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Research Article Open access CC BY 3.0

Genetic Markers of Graves’ Disease: A Historical View and Up-date

Dimitry Chistiakov

Journal of Advances in Medicine and Medical Research · pp. 538–568 · Published 10 Oct 2011

10.9734/BJMMR/2011/748

Abstract

Two decades of intensive but quite chaotic and decentralized population studies on susceptibility to Graves’ disease (GD) provided a bulk of inconsistent data resulted in finding of proven association only for the HLA class II region that exerts a major effect in the genetics of GD. Using low-resolution microsatellite-based human genome-wide scans revealed several regions of linkage harboring putative susceptibility variants. Further, high throughput genotyping of large population cohorts with help of high dense panels of single nucleotide polymorphisms (SNPs) and application of advanced tools for analysis of extended blocks of linkage disequilibrium within a candidate gene (SNP tagging, etc.) revealed the presence of several susceptibility genes in the regions of linkage on chromosome 2q (CTLA-4), 8q (Tg), 14q (TSHR), 20q (CD40), 5q (SCGB3A2/UGRP1) and, probably, Xp (FOXP3). The list of GD-predisposing loci was then extended with three more genes (PTPN22, IL2RA/CD25, and FCRL3). In the nearest future, implementation of even more robust technology such as whole-genome sequencing is expected to catch any disease-associated genetic variation in the patient’s individual DNA. In this review, the historical development of our knowledge on genetic factors predisposing to GD is considered, with special emphasis on the functional significance of observed associations and discussion of possible mechanisms of their contribution to GD pathogenesis.

Autoimmune thyroid disease Graves’ disease thyroid autoimmunity genetic susceptibility association polymorphism

References (257)

