Genetics of Type 1 Diabetes

Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls

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The International HapMap Project

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Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis

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Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci

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HLA-DQβ gene contributes to susceptibility and resistance to insulin-dependent diabetes mellitus

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Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes

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Tumour-derived soluble MIC ligands impair expression of NKG2D and T-cell activation

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A Missense Single-Nucleotide Polymorphism in a Gene Encoding a Protein Tyrosine Phosphatase (PTPN22) Is Associated with Rheumatoid Arthritis

Begovich, A. B., Carlton, V. E. H., Honigberg, L. A., Schrodi, S. J., Chokkalingam, A. P., Alexander, H. C., Ardlie, K., Huang, Q., Smith, A. M., Spoerke, J. M., et al. (2004) · The American Journal of Human Genetics · doi:10.1086/422827 · Cited by 1,501 · 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

Association between presence of HLA-B*5701, HLA-DR7, and HLA-DQ3 and hypersensitivity to HIV-1 reverse-transcriptase inhibitor abacavir

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Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47

Anderson, C. A., Boucher, G., Lees, C. W., Franke, A., D’Amato, M., Taylor, K. D., Lee, J. C., Goyette, P., Imielinski, M. B., Latiano, A., et al. (2011) · Nature Genetics · doi:10.1038/ng.764 · Cited by 1,312 · see citing works

Genetics, pathogenesis and clinical interventions in type 1 diabetes

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Recognition of Stress-Induced MHC Molecules by Intestinal Epithelial γδ T Cells

Groh, V., Steinle, A., Bauer, S., & Spies, T. A. (1998) · Science · doi:10.1126/science.279.5357.1737 · Cited by 1,142 · see citing works

Diabetes in identical twins

Barnett, A. H., Eff, C., Leslie, R. D., & Pyke, D. A. (1981) · Diabetologia · doi:10.1007/bf00262007 · Cited by 966 · see citing works

Rare Variants of <i>IFIH1</i> , 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 · see citing works

Dense genotyping identifies and localizes multiple common and rare variant association signals in celiac disease

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HL-A ANTIGENS AND DIABETES MELLITUS

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Genetic variations in HLA-B region and hypersensitivity reactions to abacavir

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HLA DR-DQ Haplotypes and Genotypes and Type 1 Diabetes Risk

Erlich, H., Valdes, A. M., Noble, J., Carlson, J. A., Varney, M., Concannon, P., Mychaleckyj, J. C., Todd, J. A., Bonella, P., Fear, A. L., et al. (2008) · Diabetes · doi:10.2337/db07-1331 · Cited by 790 · cited 4× · see citing works

A Polymorphic Locus Near the Human Insulin Gene Is Associated with Insulin-dependent Diabetes Melliitus

Bell, G. I., Horita, S., & Karam, J. H. (1984) · Diabetes · doi:10.2337/diab.33.2.176 · Cited by 744 · see citing works

A genome-wide association study of nonsynonymous SNPs identifies a type 1 diabetes locus in the interferon-induced helicase (IFIH1) region

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

Genome-wide association identifies multiple ulcerative colitis susceptibility loci

McGovern, D. P. B., Gardet, A., Törkvist, L., Goyette, P., Essers, J. B., Taylor, K. D., Neale, B. M., Ong, R. T., Lagacé, C., Li, C., et al. (2010) · Nature Genetics · doi:10.1038/ng.549 · Cited by 654 · see citing works

Pervasive Sharing of Genetic Effects in Autoimmune Disease

Cotsapas, C., Voight, B. F., Rossin, E., Lage, K., Neale, B. M., Wallace, C., Abecasis, G. R., Barrett, J. C., Behrens, T., Cho, J., et al. (2011) · PLoS Genetics · doi:10.1371/journal.pgen.1002254 · Cited by 606 · 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

