Genetics of type I diabetes

Best Practice and Research: Clinical Endocrinology and Metabolism

Volumn 15, Issue 3, 2001, Pages 279-291

  Kelly, M Ann ^a   Mijovic, Catherine H ^b   Barnett, Anthony H ^b  

^a QUEEN ELIZABETH HOSPITAL   (United Kingdom)

^b BIRMINGHAM HEARTLANDS HOSPITAL   (United Kingdom)

Author keywords

Genome screens; Human leukocyte antigen (HLA); Insulin gene; Major histocompatibility complex (MHC); Susceptibility genes; Type I diabetes

Indexed keywords

HLA DQ ANTIGEN; INSULIN; HLA ANTIGEN;

AUTOIMMUNE DISEASE; CELLULAR IMMUNITY; CHROMOSOME 11; CHROMOSOME 6; CHROMOSOME IDENTIFICATION; ENVIRONMENTAL FACTOR; FACTORIAL ANALYSIS; GENE ISOLATION; GENE LOCATION; GENE LOCUS; GENE MAPPING; GENETIC ASSOCIATION; GENETIC PREDISPOSITION; GENETIC SUSCEPTIBILITY; HUMAN; INSULIN DEPENDENT DIABETES MELLITUS; PANCREAS ISLET BETA CELL; REVIEW; RISK ASSESSMENT; RISK FACTOR; TANDEM REPEAT; GENETICS;

DIABETES MELLITUS, TYPE 1; GENETIC PREDISPOSITION TO DISEASE; HLA ANTIGENS; HLA-DQ ANTIGENS; HUMANS;

EID: 0034741177     PISSN: 1521690X     EISSN: None     Source Type: Journal    
DOI: 10.1053/beem.2001.0146     Document Type: Article

References (83)