  1. 1 Genetic dissection of complex traits: guidelines for interpreting and reporting linkage results [DOI]
  2. 2 Disruption of a new forkhead/winged-helix protein, scurfin, results in the fatal lymphoproliferative disorder of the scurfy mouse [DOI]
  3. 3 Association of the T-cell regulatory gene CTLA4 with susceptibility to autoimmune disease [DOI]
  4. 4 A functional variant of lymphoid tyrosine phosphatase is associated with type I diabetes [DOI]
  5. 5 Haplotype tagging for the identification of common disease genes [DOI]
  6. 6 Scavenger receptors: role in innate immunity and microbial pathogenesis [DOI]
  7. 7 A genome-wide association study identifies two new risk loci for Graves' disease [DOI]
  8. 8 The autoimmune disease–associated PTPN22 variant promotes calpain-mediated Lyp/Pep degradation associated with lymphocyte and dendritic cell hyperresponsiveness [DOI]
  9. 9 The HLA gene complex in thyroid autoimmunity: From epidemiology to etiology [DOI]
  10. 10 Cutting Edge: A Soluble Form of CTLA-4 in Patients with Autoimmune Thyroid Disease [DOI]
  11. 11 A CTLA-4 gene polymorphism at position −318 in the promoter region affects the expression of protein [DOI]
  12. 12 Cytotoxic T-Lymphocyte Associated Antigen 4 Gene Polymorphisms and Autoimmune Thyroid Disease: A Meta-Analysis [DOI]
  13. 13 PTPN22 Deficiency Cooperates with the CD45 E613R Allele to Break Tolerance on a Non-Autoimmune Background [DOI]
  14. 14 Lymphoid tyrosine phosphatase (PTPN22/LYP) variant and Graves’ disease in a Polish population: association and gene dose‐dependent correlation with age of onset [DOI]
  15. 15 The human T cell antigen gp39, a member of the TNF gene family, is a ligand for the CD40 receptor: expression of a soluble form of gp39 with B cell co‐stimulatory activity. [DOI]
  16. 16 Amino acid substitutions in the thyroglobulin gene are associated with susceptibility to human and murine autoimmune thyroid disease [DOI]
  17. 17 The regulatory T cell gene FOXP3 and genetic susceptibility to thyroid autoimmunity: An association analysis in Caucasian and Japanese cohorts [DOI]
  18. 18 Association of functional polymorphisms related to the transcriptional level of FOXP3 with prognosis of autoimmune thyroid diseases [DOI]
  19. 19 FCRL3, an Autoimmune Susceptibility Gene, Has Inhibitory Potential on B-Cell Receptor-Mediated Signaling [DOI]
  20. 20 Expression of the Autoimmune Susceptibility Gene FcRL3 on Human Regulatory T Cells Is Associated with Dysfunction and High Levels of Programmed Cell Death-1 [DOI]
  21. 21 Cloning and sequencing of a 1.3 kb variant of human thyrotropin receptor mRNA lacking the transmembrane domain [DOI]
  22. 22 Fc Receptor-Like 3 Protein Expressed on IL-2 Nonresponsive Subset of Human Regulatory T Cells [DOI]
  23. 23 Genetic analysis and functional evaluation of the C/T(−318) and A/G(−1661) polymorphisms of the CTLA-4 gene in patients affected with Graves' disease [DOI]
  24. 24 Association of Autoimmune Thyroid Disease with Microsatellite Markers for the Thyrotropin Receptor Gene and CTLA-4 in Japanese Patients [DOI]
  25. 25 Regulatory T cells in Graves’ disease [DOI]
  26. 26 Dissecting genetic heterogeneity in autoimmune thyroid diseases by subset analysis [DOI]
  27. 27 A Variant of the Il2ra / Cd25 Gene Predisposing to Graves’ Disease is Associated with Increased Levels of Soluble Interleukin‐2 Receptor [DOI]
  28. 28 Technological Issues and Experimental Design of Gene Association Studies [DOI]
  29. 29 Aspartic acid at position 57 of the HLA-DQ beta chain protects against type I diabetes: a family study. [DOI]
  30. 30 HLA ANTIGENS IN GRAVES' DISEASE [DOI]
  31. 31 Human histocompatibility leukocyte antigen-DQA1*0501 allele associated with genetic susceptibility to Graves' disease in a Caucasian population. [DOI]
  32. 32 CTLA-4 and Not CD28 Is a Susceptibility Gene for Thyroid Autoantibody Production1 [DOI]
  33. 33 The Living City
  34. 34 A Polymorphism in the Human UGRP1 Gene Promoter That Regulates Transcription Is Associated with an Increased Risk of Asthma [DOI]
  35. 35 Room for manoeuvre? [DOI]
  36. 36 IL2RA/CD25 polymorphisms contribute to multiple sclerosis susceptibility [DOI]