Genetics of type 1A diabetes

Concannon, P., Rich, S. S., & Nepom, G. T. (2009) · New England Journal of Medicine · doi:10.1056/nejmra0808284 · Cited by 510 · see citing works

Replication of an Association Between the Lymphoid Tyrosine Phosphatase Locus (LYP/PTPN22) With Type 1 Diabetes, and Evidence for Its Role as a General Autoimmunity Locus

Smyth, D. J., Cooper, J. D., Collins, J. E., Heward, J. M., Franklyn, J. A., Howson, J. M. M., Vella, A. V., Nutland, S. L., Rance, H. E., Maier, L. M., et al. (2004) · Diabetes · doi:10.2337/diabetes.53.11.3020 · Cited by 504 · see citing works

The role of HLA class II genes in insulin-dependent diabetes mellitus: molecular analysis of 180 Caucasian, multiplex families.

Noble, J. A., Valdes, A. M., Cook, M., Klitz, W., Thomson, G., & Erlich, H. A. (1996) · PubMed Central · Cited by 481 · see citing works

Gene Copy-Number Variation and Associated Polymorphisms of Complement Component C4 in Human Systemic Lupus Erythematosus (SLE): Low Copy Number Is a Risk Factor for and High Copy Number Is a Protective Factor against SLE Susceptibility in European Americans

Yang, Y., Chung, E. K., Wu, Y. L., Savelli, S., Nagaraja, H. N., Zhou, B., Hebert, M., Jones, K. N., Shu, Y., Kitzmiller, K. J., et al. (2007) · The American Journal of Human Genetics · doi:10.1086/518257 · Cited by 471 · see citing works

The Codon 620 Tryptophan Allele of the Lymphoid Tyrosine Phosphatase (LYP) Gene Is a Major Determinant of Graves’ Disease

Velaga, M., Wilson, V., Jennings, C., Owen, C. J., Herington, S. D., Donaldson, P. T., Ball, S. G., James, R. A., Quinton, R., Perros, P., et al. (2004) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2004-1108 · Cited by 464 · see citing works

Genetics of the HLA Region in the Prediction of Type 1 Diabetes

Noble, J., & Valdés, A. (2011) · Current Diabetes Reports · doi:10.1007/s11892-011-0223-x · Cited by 453 · see citing works

Histocompatibility (HL-A) Antigens, Lymphocytotoxic Antibodies and Tissue Antibodies in Patients with Diabetes Mellitus

Singal, D. P., & Blajchman, M. A. (1973) · Diabetes · doi:10.2337/diab.22.6.429 · Cited by 412 · see citing works

Allelic sequence variation of the HLA-DQ loci: relationship to serology and to insulin-dependent diabetes susceptibility.

Horn, G. T., Bugawan, T. L., Long, C. M., & Erlich, H. A. (1988) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.85.16.6012 · Cited by 378 · see citing works

Concordance for islet autoimmunity among monozygotic twins

Redondo, M. J., Jeffrey, J., Fain, P. R., Eisenbarth, G. S., & Orban, T. (2008) · New England Journal of Medicine · doi:10.1056/nejmc0805398 · Cited by 353 · see citing works

Genetic variants at CD28, PRDM1 and CD2/CD58 are associated with rheumatoid arthritis risk

Raychaudhuri, S., Thomson, B. P., Remmers, E. F., Eyre, S., Hinks, A., Guiducci, C., Catanese, J. J., ., G. X., Stahl, E. A., Chen, R., et al. (2009) · Nature Genetics · doi:10.1038/ng.479 · Cited by 351 · 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

Genetics of Type 1 Diabetes

Steck, A. K., & Rewers, M. (2011) · Clinical Chemistry · doi:10.1373/clinchem.2010.148221 · Cited by 315 · see citing works

Association between the PTPN22 gene and rheumatoid arthritis and juvenile idiopathic arthritis in a UK population: Further support that PTPN22 is an autoimmunity gene