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14. HLA-DRB1*0403 is associated with dominant protection against IDDM in the general Dutch population and subjects with high-risk DQA1*0301-DQB1*0302/DQA1*0501-DQB1*0201 genotype
15. DRBI*0403 protects against IDDM in Caucasians with the high-risk heterozygous DQAI*0301-DQBI*0302/DQAI*0501-DQBI*0201 genotype. Belgian Diabetes Registry
16. Complex interaction between HLA DR and DQ in conferring risk for childhood type 1 diabetes
17. Co-expression of HLA DR3 and DQ8 results in the development of spontaneous insulitis and loss of tolerance to GAD65 in transgenic mice
18. In vivo evidence for the contribution of human histocompatibility leukocyte antigen (HLA)-DQ molecules to the development of diabetes
19. The HLA class II locus DPBI can influence susceptibility to type 1 diabetes
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26. Prevention of insulin-dependent diabetes mellitus in non-obese diabetic mice by transgenes encoding modified 1-A beta-chain or normal 1-E alpha-chain
27. Prevention of diabetes in NOD mice by a mutated 1-Ab transgene
28. Aspartic acid at position 57 of DQ beta chain does not protect against type 1 (insulin-dependent) diabetes mellitus in Japanese subjects
29. A combination of HLA-DQ beta Asp57-negative and HLA-DQ alpha Arg52 confers susceptibility to insulin-dependent diabetes mellitus
30. HLA class II DR-DQ amino acids and insulin-dependent diabetes mellitus: Application of the haplotype method
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32. Three-dimensional structure of the human class II histocompatibility antigen HLA-DR1
33. A peptide binding motif for HLA-DQA1*0102/DQB1*0602, the class II MHC molecule associated with dominant protection in insulin-dependent diabetes mellitus
34. Allele-specific motifs characterize HLA-DQ interactions with a diabetes-associated peptide derived from glutamic acid decarboxylase
35. The peptide binding motif of the disease associated HLA-DQ (alpha 1*0501, beta 1*0201) molecule
36. Exceptional stability of the HLA-DQA1*0102/DQB1*0602 αβ protein dimer, the class II MHC molecule associated with protection from insulin-dependent diabetes mellitus
37. Critical contribution of β chain residue 57 in peptide binding ability of both HLA-DR and -DQ molecules
38. Substitution of aspartic acid at β57 with alanine alters MHC class II peptide binding activity but not protein stability: HLA-DQ (α1*0201, β1*0302) and (α1*0201, β1*0303)
39. β57-Asp plays an essential role in the unique SDS stability of HLA-DQA1*0102/DQB1*0602 αβ protein dimer, the class II MHC allele associated with protection from insulin-dependent diabetes mellitus
40. Molecular basis for HLA-DQ associations with IDDM
41. A mechanism for the major histocompatibility complex-linked resistance to autoimmunity
42. Major histocompatibility complex class 11 molecules can protect from diabetes by positively selecting T cells with additional specificities
43. HLA-DQB1*0602 is associated with dominant protection from diabetes even among islet cell antibody-positive first-degree relatives of patients with IDDM
44. Genetic structure of IDDM1. Two separate regions in the major histocompatibility complex contribute to susceptibility or protection
45. The predisposition to type 1 diabetes linked to the human leukocyte antigen complex includes at least one non-class 11 gene
46. Insulin-dependent diabetes mellitus and the major histocompatibility complex peptide transporters TAP1 and TAP2: No association in a population with a high disease incidence
47. No independent associations of LMP2 and LMP7 polymorphisms with susceptibility to develop IDDM
48. Analysis of tumor necrosis factor-α promoter polymorphism in type 1 diabetes: HLA-B and -DRB1 alleles are primarily associated with the disease in Japanese
49. Association of MHC class I chain-related A (MIC-A) gene polymorphism with type 1 diabetes
50. Insulin-IGF2 region on chromosome 11p encodes a gene implicated in HLA-DR4-dependent diabetes susceptibility
51. Insulin gene region-encoded susceptibility to type 1 diabetes is not restricted to HLA-DR4-positive individuals
52. Susceptibility to insulin dependent diabetes mellitus maps to a 4.1kb segment of DNA spanning the insulin gene and associated VNTR
53. Susceptibility to human type 1 diabetes at IDDM2 is determined by tandem repeat variation at the insulin gene minisatellite locus
54. IDDM2-VNTR-encoded susceptibility to type 1 diabetes: Dominant protection and parental transmission of alleles of the insulin gene-linked minisatellite locus
55. Insulin VNTR allele-specific effect in type 1 diabetes depends on identity of untransmitted paternal haplotype
56. Imprinted and genotype-specific expression of genes at the IDDM2 locus in pancreas and leucocytes
57. Insulin expression in human thymus is modulated by INS VNTR alleles at the IDDM2 locus
58. The insulin gene is transcribed in the human thymus and transcription levels correlated with allelic variation at the INS VNTR-IDDM2 susceptibility locus for type 1 diabetes
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62. The INS 5′ variable number of tandem repeats is associated with IGF2 expression in humans
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67. The analysis of parental origin of alleles may detect susceptibility loci for complex disorders
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69. Evidence by allelic association-dependent methods for a type 1 diabetes polygene (IDDM6) on chromosome 18q21
70. Linkage disequilibrium mapping of a type 1 diabetes susceptibility gene (IDDM7) to chromosome 2q31-q33
71. Evidence for a type 1 diabetes susceptibility locus (IDDM10) on human chromosome 10p11-q11
72. The CTLA-4 gene region of chromosome 2q33 is linked to, and associated with, type 1 diabetes
73. Association of distal chromosome 2q with IDDM in Japanese subjects
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75. Association of polymorphism in the NeuroD/BETA2 gene with type 1 diabetes in the Japanese
76. NeuroD/BETA2 gene variability and diabetes: No associations to late-onset type 2 diabetes but an A45 allele may represent a susceptibility marker for type 1 diabetes among Danes
77. Absence of replication in the French population of the association between beta2/NEUROD-A45T polymorphism and type 1 diabetes
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79. Association of CTLA-4 gene A-G polymorphism (IDDMI2 locus) with acute-onset and insulin-depleted IDDM as well as autoimmune thyroid disease (Graves' disease and Hashimoto's thyroiditis) in the Japanese population
80. Genetic and physical mapping of a type 1 diabetes susceptibility gene (IDDMI2) to a 100-kb phagemid artificial chromosome clone containing D2S72-CTLA4-D2S105 on chromosome 2q33
81. Linkage and association between a CD4 gene polymorphism and IDDM in Danish IDDM patients
82. Chemokine receptor CCR2 and CCR5 polymorphisms in children with insulin-dependent diabetes mellitus
83. Vitamin D receptor allele combinations influence genetic susceptibility to type 1 diabetes in Germans