  37. 37 Thyroid-stimulating hormone receptor and its role in Graves’ disease [DOI]
  38. 38 HLA and CTLA4 polymorphisms may confer a synergistic risk in the susceptibility to Graves’ disease [DOI]
  39. 39 Association of Fc receptor‐like 5 (FCRL5) with Graves’ disease is secondary to the effect of FCRL3 [DOI]
  40. 40 Old wine in new bottles? An overview of Africa's urban problems and the "urban management" approach to dealing with them. [DOI]
  41. 41 CTLA-4 AT-Repeat Polymorphism Reduces the Inhibitory Function of CTLA-4 in Graves' Disease [DOI]
  42. 42 The Introduction and Conclusion [DOI]
  43. 43 Serum soluble IL-2 receptor as a marker of lymphocyte activation in some autoimmune diseases. Effect of immunosuppressive therapy.
  44. 44 Functional analysis of a variant of the thyrotropin receptor gene in a family with Graves' disease [DOI]
  45. 45 Screening of SNPs at 18 positional candidate genes, located within the GD-1 locus on chromosome 14q23–q32, for susceptibility to Graves’ disease: a TDT study [DOI]
  46. 46 Habitat International Coalition [DOI]
  47. 47 Fine-Mapping Chromosome 20 in 230 Systemic Lupus Erythematosus Sib Pair and Multiplex Families: Evidence for Genetic Epistasis with Chromosome 16q12 [DOI]
  48. 48 The 'tugurios' of San Salvador: a place to live, work and struggle [DOI]
  49. 49 Community Development Corporations [DOI]
  50. 50 Heredity in graves' disease : with remarks on heredity in toxic adenoma in the thyroid, non-toxic goitre, and myxoedema
  51. 51 A Missense Single-Nucleotide Polymorphism in a Gene Encoding a Protein Tyrosine Phosphatase (PTPN22) Is Associated with Rheumatoid Arthritis [DOI]
  52. 52 Reversal of the TCR Stop Signal by CTLA-4 [DOI]
  53. 53 Common variants at CD40 and other loci confer risk of rheumatoid arthritis [DOI]
  54. 54 PEST Domain-Enriched Tyrosine Phosphatase (PEP) Regulation of Effector/Memory T Cells [DOI]
  55. 55 CTLA-4 gene expression is influenced by promoter and exon 1 polymorphisms [DOI]
  56. 56 Localization of a Type 1 Diabetes Locus in the IL2RA/CD25 Region by Use of Tag Single-Nucleotide Polymorphisms [DOI]
  57. 57 A soluble form of CTLA-4 generated by alternative splicing is expressed by nonstimulated human T cells [DOI]
  58. 58 Ethnic differences in allele frequency of autoimmune-disease-associated SNPs [DOI]
  59. 59 Common and Unique Susceptibility Loci in Graves and Hashimoto Diseases: Results of Whole-Genome Screening in a Data Set of 102 Multiplex Families [DOI]
  60. 60 Interleukin-2 receptor signaling in regulatory T cell development and homeostasis [DOI]
  61. 61 Protein tyrosine phosphatase PTPN22 in human autoimmunity [DOI]
  62. 62 CD40/CD40L signaling and its implication in health and disease [DOI]
  63. 63 Association of the interleukin‐2 receptor alpha (IL‐2Rα)/CD25 gene region with Graves’ disease using a multilocus test and tag SNPs [DOI]
  64. 64 The regulation of Foxp3 expression in regulatory CD4+CD25+T cells: Multiple pathways on the road [DOI]
  65. 65 Thyroglobulin Is a Thyroid Specific Gene for the Familial Autoimmune Thyroid Diseases [DOI]
  66. 66 The Genetics of Autoimmune Thyroid Disease [DOI]
  67. 67 A population‐based study of Graves' disease in Danish twins [DOI]
  68. 68 IRTAs: a new family of immunoglobulinlike receptors differentially expressed in B cells [DOI]
  69. 69 Association of the IL2RA/CD25 gene with juvenile idiopathic arthritis [DOI]
  70. 70 Contribution of Single Nucleotide Polymorphisms withinFCRL3andMAP3K7IP2to the Pathogenesis of Graves’ Disease [DOI]
  71. 71 Primary role of the HLA class II DRB1*0301 allele in graves disease [DOI]
  72. 72 Association of APOEpolymorphism with chronic kidney disease in a nationally representative sample: a Third National Health and Nutrition Examination Survey (NHANES III) Genetic Study [DOI]
  73. 73 The Codon 620 Single Nucleotide Polymorphism of the Protein Tyrosine Phosphatase-22 Gene Does not Contribute to Autoimmune Thyroid Disease Susceptibility in the Japanese [DOI]
  74. 74 New B-cell CD molecules [DOI]
  75. 75 Association of CD40 Gene Polymorphism (C-1T) with Susceptibility and Phenotype of Graves' Disease [DOI]