Hinks, A., Barton, A. C., John, S., Bruce, I. N., Hawkins, C., Griffiths, C. E. M., Donn, R. P., Thomson, W., Silman, A. J., & Worthington, J. (2005) · Arthritis & Rheumatism · doi:10.1002/art.21049 · Cited by 304 · see citing works

The importance of phase information for human genomics

Tewhey, R., Bansal, V., Torkamani, A., Topol, E. J., & Schork, N. J. (2011) · Nature Reviews Genetics · doi:10.1038/nrg2950 · Cited by 302 · see citing works

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 301 · see citing works

Mapping Genes in Diabetes: Genetic Epidemiological Perspective

Rich, S. S. (1990) · Diabetes · doi:10.2337/diab.39.11.1315 · Cited by 288 · see citing works

Genome-Wide Association Analysis of Autoantibody Positivity in Type 1 Diabetes Cases

Plagnol, V., Howson, J. M. M., Smyth, D. J., Walker, N. M., Hafler, J. P., Wallace, C., Stevens, H. E., Jackson, L. K., Simmonds, M. J., Bingley, P. J., et al. (2011) · PLoS Genetics · doi:10.1371/journal.pgen.1002216 · Cited by 262 · see citing works

HLA Class I and Genetic Susceptibility to Type 1 Diabetes

Noble, J. A., Valdes, A. M., Varney, M. D., Carlson, J. A., Moonsamy, P., Fear, A. L., Lane, J. A., Lavant, E., Rappner, R., Louey, A., et al. (2010) · Diabetes · doi:10.2337/db10-0699 · Cited by 254 · see citing works

Prediction and Interaction in Complex Disease Genetics: Experience in Type 1 Diabetes

Clayton, D. G. (2009) · PLoS Genetics · doi:10.1371/journal.pgen.1000540 · Cited by 252 · see citing works

A polymorphic locus near the human insulin gene is associated with insulin-dependent diabetes mellitus

Bell, G. I., Horita, S., & Karam, J. H. (1984) · Diabetes · doi:10.2337/diabetes.33.2.176 · Cited by 213 · see citing works

Direct evidence for the contribution of the unique I-ANOD to the development of insulitis in non-obese diabetic mice

Miyazaki, T., Uno, M., Uehira, M., Kikutani, H., Kishimoto, T., Kimoto, M., Nishimoto, H., Miyazaki, J., & Yamamura, K. (1990) · Nature · doi:10.1038/345722a0 · Cited by 200 · see citing works

Trends in the prevalence and incidence of diabetes: insulin-dependent diabetes mellitus in childhood.

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The Type 1 Diabetes Genetics Consortium

Rich, S. S., CONCANNON, P. J., ERLICH, H., Julier, C., Morahan, G., Nerup, J., Pociot, F., & Todd, J. A. (2006) · Annals of the New York Academy of Sciences · doi:10.1196/annals.1375.001 · Cited by 149 · see citing works

Genetic Association Between a Lymphoid Tyrosine Phosphatase (PTPN22) and Type 1 Diabetes

Zheng, W., & She, J. (2005) · Diabetes · doi:10.2337/diabetes.54.3.906 · Cited by 143 · 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

A functional polymorphism (1858C/T) in the PTPN22 gene is linked and associated with type I diabetes in multiplex families

Önengüt-Gümüşcü, S., Ewens, K. G., Spielman, R. S., & CONCANNON, P. J. (2004) · Genes and Immunity · doi:10.1038/sj.gene.6364138 · Cited by 138 · see citing works

Two genes encoding immune-regulatory molecules (LAG3 and IL7R) confer susceptibility to multiple sclerosis

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Confirmation of HLA class II independent type 1 diabetes associations in the major histocompatibility complex including HLA‐B and HLA‐A

Howson, J. M. M., Walker, N. M., Clayton, D. G., & Todd, J. A. (2009) · Diabetes Obesity and Metabolism · doi:10.1111/j.1463-1326.2008.01001.x · Cited by 132 · see citing works

