., & Barnett, A. H. (1989) · Nature · doi:10.1038/338587a0 · Cited by 237 · see citing works
Parameters for reliable results in genetic association studies in common disease
Dahlman, I. A., Eaves, I. A., Kosoy, R., Morrison, V., Heward, J. M., Gough, S. C. L., Allahabadia, A., Franklyn, J. A., Tuomilehto, J., Tuomilehto‐Wolf, E., et al. (2002) · Nature Genetics · doi:10.1038/ng825 · Cited by 229 · see citing works
HLA-D and -DR antigens in genetic analysis of insulin dependent diabetes mellitus
Platz, P., JAKOBSEN, B. K., Morling, N., et al. (1981) · Diabetologia · doi:10.1007/bf00251276 · Cited by 229 · see citing works
Testing for population subdivision and association in four case-control studies.
Ardlie, K., Lunetta, K. L., & Seielstad, M. (2002) · American Journal of Human Genetics · doi:10.1086/341719 · Cited by 225 · see citing works
Type 2 diabetes: Evidence for linkage on chromosome 20 in 716 Finnish affected sib pairs
Ghosh, S., Watanabe, R. M., Hauser, E. R., Valle, T. T., Magnuson, V. L., Erdos, M. R., Langefeld, C. D., Balow, J. E., Ally, D. S., Kohtamäki, K., et al. (1999) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.96.5.2198 · Cited by 224 · see citing works
Bowden, D. W., Sale, M. M., Howard, T. D., et al. (1997) · Diabetes · doi:10.2337/diab.46.5.882 · Cited by 211 · see citing works
Copeman, J. B., Cucca, F., Hearne, C. M., Cornall, R. J., Reed, P., Rønningen, K. S., Undlien, D. E., Nisticò, L., Buzzetti, R., TOSI, R. M., et al. (1995) · Nature Genetics · doi:10.1038/ng0195-80 · Cited by 204 · see citing works
Genomewide Search for Type 2 Diabetes Susceptibility Genes in Four American Populations
Ehm, M. G., Karnoub, M., Sakul, H., Gottschalk, K., Holt, D. C., Weber, J. L., Vaske, D. A., Briley, J. D., Briley, L. P., Kopf, J., et al. (2000) · The American Journal of Human Genetics · doi:10.1086/302950 · Cited by 194 · see citing works
A gene for maturity onset diabetes of the young (MODY) maps to chromosome 12q
Vaxillaire, M., Boccio, V., Philippi, A., Vigouroux, C., Terwilliger, J., Passa, P., Beckmann, J. S., Velho, G., Lathrop, M. G., & Froguel, P. (1995) · Nature Genetics · doi:10.1038/ng0495-418 · Cited by 191 · 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
Evans, J., Frayling, T. M., Cassell, P. G., Saker, P. J., Hitman, G. A., Walker, M., Lévy, J., O’Rahilly, S., Rao, P. V. S., Bennett, A. J., et al. (2001) · The American Journal of Human Genetics · doi:10.1086/323315 · Cited by 183 · see citing works
Once and Again—Issues Surrounding Replication in Genetic Association Studies
Hirschhorn, J. N., & Altshuler, D. (2002) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2002-021329 · Cited by 181 · see citing works
Self-citationA locus on chromosome 15q26 (IDDM3) produces susceptibility to insulin-dependent diabetes mellitus
Field, L. L., Tobias, R., & Magnus, T. (1994) · Nature Genetics · doi:10.1038/ng1094-189 · Cited by 171 · see citing works
Hager, J., Hansen, L., Vaisse, C., Vionnet, N., Philippi, A., Poller, W. C., Velho, G., Carcassi, C., Contu, L., Julier, C., et al. (1995) · Nature Genetics · doi:10.1038/ng0395-299 · Cited by 171 · see citing works
Meirhaeghe, A., Lluis Fajas, A., Helbecque, N., Cottel, D., Auwerx, J. H., Deeb, S., & Amouyel, P. (2000) · International Journal of Obesity · doi:10.1038/sj.ijo.0801112 · Cited by 171 · see citing works
Gloyn, A. L., Hashim, Y., Ashcroft, S. J. H., Ashfield, R., Wiltshire, S., & Turner, R. C. (2001) · Diabetic Medicine · doi:10.1046/j.1464-5491.2001.00449.x · Cited by 170 · see citing works