  76. 76 The Genetics of Graves’ Disease: HLA and Disease Susceptibility* [DOI]
  77. 77 GRAVES' DISEASE AND HLA: CLINICAL AND EPIDEMIOLOGIC ASSOCIATIONS [DOI]
  78. 78 Linkage Analysis of Candidate Genes in Autoimmune Thyroid Disease. II. Selected Gender-Related Genes and the X-Chromosome [DOI]
  79. 79 HLA-DRB1108, DRB1103/DRB310101, and DRB310202 Are Susceptibility Genes for Graves’ Disease in North American Caucasians, Whereas DRB1107 Is Protective1 [DOI]
  80. 80 Association of a Rare Thyroglobulin Gene Microsatellite Variant with Autoimmune Thyroid Disease [DOI]
  81. 81 Possible Interaction Between HLA-DR β 1 and Thyroglobulin Variants in Graves' Disease [DOI]
  82. 82 Allelic effects on gene regulation at the autoimmunity-predisposing CTLA4 locus: a re-evaluation of the 3′ +6230G>A polymorphism [DOI]
  83. 83 The crucial role of IL-2/IL-2RA-mediated immune regulation in the pathogenesis of type 1 diabetes, an evidence coming from genetic and animal model studies [DOI]
  84. 84 Association of the thyroglobulin gene polymorphism with autoimmune thyroid disease in Chinese population [DOI]
  85. 85 Employing a Recombinant HLA-DR3 Expression System to Dissect Major Histocompatibility Complex II-Thyroglobulin Peptide Dynamism [DOI]
  86. 86 Association between Fc receptor-like 3 C169T polymorphism and risk of systemic lupus erythematosus: a meta-analysis [DOI]
  87. 87 The relationship between thyroid function, serum monokine induced by interferon gamma and soluble interleukin-2 receptor in thyroid autoimmune diseases [DOI]
  88. 88 Genetics of Type 1 Diabetes and Autoimmune Thyroid Disease [DOI]
  89. 89 Thyrotropin Receptor Polymorphisms and Thyroid Diseases [DOI]
  90. 90 Lack of Association Between Polymorphism of the Thyrotropin Receptor Gene and Graves' Disease in United Kingdom and Hong Kong Chinese Patients: Case Control and Family-Based Studies [DOI]
  91. 91 A Roadmap for HLA-DR Peptide Binding Specificities [DOI]
  92. 92 A single nucleotide polymorphism in the CD40 gene on chromosome 20q (GD‐2) provides no evidence for susceptibility to Graves’ disease in UK Caucasians [DOI]
  93. 93 Analysis of the genetic variability of the 1st (CCC/ACC, P52T) and the 10th exons (bp 1012–1704) of the TSH receptor gene in Graves’ disease [DOI]
  94. 94 Exon 33 T/T genotype of the thyroglobulin gene is a susceptibility gene for Graves’ disease in Taiwanese and exon 12 C/C genotype protects against it [DOI]
  95. 95 Influence of thyroxine on serum soluble interleukin-2 receptor alpha levels in thyroid disorders [DOI]
  96. 96 Biochemical analysis of CTLA-4 immunoreactive material from human blood [DOI]
  97. 97 Socially responsible capitalism [DOI]
  98. 98 HL-A Antigens as Markers for Disease Susceptibility and Autoimmunity in Graves' Disease [DOI]
  99. 99 The Association of HLA with Autoimmune Thyroid Disease in Newfoundland. The Influence of HLA Homozygosity in Graves’ Disease [DOI]
  100. 100 Further Evidence for a Susceptibility Locus on Chromosome 20q13.11 in Families with Dominant Transmission of Graves Disease [DOI]
  101. 101 The Future of Genetic Studies of Complex Human Diseases [DOI]
  102. 102 The Wellcome Trust Case Control Consortium, U.K. [DOI]
  103. 103 HLA-DQβ gene contributes to susceptibility and resistance to insulin-dependent diabetes mellitus [DOI]
  104. 104 Trans-Endocytosis of CD80 and CD86: A Molecular Basis for the Cell-Extrinsic Function of CTLA-4 [DOI]
  105. 105 Association scan of 14,500 nonsynonymous SNPs in four diseases identifies autoimmunity variants [DOI]
  106. 106 A genome-wide search for human type 1 diabetes susceptibility genes [DOI]
  107. 107 Autoimmune-associated lymphoid tyrosine phosphatase is a gain-of-function variant [DOI]
  108. 108 Genetic Association of the R620W Polymorphism of Protein Tyrosine Phosphatase PTPN22 with Human SLE [DOI]
  109. 109 Overview of interleukin-2 function, production and clinical applications [DOI]
  110. 110 CTLA-4 gene polymorphism associated with Graves' disease in a Caucasian population. [DOI]
  111. 111 Evidence for a Major Role of Heredity in Graves’ Disease: A Population-Based Study of Two Danish Twin Cohorts1 [DOI]