The HLA class I A locus affects susceptibility to type 1 diabetes

Noble, J. A., Valdes, A. M., Bugawan, T. L., Apple, R. J., Thomson, G. J., & Erlich, H. A. (2002) · Human Immunology · doi:10.1016/s0198-8859(02)00421-4 · Cited by 128 · see citing works

Association of the single nucleotide polymorphism C1858T of the PTPN22 gene with type 1 diabetes

Ladner, M. B., Bottini, N., Valdes, A. M., & Noble, J. A. (2004) · Human Immunology · doi:10.1016/j.humimm.2004.09.016 · Cited by 128 · see citing works

Human leukocyte antigen class I B and C loci contribute to Type 1 Diabetes (T1D) susceptibility and age at T1D onset

Valdes, A. M., Erlich, H. A., & Noble, J. A. (2005) · Human Immunology · doi:10.1016/j.humimm.2004.12.001 · Cited by 119 · see citing works

Combinations of specific DRB1, DQA1, DQB1 haplotypes are associated with insulin-dependent diabetes mellitus in sardinia

Cucca, F., Francesco Muntoni, A., Lampis, R., Frau, F., Argiolas, L., Silvetti, M., Angius, E., Cao, A., Virgiliis, S. D., & Congia, M. (1993) · Human Immunology · doi:10.1016/0198-8859(93)90146-r · Cited by 118 · see citing works

Association of MHC Class I chain-related A (MIC-A) gene polymorphism with Type I diabetes

Gambelunghe, G., Ghaderi, M., Cosentino, A., Falorni, A., Brunetti, P., Falorni, A., & Sanjeevi, C. B. (2000) · Diabetologia · doi:10.1007/s001250051336 · Cited by 116 · see citing works

Association of HLA-A24 With Complete β-Cell Destruction in IDDM

Nakanishi, K., Kobayashi, T., Murase, T., Nakatsuji, T., Inoko, H., Tsuji, K., & Kosáka, K. (1993) · Diabetes · doi:10.2337/diab.42.7.1086 · Cited by 114 · see citing works

The HLA class II locus DPB1 can influence susceptibility to type 1 diabetes.

Noble, J. A., Valdes, A. M., Thomson, G., & Erlich, H. A. (2000) · Diabetes · doi:10.2337/diabetes.49.1.121 · Cited by 104 · see citing works

Children followed in the TEDDY study are diagnosed with type 1 diabetes at an early stage of disease: Intense follow-up enables early detection of type 1 diabetes

Elding Larsson, H., Vehik, K., Gesualdo, P., Akolkar, B., Hagopian, W., Krischer, J., Lernmark, Å., Rewers, M., Simell, O., She, J.-X., et al. (2014) · Pediatric Diabetes · doi:10.1111/pedi.12066 · Cited by 103 · see citing works

Genome-Wide Scan for Linkage to Type 1 Diabetes in 2,496 Multiplex Families From the Type 1 Diabetes Genetics Consortium

CONCANNON, P. J., Chen, W., Julier, C., Morahan, G., Akolkar, B., Erlich, H. A., Hilner, J. E., Nerup, J., Nierras, C. R., Pociot, F., et al. (2009) · Diabetes · doi:10.2337/db08-1551 · Cited by 103 · see citing works

Analysis of 19 genes for association with type I diabetes in the Type I Diabetes Genetics Consortium families

Howson, J. M. M., Walker, N. M., Smyth, D. J., & Todd, J. A. (2009) · Genes and Immunity · doi:10.1038/gene.2009.96 · Cited by 95 · see citing works

HLA-DR typing in identical twins with insulin-dependent diabetes: difference between concordant and discordant pairs.