Mancini, F. P., Vaccaro, O., Sabatino, L., et al. (1999) · Diabetes · doi:10.2337/diabetes.48.7.1466 · Cited by 165 · see citing works
Zouali, H. (1997) · Human Molecular Genetics · doi:10.1093/hmg/6.9.1401 · Cited by 165 · see citing works
New Susceptibility Locus for NIDDM Is Localized to Human Chromosome 20q
Ji, L., Malecki, M., Warram, J. H., Yang, Y., Rich, S. S., & Królewski, A. S. (1997) · Diabetes · doi:10.2337/diabetes.46.5.876 · Cited by 159 · see citing works
Sequence Variants in the Sulfonylurea Receptor (SUR) Gene Are Associated With NIDDM in Caucasians
Inoue, H., Ferrer, J., Welling, C., Elbein, S., Hoffman, M. D., Mayorga, R., Warren-Perry, M., Zhang, Y., Millns, H., Turner, R., et al. (1996) · Diabetes · doi:10.2337/diab.45.6.825 · Cited by 157 · see citing works
Pro12Ala Missense Mutation of the Peroxisome Proliferator Activated Receptor γ and Diabetes Mellitus
Ringel, J., Engeli, S., Distler, A., & Sharma, A. M. (1999) · Biochemical and Biophysical Research Communications · doi:10.1006/bbrc.1998.9962 · Cited by 154 · see citing works
Moller, D. E., & Flier, J. S. (1988) · New England Journal of Medicine · doi:10.1056/nejm198812083192306 · Cited by 154 · see citing works
Louet, J., Hayhurst, G. P., Gonzalez, F. J., Girard, J. R., & Decaux, J. (2002) · Journal of Biological Chemistry · doi:10.1074/jbc.m205087200 · Cited by 150 · see citing works
Genetic Variation in the Human Insulin Gene
Ullrich, A., Dull, T. J., Gray, A., et al. (1980) · Science · doi:10.1126/science.6248962 · Cited by 142 · see citing works
HL-A ANTIGENS AND DIABETES MELLITUS
Cudworth, A. G., & Woodrow, J. C. (1974) · The Lancet · doi:10.1016/s0140-6736(74)90930-1 · Cited by 141 · see citing works
Fajans, S. S., & Conn, J. W. (1960) · Diabetes · doi:10.2337/diab.9.2.83 · Cited by 139 · see citing works
Lindgren, C. M., Mahtani, M. M., Widén, E., McCarthy, M. I., Daly, M. J., Kirby, A. W., Reeve, M. P., Kruglyak, L., Parker, A. N., Meyer, J. M., et al. (2002) · The American Journal of Human Genetics · doi:10.1086/338629 · Cited by 137 · see citing works
CTLA4 Gene Polymorphism Confers Susceptibility to Graves' Disease in Japanese
Yanagawa, T., Taniyama, M., Enomoto, S., Gomi, K., Maruyama, H., Ban, Y., & Saruta, T. (1997) · Thyroid · doi:10.1089/thy.1997.7.843 · Cited by 136 · see citing works
The Pro115Gln and Pro12Ala PPAR gamma gene mutations in obesity and type 2 diabetes
Clément, K., Herçberg, S., Passinge, B., Galan, P., Varroud-Vial, M., Shuldiner, A. R., Beamer, B. A., Charpentier, G., Guy-grand, B., Froguel, P., et al. (2000) · International Journal of Obesity · doi:10.1038/sj.ijo.0801191 · Cited by 135 · see citing works
A Genome Scan for Type 2 Diabetes Susceptibility Loci in a Genetically Isolated Population
Permutt, M. A., Wasson, J. C., Suarez, B. K., Lin, J. Y., Thomas, J., Meyer, J. M., Lewitzky, S., Rennich, J. S., Parker, A. N., Duprat, L. J., et al. (2001) · Diabetes · doi:10.2337/diabetes.50.3.681 · Cited by 135 · see citing works
The Peroxisome Poliferator–Activated Receptor-γ2 Pro12Ala Variant
Douglas, J. A., Erdos, M. R., Watanabe, R. M., et al. (2001) · Diabetes · doi:10.2337/diabetes.50.4.886 · Cited by 133 · see citing works
Luo, D. (1996) · Human Molecular Genetics · doi:10.1093/hmg/5.5.693 · Cited by 126 · see citing works