  112. 112 CTLA4 Alanine-17 Confers Genetic Susceptibility to Graves’ Disease and to Type 1 Diabetes Mellitus1 [DOI]
  113. 113 A Common Autoimmunity Predisposing Signal Peptide Variant of the Cytotoxic T-lymphocyte Antigen 4 Results in Inefficient Glycosylation of the Susceptibility Allele [DOI]
  114. 114 CTLA4 gene polymorphism and autoimmunity [DOI]
  115. 115 IL2RA Genetic Heterogeneity in Multiple Sclerosis and Type 1 Diabetes Susceptibility and Soluble Interleukin-2 Receptor Production [DOI]
  116. 116 PTPN22 Genetic Variation: Evidence for Multiple Variants Associated with Rheumatoid Arthritis [DOI]
  117. 117 Genetic Susceptibility to Autoimmune Thyroid Disease: Past, Present, and Future [DOI]
  118. 118 Autoimmune Thyroid Disease [DOI]
  119. 119 Multiple SNPs in Intron 7 of Thyrotropin Receptor Are Associated with Graves’ Disease [DOI]
  120. 120 Regulatory T cells and autoimmune disease [DOI]
  121. 121 Mapping the Major Susceptibility Loci for Familial Graves’ and Hashimoto’s Diseases: Evidence for Genetic Heterogeneity and Gene Interactions1 [DOI]
  122. 122 Arginine at position 74 of the HLA-DR β1 chain is associated with Graves' disease [DOI]
  123. 123 Regression Mapping of Association between the Human Leukocyte Antigen Region and Graves Disease [DOI]
  124. 124 Association ofPTPN22Haplotypes with Graves’ Disease [DOI]
  125. 125 Molecular amino acid signatures in the MHC class II peptide-binding pocket predispose to autoimmune thyroiditis in humans and in mice [DOI]
  126. 126 Ethnogenetic heterogeneity of rheumatoid arthritis—implications for pathogenesis [DOI]
  127. 127 Analysis of the Fc Receptor-Like-3 (FCRL3) Locus in Caucasians with Autoimmune Disorders Suggests a Complex Pattern of Disease Association [DOI]
  128. 128 Is FCRL3 a New General Autoimmunity Gene? [DOI]
  129. 129 CD8+CD122+ T Cells, a Newly Identified Regulatory T Subset, Negatively Regulate Graves’ Hyperthyroidism in a Murine Model [DOI]
  130. 130 CD4+CD25+ naturally occurring regulatory T cells and not lymphopenia play a role in the pathogenesis of iodide-induced autoimmune thyroiditis in NOD-H2h4 mice [DOI]
  131. 131 Association of a C/T Single-Nucleotide Polymorphism in the 5' Untranslated Region of the CD40 Gene with Graves' Disease in Japanese [DOI]
  132. 132 Lymphoid tyrosine phosphatase and autoimmunity: human genetics rediscovers tyrosine phosphatases [DOI]
  133. 133 Thyroid Stimulating Hormone Receptor (TSHR) Intron 1 Variants Are Major Risk Factors for Graves' Disease in Three European Caucasian Cohorts [DOI]
  134. 134 CTLA‐4 promoter variants in patients with Graves' disease and Hashimoto's thyroiditis [DOI]
  135. 135 Soluble interleukin-2 receptor in cancer [DOI]
  136. 136 Confirmation of Association of Chromosome 5q31–33 with United Kingdom Caucasian Graves' Disease [DOI]
  137. 137 Cloning, chromosomal assignment, and regulation of the rat thyrotropin receptor: expression of the gene is regulated by thyrotropin, agents that increase cAMP levels, and thyroid autoantibodies. [DOI]
  138. 138 A New Graves Disease–Susceptibility Locus Maps To Chromosome 20q11.2 [DOI]
  139. 139 A Polymorphism in the Extracellular Domain of the Thyrotropin Receptor Is Highly Associated with Autoimmune Thyroid Disease in Females [DOI]
  140. 140 Genetic Factors in Autoimmune Thyroid Disease Analyzed by Restriction Fragment Length Polymorphisms of Candidate Genes* [DOI]
  141. 141 Association of HLA‐DQA1*0501 with Graves’ disease in English Caucasian men and women [DOI]
  142. 142 Genome-Wide Scan of Graves’ Disease: Evidence for Linkage on Chromosome 5q31 in Chinese Han Pedigrees [DOI]
  143. 143 Association between a C/T Polymorphism in Exon 33 of the Thyroglobulin Gene Is Associated with Relapse of Graves’ Hyperthyroidism after Antithyroid Withdrawal in Taiwanese [DOI]
  144. 144 Association of CTLA-4 gene polymorphism with Graves' disease and ophthalmopathy in Iranian patients [DOI]
  145. 145 Changes of regulatory T cells in Graves’ disease [DOI]
  146. 146 No Association between a Thyrotropin Receptor Gene Polymorphism and Graves' Disease in the Female Population [DOI]