Johnston, C., Pyke, D. A., Cudworth, A. G., & Wolf, E. (1983) · BMJ · doi:10.1136/bmj.286.6361.253 · Cited by 91 · see citing works

The Human Major Histocompatibility System

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Multi-SNP Analysis of MHC Region

Aly, T. A., Eller, E., Ide, A., Gowan, K., Babu, S. R., Erlich, H. A., Rewers, M., Eisenbarth, G. S., & Fain, P. R. (2006) · Diabetes · doi:10.2337/db05-1276 · Cited by 87 · see citing works

Clonal Acquisition of the Ly49A NK Cell Receptor Is Dependent on the trans-Acting Factor TCF-1

Held, W., Kunz, B., Lowin, B., van de Wetering, M., & Clevers, H. C. (1999) · Immunity · doi:10.1016/s1074-7613(00)80118-1 · Cited by 84 · see citing works

HLA DPA1, DPB1 Alleles and Haplotypes Contribute to the Risk Associated With Type 1 Diabetes

Varney, M., Valdés, A., Carlson, J., Noble, J., Tait, B., Bonella, P., Lavant, E., Fear, A. L., Louey, A., Moonsamy, P., et al. (2010) · Diabetes · doi:10.2337/db09-0680 · Cited by 82 · see citing works

HLA in health and disease

Lechler, R. I., & Warrens, A. Ν. (2000) · Cited by 79 · see citing works

HLA antigens and age at diagnosis of insulin-dependent diabetes mellitus

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Juvenile-onset Diabetes: HLA-A, -B, -C, and -DR Alloantigens

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The association of specific HLA class I and II alleles with type 1 diabetes among Filipinos

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Concordance for Type 1 Diabetes in Identical Twins Is Affected by Insulin Genotype

Metcalfe, K. A., Hitman, G. A., Rowe, R. E., Hawa, M. I., Huang, X., Stewart, T. A., & Leslie, R. D. G. (2001) · Diabetes Care · doi:10.2337/diacare.24.5.838 · Cited by 75 · see citing works

HLA Genotype studies in juvenile insulin-dependent diabetes

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Evidence of Gene-Gene Interaction and Age-at-Diagnosis Effects in Type 1 Diabetes

Howson, J. M. M., Cooper, J. D., Smyth, D. J., Walker, N. M., Stevens, H. E., She, J., Eisenbarth, G. S., Rewers, M., Todd, J. A., Akolkar, B., et al. (2012) · Diabetes · doi:10.2337/db11-1694 · Cited by 72 · see citing works

Overview of the Type I Diabetes Genetics Consortium

Rich, S. S., Akolkar, B., CONCANNON, P. J., Erlich, H., Hilner, J. E., Julier, C., Morahan, G., Nerup, J., Nierras, C. R., Pociot, F., et al. (2009) · Genes and Immunity · doi:10.1038/gene.2009.84 · Cited by 69 · see citing works

The HLA-DPB1–Associated Component of the IDDM1 and Its Relationship to the Major Loci HLA-DQB1, -DQA1, and -DRB1

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The Effect of HLA-B Allele on the IDDM Risk Defined by DRB1*04 Subtypes and DQB1*0302

Nejentsev, S., Reijonen, H., Adojaan, B., Kovalchuk, L., Sochnevs, A., Schwartz, E. I., Åkerblom, H. K., & Ilonen, J. (1997) · Diabetes · doi:10.2337/diab.46.11.1888 · Cited by 69 · see citing works

HLA genes associated with autoimmunity and progression to disease in type 1 diabetes

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Confirmation of the association of the R620W polymorphism in the protein tyrosine phosphatase PTPN22 with type 1 diabetes in a family based study

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Prevention of diabetes in NOD mice by a mutated I-Ab transgene.

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Confirmation of novel type 1 diabetes risk loci in families

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Homozygous parent affected sib pair method for detecting disease predisposing variants: Application to insulin dependent diabetes mellitus

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TNF, TNF receptor type 1, and allograft inflammatory factor-1 gene polymorphisms in Japanese patients with type 1 diabetes

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