Fullerton, S., Bartoszewicz, A., Ybazeta, G., Horikawa, Y., Bell, G., Kidd, K., Cox, N., Hudson, R., & Rienzo, A. D. (2002) · American Journal of Human Genetics · doi:10.1086/339930 · Cited by 126 · see citing works
Sakura, H., Wat, N., Horton, V., Millns, H., Turner, R. C., & Ashcroft, F. M. (1996) · Diabetologia · doi:10.1007/bf02658512 · Cited by 122 · see citing works
Gene dosage and susceptibility to insulin‐dependent diabetes
Spielman, R. S., Baker, L. W., & Zmijewski, C. M. (1980) · Annals of Human Genetics · doi:10.1111/j.1469-1809.1980.tb00954.x · Cited by 119 · see citing works
Genetic linkage and association studies of Type I diabetes: challenges and rewards
Field, L. L. (2002) · Diabetologia · doi:10.1007/s125-002-8241-7 · Cited by 117 · see citing works
A genome-wide search for Type II diabetes susceptibility genes in Chinese Hans
Luo, T., Zhao, Y., Li, G., et al. (2001) · Diabetologia · doi:10.1007/s001250051649 · Cited by 117 · see citing works
Hansen, T. F., Echwald, S. M., Hansen, L., Møller, A. M., Almind, K., Clausen, J. O., Urhammer, S. A., Inoue, H., Ferrer, J. P., Bryan, J., et al. (1998) · Diabetes · doi:10.2337/diabetes.47.4.598 · Cited by 114 · see citing works
Marron, M. P., Zeidler, A., Raffel, L. J., Eckenrode, S., Yang, J. J., Hopkins, D. I., Garchon, H., Jacob, C. O., Serrano‐Ríos, M., Larrad, M. T. M., et al. (2000) · Diabetes · doi:10.2337/diabetes.49.3.492 · Cited by 112 · see citing works
Genetic epidemiology of type 1 diabetes
Hirschhorn, J. N. (2003) · Pediatric Diabetes · doi:10.1034/j.1399-5448.2001.00013.x · Cited by 112 · see citing works
Self-citationArdlie, K., Liu-Cordero, S., Eberle, M., Daly, M., Barrett, J., Winchester, E., Lander, E., & Kruglyak, L. (2001) · American Journal of Human Genetics · doi:10.1086/323251 · Cited by 112 · see citing works
Hani, E., Clément, K., Velho, G., Vionnet, N., Hager, J., Philippi, A., Dina, C., Inoue, H., Permutt, M., Basdevant, A., et al. (1997) · Diabetes · doi:10.2337/diab.46.4.688 · Cited by 107 · see citing works
Moczulski, D. K., Grzeszczak, W., & Gawlik, B. (2001) · Diabetes Care · doi:10.2337/diacare.24.7.1187 · Cited by 105 · see citing works
Inoue, H., Ferrer, J. P., Warren-Perry, M., Zhang, Y., Millns, H., Turner, R. C., Elbein, S. C., Hampe, C. L., Suarez, B. K., Nobuya, I., et al. (1997) · Diabetes · doi:10.2337/diab.46.3.502 · Cited by 103 · see citing works
Oh, E. Y., Min, K. M., Chung, J. H., et al. (2000) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.85.5.6499 · Cited by 100 · see citing works
Type 2 Diabetes and Three Calpain-10 Gene Polymorphisms in Samoans: No Evidence of Association
Tsai, H., Sun, G., Weeks, D. E., et al. (2001) · The American Journal of Human Genetics · doi:10.1086/324646 · Cited by 100 · see citing works
Rotter, J. I., Anderson, C. E., Rubin, R., Congleton, J., Terasaki, P. I., & Rimoin, D. L. (1983) · Diabetes · doi:10.2337/diab.32.2.169 · Cited by 99 · see citing works
Hitman, G. A., Tarn, A. C., Winter, R. M., Drummond, V., Williams, L. G., Jowett, N. I., Bottazzo, G. F., & Galton, D. J. (1985) · Diabetologia · doi:10.1007/bf00282236 · Cited by 98 · see citing works
Field, L. L., Tobias, R., Thomson, G. J., & Plon, S. E. (1996) · Genomics · doi:10.1006/geno.1996.0153 · Cited by 97 · see citing works
Ghosh, S., Watanabe, R. M., Valle, T. T., et al. (2000) · The American Journal of Human Genetics · doi:10.1086/321185 · Cited by 97 · see citing works
Evidence of a non-MHC susceptibility locus in type I diabetes linked to HLA on chromosome 6.