  147. 147 The −112G > A polymorphism of the secretoglobin 3A2 (SCGB3A2) gene encoding uteroglobin-related protein 1 (UGRP1) increases risk for the development of Graves’ disease in subsets of patients with elevated levels of immunoglobulin E [DOI]
  148. 148 Analysis of Mutations in Exon 1 of the Human Thyrotropin Receptor Gene: High Frequency of the D36H and P52T Polymorphic Variants [DOI]
  149. 149 Multiple Messenger Ribonucleic Acid Transcripts and Revised Gene Organization of the Human TSH Receptor. [DOI]
  150. 150 Recognition of altered self major histocompatibility complex molecules modulated by specific peptide interactions [DOI]
  151. 151 Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls [DOI]
  152. 152 Recurring Mutations Found by Sequencing an Acute Myeloid Leukemia Genome [DOI]
  153. 153 Whole-Genome Sequencing in a Patient with Charcot–Marie–Tooth Neuropathy [DOI]
  154. 154 Analysis of Families in the Multiple Autoimmune Disease Genetics Consortium (MADGC) Collection: the PTPN22 620W Allele Associates with Multiple Autoimmune Phenotypes [DOI]
  155. 155 Genome-wide association study identifies new multiple sclerosis susceptibility loci on chromosomes 12 and 20 [DOI]
  156. 156 A map of human genome variation from population-scale sequencing [DOI]
  157. 157 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 [DOI]
  158. 158 The Codon 620 Tryptophan Allele of the Lymphoid Tyrosine Phosphatase (LYP) Gene Is a Major Determinant of Graves’ Disease [DOI]
  159. 159 Searching for the Autoimmune Thyroid Disease Susceptibility Genes: From Gene Mapping to Gene Function [DOI]
  160. 160 Genetic Variation in PTPN22 Corresponds to Altered Function of T and B Lymphocytes [DOI]
  161. 161 The CD28 family: a T-cell rheostat for therapeutic control of T-cell activation [DOI]
  162. 162 The PTPN22 C1858T functional polymorphism and autoimmune diseases--a meta-analysis [DOI]
  163. 163 A Graves’ Disease-Associated Kozak Sequence Single-Nucleotide Polymorphism Enhances the Efficiency of CD40 Gene Translation: A Case for Translational Pathophysiology [DOI]
  164. 164 A C/T Single-Nucleotide Polymorphism in the Region of the CD40 Gene is Associated with Graves' Disease [DOI]
  165. 165 The thyrotropin receptor autoantigen in Graves disease is the culprit as well as the victim [DOI]
  166. 166 Cutting Edge: The PTPN22 Allelic Variant Associated with Autoimmunity Impairs B Cell Signaling [DOI]
  167. 167 Soluble IL-2RA Levels in Multiple Sclerosis Subjects and the Effect of Soluble IL-2RA on Immune Responses [DOI]
  168. 168 Identification of susceptibility loci for autoimmune thyroid disease to 5q31-q33 and Hashimoto's thyroiditis to 8q23-q24 by multipoint affected sib-pair linkage analysis in Japanese [DOI]
  169. 169 Prospective multicentre study on the prediction of relapse after antithyroid drug treatment in patients with Graves' disease [DOI]
  170. 170 Helper T cell IL-2 production is limited by negative feedback and STAT-dependent cytokine signals [DOI]
  171. 171 The thymus and central tolerance [DOI]
  172. 172 Regulation of Graves’ Hyperthyroidism with Naturally Occurring CD4+CD25+ Regulatory T Cells in a Mouse Model [DOI]
  173. 173 Clinical associations of the genetic variants of CTLA‐4, Tg, TSHR, PTPN22, PTPN12 and FCRL3 in patients with Graves’ disease [DOI]
  174. 174 A Haplotype-Based Analysis of the PTPN22 Locus in Type 1 Diabetes [DOI]
  175. 175 Thyroid Autoimmunity and Environment [DOI]
  176. 176 Functional SNPs in the SCGB3A2 promoter are associated with susceptibility to Graves' disease [DOI]
  177. 177 Linkage Disequilibrium between the Human Leukocyte Antigen Class II Region of the Major Histocompatibility Complex and Graves’ Disease: Replication Using a Population Case Control and Family-Based Study1 [DOI]
  178. 178 The influence of human leucocyte antigen (HLA) genes on autoimmune thyroid disease (AITD): results of studies in HLA‐DR3 positive AITD families [DOI]
  179. 179 A Genome-Wide Screen in 1119 Relative Pairs with Autoimmune Thyroid Disease [DOI]
  180. 180 A C/T Polymorphism in the 5′-Untranslated Region of the CD40 Gene is Associated with Graves' Disease in Koreans [DOI]
  181. 181 Association of the Cytotoxic T Lymphocyte-Associated Antigen 4 Gene with Type 1 Diabetes: Evidence for Independent Effects of Two Polymorphisms on the Same Haplotype Block [DOI]
  182. 182 Association Analysis of CD40 Polymorphisms with Asthma and the Level of Serum Total IgE [DOI]
  183. 183 Detection of CD40 on Human Thyroid Follicular Cells: Analysis of Expression and Function1 [DOI]
  184. 184 The Influence of the Exon 1 Polymorphism of the Cytotoxic T Lymphocyte Antigen 4 Gene on Thyroid Antibody Production in Patients with Newly Diagnosed Graves' Disease [DOI]
  185. 185 Association of Graves' Disease with Intragenic Polymorphism of the Thyrotropin Receptor Gene in a Cohort of Singapore Patients of Multi-Ethnic Origins [DOI]
  186. 186 A Germline Single Nucleotide Polymorphism at the Intracellular Domain of the Human Thyrotropin Receptor Does Not Have a Major Effect on the Development of Graves' Disease [DOI]
  187. 187 Association of IL2RA and IL2RB with rheumatoid arthritis: a replication study in a Dutch population [DOI]
  188. 188 Tg.2098 is a major human thyroglobulin T-cell epitope [DOI]
  189. 189 Complex Association Analysis of Graves Disease Using a Set of Polymorphic Markers [DOI]
  190. 190 Association of tumor necrosis factor and human leukocyte antigen DRB1 alleles with Graves' ophthalmopathy [DOI]
  191. 191 Association study between the IL4, IL13, IRF1 and UGRP1 genes in chromosomal 5q31 region and Chinese Graves’ disease [DOI]
  192. 192 PTPN22 allele polymorphisms in 15 Chinese populations [DOI]
  193. 193 CAATT/Enhancer-binding Proteins α and δ Interact with NKX2-1 to Synergistically Activate Mouse Secretoglobin 3A2 Gene Expression [DOI]
  194. 194 CTLA-4 and autoimmune thyroid disease: lack of influence of the A49G signal peptide polymorphism on functional recombinant human CTLA-4 [DOI]
  195. 195 Plasma UGRP1 Levels Associate with Promoter G-112A Polymorphism and the Severity of Asthma [DOI]
  196. 196 Analysis of the thyrotropin receptor as a candidate gene in familial Graves' disease. [DOI]
  197. 197 Autoimmune Thyroid Disease Genes Come in Many Styles and Colors1 [DOI]
  198. 198 Serum cytokine levels in autoimmune and non-autoimmune hyperthyroid states [DOI]
  199. 199 Single-step capture and sequencing of natural DNA for detection of BRCA1 mutations [DOI]
  200. 200 Modulation of the IL-2 production defectin vitroin Graves'disease [DOI]
  201. 201 A map of human genome variation from population-scale sequencing [DOI]
  202. 202 A haplotype map of the human genome [DOI]
  203. 203 The CD40 Antigen and its Ligand [DOI]
  204. 204 CTLA-4 ligation blocks CD28-dependent T cell activation. [DOI]
  205. 205 Cooperative Inhibition of T-Cell Antigen Receptor Signaling by a Complex between a Kinase and a Phosphatase [DOI]
  206. 206 A functional variant in FCRL3, encoding Fc receptor-like 3, is associated with rheumatoid arthritis and several autoimmunities [DOI]
  207. 207 Fc Receptor-Like Molecules [DOI]
  208. 208 The thyrotropin receptor autoantigen in Graves disease is the culprit as well as the victim [DOI]
  209. 209 Evidence for a Major Role of Heredity in Graves' Disease: A Population-Based Study of Two Danish Twin Cohorts [DOI]
  210. 210 CTLA-4 and its role in autoimmune thyroid disease [DOI]
  211. 211 Impairment of Regulatory Capacity of CD4+CD25+ Regulatory T Cells Mediated by Dendritic Cell Polarization and Hyperthyroidism in Graves’ Disease [DOI]
  212. 212 Association of the thyroid stimulating hormone receptor gene (TSHR) with Graves' disease [DOI]
  213. 213 Critical Role of MARCO in Crystalline Silica–Induced Pulmonary Inflammation [DOI]
  214. 214 CTLA4 Alanine-17 Confers Genetic Susceptibility to Graves' Disease and to Type 1 Diabetes Mellitus [DOI]
  215. 215 The cytotoxic T lymphocyte antigen-4 is a major Graves' disease locus [DOI]
  216. 216 CTLA-4 gene polymorphism associated with Graves' disease in a Caucasian population [DOI]
  217. 217 Association of the TSHR gene with Graves' disease: the first disease specific locus [DOI]
  218. 218 The Link between Graves’ Disease and Hashimoto’s Thyroiditis: A Role for Regulatory T Cells [DOI]
  219. 219 Linkage proof for PTPN22 , a rheumatoid arthritis susceptibility gene and a human autoimmunity gene [DOI]