Délepine, M., Pociot, F., Habita, C., Hashimoto, L., Froguel, P., Rotter, J. I., Cambon‐Thomsen, A., Deschamps, I., Djoulah, S., Weissenbach, J., et al. (1997) · PubMed · Cited by 94 · see citing works
Parker, A. N., Meyer, J. M., Lewitzky, S., Rennich, J. S., Chan, G., Thomas, J. D., Orho‐Melander, M., Lehtovirta, M., Forsblom, C. M., Hyrkkö, A., et al. (2001) · Diabetes · doi:10.2337/diabetes.50.3.675 · Cited by 94 · see citing works
Role of Calpain-10 Gene Variants in Familial Type 2 Diabetes in Caucasians
Elbein, S. C., Chu, W. S., Ren, Q., Hemphill, C., Schay, J., Cox, N. J., Hanis, C. L., & Hasstedt, S. J. (2002) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.87.2.8210 · Cited by 94 · see citing works
A Genomewide Search for Type 2 Diabetes–Susceptibility Genes in Indigenous Australians
Busfield, F., Duffy, D. L., Kesting, J. B., Walker, S. M., Lovelock, P. K., Good, D. M., Tate, H., Watego, D., Marczak, M., Hayman, N. E., et al. (2002) · The American Journal of Human Genetics · doi:10.1086/338626 · Cited by 88 · see citing works
Rasmussen, S., Urhammer, S., Berglund, L., Jensen, J., Hansen, L., Echwald, S., Borch-Johnsen, K., Horikawa, Y., Mashima, H., Lithell, H., et al. (2002) · Diabetes · doi:10.2337/diabetes.51.12.3561 · Cited by 86 · see citing works
Vafiadis, P., Ounissi‐Benkalha, H., Palumbo, M. O., Grabs, R., Rousseau, M., Goodyer, C. G., & Polychronakos, C. (2001) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.86.8.7733 · Cited by 86 · see citing works
Cassell, P. G., Jackson, A. E., North, B. V., Evans, J., Syndercombe‐Court, D., Phillips, C., Ramachandran, A., Snehalatha, C., Gelding, S. V., Vijayaravaghan, S., et al. (2002) · Diabetes · doi:10.2337/diabetes.51.5.1622 · Cited by 85 · see citing works
A human proinsulin variant at arginine 65
Robbins, D. C., BLIX, P. M., Rubenstein, A. H., Kanazawa, Y., Kosáka, K., & Tager, H. S. (1981) · Nature · doi:10.1038/291679a0 · Cited by 84 · see citing works
Rissanen, J., Markkanen, A., Kärkkäinen, P. A., Pihlajamäki, J., Kekäläinen, P., Mykkänen, L. M., Kuusisto, J., Karhapää, P., NISKANEN, L. K., & Laakso, M. (2000) · Diabetes Care · doi:10.2337/diacare.23.1.70 · Cited by 84 · see citing works
Wang, H., Chu, W. S., Das, S. K., Ren, Q., Hasstedt, S. J., & Elbein, S. C. (2002) · Diabetes · doi:10.2337/diabetes.51.9.2861 · Cited by 84 · see citing works
Hart, L. M. ‘., de Knijff, P., Dekker, J. M., Stolk, R. P., Nijpels, G., Does, F. E. E. V. D., Ruige, J. B., Grobbee, D. E., Heine, R. J., & Maassen, J. A. (1999) · Diabetologia · doi:10.1007/s001250051203 · Cited by 82 · see citing works
Hasstedt, S. J., Ren, Q.-F., Teng, K., & Elbein, S. C. (2001) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.86.2.7205 · Cited by 81 · see citing works
Peroxisome Proliferator-Activated Receptor-γ2 P12A and Type 2 Diabetes in Canadian Oji-Cree*
Hegele, R. A., Cao, H., Harris, S. B., et al. (2000) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.85.5.6610 · Cited by 80 · see citing works
Malecki, M., Moczulski, D., Klupa, T., et al. (2002) · European Journal of Endocrinology · doi:10.1530/eje.0.1460695 · Cited by 79 · see citing works
Variation in the Calpain-10 Gene Affects Blood Glucose Levels in the British Population
Lynn, S., Evans, J., White, C., Frayling, T. M., Hattersley, A. T., Turnbull, D. M., Horikawa, Y., Cox, N. J., Bell, G. I., & Walker, M. (2002) · Diabetes · doi:10.2337/diabetes.51.1.247 · Cited by 78 · see citing works
Fingerlin, T., Erdos, M., Watanabe, R., Wiles, K., Stringham, H., Mohlke, K., Silander, K., Valle, T., Buchanan, T., Tuomilehto, J., et al. (2002) · Diabetes · doi:10.2337/diabetes.51.5.1644 · Cited by 75 · see citing works
Hansen, L., Echwald, S. M., Hansen, T. F., Urhammer, S. A., Clausen, J. O., & Pedersen, O. B. (1997) · Diabetes · doi:10.2337/diab.46.3.508 · Cited by 75 · see citing works
Novel susceptibility gene for late-onset NIDDM is localized to human chromosome 12q.