  220. 220 Polymorphism in the Promoter and Exon 1 of the Cytotoxic T Lymphocyte Antigen-4 Gene Associated with Autoimmune Thyroid Disease in Koreans [DOI]
  221. 221 Genetic association studies of the FOXP3 gene in Graves’ disease and autoimmune Addison’s disease in the United Kingdom population [DOI]
  222. 222 Non-governmental Organizations [DOI]
  223. 223 The Development of Graves’ Disease and theCTLA-4Gene on Chromosome 2q331 [DOI]
  224. 224 CTLA-4 and Not CD28 Is a Susceptibility Gene for Thyroid Autoantibody Production [DOI]
  225. 225 The Development of Graves' Disease and the CTLA-4 Gene on Chromosome 2q33 [DOI]
  226. 226 CT60 genotype does not affect CTLA-4 isoform expression despite association to T1D and AITD in northern Sweden [DOI]
  227. 227 Thyroglobulin Is a Thyroid Specific Gene for the Familial Autoimmune Thyroid Diseases [DOI]
  228. 228 Genetics of Endometriosis: A Review of the Positional Cloning Approaches [DOI]
  229. 229 A C/T Polymorphism in the 5' Untranslated Region of the CD40 Gene Is Associated with Later Onset of Graves' Disease in Japanese [DOI]
  230. 230 Detection of CD40 on Human Thyroid Follicular Cells: Analysis of Expression and Function [DOI]
  231. 231 Autoimmune thyroid disease in childhood: a study of children and their families.
  232. 232 The CD40 Antigen and Its Ligand [DOI]
  233. 233 Role of the CD40 Locus in Graves' Disease [DOI]
  234. 234 HLA-DRB108, DRB103/DRB30101, and DRB30202 Are Susceptibility Genes for Graves' Disease in North American Caucasians, Whereas DRB107 Is Protective [DOI]
  235. 235 Urban Services in Developing Countries [DOI]
  236. 236 Further studies of genetic susceptibility to Graves' disease in a Russian population.
  237. 237 IMMUNOGENETICS OF GRAVES' OPHTHALMOPATHY [DOI]
  238. 238 HLA-A, -B, -C and -DR antigens in patients with Graves' disease and their correlation with signs and clinical course [DOI]
  239. 239 The thymus and central tolerance.
  240. 240 DIFFERENTIATION OF AUTOIMMUNE OPHTHALMOPATHY FROM GRAVES’HYPERTHYROIDISM BY ANALYSIS OF GENETIC MARKERS [DOI]
  241. 241 Thyrotropin Receptor Polymorphisms and Thyroid Diseases [DOI]
  242. 242 Autoimmune Thyroid Disease Genes Come in Many Styles and Colors [DOI]
  243. 243 RENTAL HOUSING IN DEVELOPING COUNTRIES: ISSUES AND CONSTRAINTS
  244. 244 The Genetics of Autoimmune Thyroid Disease [DOI]
  245. 245 Co-operative housing
  246. 246 3. The Urban Housing Market [DOI]
  247. 247 4. The Collapse of the Welfare Consensus? The Welfare State in the 1980s [DOI]
  248. 248 Self-Help
  249. 249 Community-Based Organizations [DOI]
  250. 250 8. The Municipal Role in Housing the Homeless and Poor [DOI]
  251. 251 Analysis of Human Genetic Linkage [DOI]
  252. 252 Mapping the Major Susceptibility Loci for Familial Graves' and Hashimoto's Diseases: Evidence for Genetic Heterogeneity and Gene Interactions [DOI]
  253. 253 Human histocompatibility leukocyte antigen-DQA1*0501 allele associated with genetic susceptibility to Graves' disease in a Caucasian population [DOI]
  254. 254 A soluble form of CTLA-4 generated by alternative splicing is expressed by nonstimulated human T cells [DOI]
  255. 255 Linkage Disequilibrium between the Human Leukocyte Antigen Class II Region of the Major Histocompatibility Complex and Graves' Disease: Replication Using a Population Case Control and Family-Based Study [DOI]
  256. 256 DIFFERENTIATION OF AUTOIMMUNE OPHTHALMOPATHY FROM GRAVES’ HYPERTHYROIDISM BY ANALYSIS OF GENETIC MARKERS [DOI]
  257. 257 IMMUNOGENETICS OF GRAVES’ OPHTHALMOPATHY [DOI]

Cited by 6

Replication of association of nine susceptibility loci with Graves' disease in the Chinese Han population.

W. Du, Cui-Ge Liang, Feng-Yuan Che · International Journal of Clinical and Experimental Medicine · 2014

Robust evidence for five new Graves' disease risk loci from a staged genome-wide association analysis.

Shuang-Xia Zhao, Li-qiong Xue, Wei Liu · Human Molecular Genetics · 2013

Dense mapping of IL2RA shows no association with Graves' disease in Chinese Han population

Zhi-Yi Song, Wei Liu, Li-qiong Xue · Clinical Endocrinology · 2013

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