Shaw, J. T. E., Lovelock, P. K., Kesting, J. B., et al. (1998) · Diabetes · doi:10.2337/diabetes.47.11.1793 · Cited by 72 · see citing works
CLOSE GENETIC LINKAGE BETWEEN DIABETES MELLITUS AND KIDD BLOOD GROUP
Hodge, S. E., Neiswanger, K., Spence, M. A., Sparkes, M. C., Terasaki, P. I., Anderson, C. E., Field, L. L., Sparkes, R., Crist, M. L., Rimoin, D., et al. (1981) · The Lancet · doi:10.1016/s0140-6736(81)91391-x · Cited by 68 · see citing works
Daimon, M., Oizumi, T., Saitoh, T., et al. (2002) · Diabetes Research and Clinical Practice · doi:10.1016/s0168-8227(01)00372-2 · Cited by 66 · see citing works
Merriman, T. R., Cordell, H. J., Eaves, I. A., Danoy, P., Coraddu, F., Barber, R. C., Cucca, F., Broadley, S., Sawcer, S. J., Compston, A., et al. (2001) · Diabetes · doi:10.2337/diabetes.50.1.184 · Cited by 64 · see citing works
Evidence for a type 1 diabetes susceptibility locus (IDDM10) on human chromosome 10p11-q11
Reed, P. (1997) · Human Molecular Genetics · doi:10.1093/hmg/6.7.1011 · Cited by 63 · see citing works
Haneda, M., Chan, S. J., Kwok, S. C. M., Rubenstein, A. H., & Steiner, D. F. (1983) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.80.20.6366 · Cited by 62 · see citing works
Li, S. R., Oelbaum, R. S., Baroni, M. G., Stock, J. L., & Galton, D. J. (1988) · The Lancet · doi:10.1016/s0140-6736(88)92836-x · Cited by 61 · see citing works
A Genome-Wide Scan for Obesity in African-Americans
Zhu, X., Cooper, R., Luke, A. H., Chen, G., Wu, X., Kan, D., Chakravarti, A., & Weder, A. B. (2002) · Diabetes · doi:10.2337/diabetes.51.2.541 · Cited by 61 · see citing works
Evidence for oligogenic inheritance of type 1 diabetes in a large Bedouin Arab family.
Verge, C. F., Vardi, P., Babu, S. R., et al. (1998) · Journal of Clinical Investigation · doi:10.1172/jci3379 · Cited by 60 · see citing works
Fine Mapping of the Diabetes-Susceptibility Locus, on Chromosome 11q13
Nakagawa, Y., Kawaguchi, Y., Twells, R. C. J., Muxworthy, C., Hunter, K. M. D., Wilson, A., Merriman, M. E., Cox, R., Merriman, T. R., Cucca, F., et al. (1998) · The American Journal of Human Genetics · doi:10.1086/301974 · Cited by 57 · see citing works
Lei, H., Chen, M. H., Yang, W., et al. (2000) · Metabolism · doi:10.1053/meta.2000.9517 · Cited by 55 · see citing works
Absence of Association of Type 2 Diabetes With CAPN10 and PC-1 Polymorphisms in Oji-Cree
Hegele, R. A., Harris, S. B., Zinman, B., et al. (2001) · Diabetes Care · doi:10.2337/diacare.24.8.1498-a · Cited by 55 · see citing works
Salonen, J. T. (2000) · BMJ · doi:10.1136/bmj.320.7251.1706 · Cited by 48 · see citing works
Chiu, K. C., Province, M. A., Dowse, G. K., Zimmet, P., Wagner, G., Serjeantson, S. W., & Permutt, M. A. (1992) · Diabetologia · doi:10.1007/bf00400254 · Cited by 45 · see citing works
Evidence of a novel type 2 diabetes locus 50 cM centromeric to NIDDM2 on chromosome 12q.
Bektas, A., Suprenant, M. E., Wogan, L. T., et al. (1999) · Diabetes · doi:10.2337/diabetes.48.11.2246 · Cited by 44 · see citing works
Meirhaeghe, A., Helbecque, N., Cottel, D., Arveiler, D., Ruidavets, J., Haas, B., Ferrieres, J., Tauber, J., Bingham, A., & Amouyel, P. (2001) · American journal of medical genetics · doi:10.1002/ajmg.1297 · Cited by 43 · see citing works
Pontiroli, A. E., Capra, F., Veglia, F., Ferrari, M., Xiang, K., Bell, G. I., Baroni, M. G., Galton, D. J., Weaver, J. U., Hitman, G. A., et al. (1996) · Acta Diabetologica · doi:10.1007/bf02048542 · Cited by 42 · see citing works
C282Y and H63D mutations of the hemochromatosis candidate gene in type 2 diabetes.
Fernández‐Real, J. M., Vendrell, J. J., Baiget, M., Gimferrer, E., & Ricart, W. (1999) · Diabetes Care · doi:10.2337/diacare.22.3.525 · Cited by 42 · see citing works
Hasstedt, S. J. (2001) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.86.2.536 · Cited by 41 · see citing works
Ohta, Y., Tanizawa, Y., Inoue, H., Hosaka, T., Ueda, K., Matsutani, A., Repunte, V. P., Yamada, M., Kurachi, Y., Bryan, J., et al. (1998) · Diabetes · doi:10.2337/diabetes.47.3.476 · Cited by 40 · see citing works
Gough, S. C. L., Saker, P. J., Pritchard, L. E., et al. (1995) · Human Molecular Genetics · doi:10.1093/hmg/4.9.1609 · Cited by 38 · see citing works
Leprêtre, F., Vionnet, N., Budhan, S., Christian Dina, C., Powell, K. L., Génin, E., Das, A., Nallam, V., Passa, P., & Froguel, P. (1998) · PubMed · Cited by 37 · see citing works
Oh, E. Y. (2000) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.85.5.1801 · Cited by 34 · see citing works
Tao, T., Tanizawa, Y., Matsutani, A., Matsubara, A., Kaneko, T., & Kaku, K. (1995) · Diabetologia · doi:10.1007/bf00400583 · Cited by 33 · see citing works
Peroxisome Proliferator-Activated Receptor- 2 P12A and Type 2 Diabetes in Canadian Oji-Cree
Hegele, R. A. (2000) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.85.5.2014 · Cited by 30 · see citing works
Linkage of type I diabetes to 15q26 (IDDM3) in the Danish population
Zamani, M., Pociot, F., Raeymaekers, P., Nerup, J., & Cassiman, J. J. (1996) · Human Genetics · doi:10.1007/s004390050245 · Cited by 28 · see citing works
Bowden, D. W., Gravius, T. C., Akots, G., & Fajans, S. S. (1992) · Diabetes · doi:10.2337/diab.41.1.88 · Cited by 28 · see citing works
Eckenrode, S., Marron, M. P., Nicholls, R. D., Yang, M. C. K., Yang, J. J., Fonseca, L. C. G., & She, J. (2000) · Human Genetics · doi:10.1007/s004399900186 · Cited by 28 · see citing works
Vejražková, D., Kunešová, M., Hainer, V., Hill, M., Včelák, J., & Bendlová, B. (2002) · Annals of the New York Academy of Sciences · doi:10.1111/j.1749-6632.2002.tb04282.x · Cited by 27 · see citing works
Hebinck, J., Hardt, C., Schöls, L. J., Vorgerd, M., Briedigkeit, L., Kahn, C. R., & Ristow, M. (2000) · Diabetes · doi:10.2337/diabetes.49.9.1604 · Cited by 24 · see citing works
Linkage Analysis of GLUT1 (HepG2) and GLUT2 (Liver/Islet) Genes in Familial NIDDM
Elbein, S. C., Hoffman, M. D., Matsutani, A., & Permutt, M. A. (1992) · Diabetes · doi:10.2337/diab.41.12.1660 · Cited by 23 · see citing works
McCarthy, M. I., Hitman, G. A., Hitchins, M. P., Riikonen, A., Stengård, J., Nissinen, A. M., Tuomilehto‐Wolf, E., & Tuomilehto, J. (1994) · Diabetic Medicine · doi:10.1111/j.1464-5491.1994.tb02020.x · Cited by 21 · see citing works
Veijola, R., Knip, M., Puukka, R., Reijonen, H., Cox, D. W., & Ilonen, J. (1996) · PubMed Central · Cited by 9 · see citing works
Takekawa, K., Ikegami, H., Fukuda, M., et al. (1994) · Diabetes Research and Clinical Practice · doi:10.1016/0168-8227(94)90097-3 · Cited by 7 · see citing works
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A haplotype map of the human genome
The International HapMap Consortium (2005) · Nature · doi:10.1038/nature04226 · Cited by 5,858 · see citing works
Inflammation, stress, and diabetes
Wellen, K. E., & Hotamisligil, G. S. (2005) · Journal of Clinical Investigation · doi:10.1172/jci25102 · Cited by 4,143 · see citing works
Genetic Mapping in Human Disease
Altshuler, D., Daly, M. J., & Lander, E. S. (2008) · Science · doi:10.1126/science.1156409 · Cited by 1,452 · see citing works
Self-citationCan neuroscience be integrated into the DSM-V?
Hyman, S. E. (2007) · Nature Reviews Neuroscience · doi:10.1038/nrn2218 · Cited by 516 · see citing works
Ali, O. (2013) · World Journal of Diabetes · doi:10.4239/wjd.v4.i4.114 · Cited by 350 · see citing works
Shifting Paradigm of Association Studies: Value of Rare Single-Nucleotide Polymorphisms
Gorlov, I. P., Gorlova, O. Y., Sunyaev, S. R., Spitz, M. R., & Amos, C. I. (2008) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2007.09.006 · Cited by 338 · see citing works
Regulatory polymorphisms underlying complex disease traits.
Knight, J. C. (2005) · Journal of Molecular Medicine · doi:10.1007/s00109-004-0603-7 · Cited by 246 · see citing works
Chibalin, A. V., Leng, Y., Vieira, E., Krook, A., Björnholm, M., Long, Y. C., Kotova, O., Zhong, Z., Sakane, F., Steiler, T., et al. (2008) · Cell · doi:10.1016/j.cell.2007.12.035 · Cited by 232 · see citing works
Bipolar disorder and diabetes mellitus: epidemiology, etiology, and treatment implications
Mcintyre, R., Konarski, J., Misener, V., & Kennedy, S. (2005) · Annals of Clinical Psychiatry · doi:10.1080/10401230590932380 · Cited by 203 · see citing works
Bimodality of 2-h Plasma Glucose Distributions in Whites
Fan, J., May, S. J., Zhou, Y., & Barrett-Connor, E. (2005) · Diabetes Care · doi:10.2337/diacare.28.6.1451 · Cited by 31 · see citing works
- Authors
- Florez, J. C., Hirschhorn, J., & Altshuler, D.
- Affiliations
- Diabetes Unit and Departments of Medicine and Molecular Biology, Massachusetts General Hospital, Boston, Massachusetts 02114,
- Boston Children's Hospital (US)
- Venue
- Annual Review of Genomics and Human Genetics
- Publisher
- Annual Reviews
- Published
- 2003-09
- Volume
- 4
- Issue
- 1
- Pages
- 257-291
- ISSN
- 1527-8204 (ISSN-L)
- 1545-293X
- OpenAlex
- W2136140188
- Cited by
- 329
- References
- 200
- Citations by year
- 2026: 2 · 2025: 4 · 2024: 7 · 2023: 7 · 2022: 4 · 2021: 6 · 2020: 5 · 2019: 7 · 2018: 10 · 2017: 7 · 2016: 11 · 2015: 21 · 2014: 14 · 2013: 16 · 2012: 13
- FWCI
- 2.72
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Annual Review of Genomics and Human Genetics (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Diabetes and associated disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Mapping and Diversity in Plants and Animals
- Keywords
- diabetes mellitus, type 1 diabetes, type 2 diabetes, monogenic diabetes, linkage analysis, genome-wide association study, complex traits, susceptibility genes, diabetes subtypes
- MeSH terms
- Diabetes Mellitus, Type 1, Diabetes Mellitus, Type 2, Humans, Genetic Linkage, 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 ›
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