Genetic-epigenetic dysregulation of thymic TSH receptor gene expression triggers thyroid autoimmunity

Proceedings of the National Academy of Sciences of the United States of America

Volumn 111, Issue 34, 2014, Pages 12562-12567

  Stefan, Mihaela ^a,b   Wei, Chengguo ^a   Lombardi, Angela ^a   Li, Cheuk Wun ^a   Concepcion, Erlinda S ^a   Inabnet III, William B ^a   Owen, Randall ^a   Zhang, Weijia ^a   Tomer, Yaron ^a,b  

^a MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^b VETERANS AFFAIRS MEDICAL CENTER   (United States)

Author keywords

Histone modifications; Interferon; Thyroiditis

Indexed keywords

ALPHA INTERFERON; HISTONE H3; LYSINE; MESSENGER RNA; PROMYELOCYTIC LEUKEMIA PROTEIN; THYROTROPIN RECEPTOR; HISTONE; KRUPPEL LIKE FACTOR; ZBTB16 PROTEIN, HUMAN;

ADAPTIVE IMMUNITY; ALLELE; ANTIGEN EXPRESSION; ARTICLE; AUTOIMMUNITY; CHROMATIN ASSEMBLY AND DISASSEMBLY; DISEASE PREDISPOSITION; DNA MODIFICATION; DOWN REGULATION; EPIGENETICS; GENE EXPRESSION; GENE EXPRESSION REGULATION; GENE INTERACTION; GENE LINKAGE DISEQUILIBRIUM; GENE REPRESSION; GENETICS; GENOTYPE; GRAVES DISEASE; HISTONE METHYLATION; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; IMMUNOLOGICAL TOLERANCE; INNATE IMMUNITY; INTRON; MICROENVIRONMENT; PRIORITY JOURNAL; PROMOTER REGION; RECEPTOR GENE; SINGLE NUCLEOTIDE POLYMORPHISM; THYROID CELL; THYROID GLAND; TRANSCRIPTION INITIATION SITE; BINDING SITE; CELL LINE; CHEMISTRY; GENETIC EPIGENESIS; GENOTYPE ENVIRONMENT INTERACTION; IMMUNOLOGY; METABOLISM; METHYLATION; THYMUS;

AUTOIMMUNITY; BINDING SITES; CELL LINE; EPIGENESIS, GENETIC; GENE EXPRESSION REGULATION; GENE-ENVIRONMENT INTERACTION; GRAVES DISEASE; HISTONES; HUMANS; INTERFERON-ALPHA; INTRONS; KRUPPEL-LIKE TRANSCRIPTION FACTORS; METHYLATION; POLYMORPHISM, SINGLE NUCLEOTIDE; PROMOTER REGIONS, GENETIC; RECEPTORS, THYROTROPIN; RNA, MESSENGER; THYMUS GLAND; THYROID GLAND;

EID: 84906706946     PISSN: 00278424     EISSN: 10916490     Source Type: Journal    
DOI: 10.1073/pnas.1408821111     Document Type: Article

References (36)

1. Menconi F, Oppenheim YL, Tomer Y (2008) Graves' disease. Diagnostic Criteria in Autoimmune Diseases, eds Shoenfeld Y, Cervera R, Gershwin ME (Humana, Totowa, NJ), pp 231-235.
2. Tomer Y, Huber A (2009) The etiology of autoimmune thyroid disease: A story of genes and environment. J Autoimmun 32(3-4):231-239.
3. Brand OJ, et al. (2009) Association of the thyroid stimulating hormone receptor gene (TSHR) with Graves' disease. Hum Mol Genet 18(9):1704-1713.
4. Litherland SA (2008) Immunopathogenic interaction of environmental triggers and genetic susceptibility in diabetes: Is epigenetics the missing link? Diabetes 57(12):3184-3186.
5. Zaina S, Pérez-Luque EL, Lund G (2010) Genetics talks to epigenetics? The interplay between sequence variants and chromatin structure. Curr Genomics 11(5):359-367.
6. Stefan M, et al. (2011) Novel variant of thyroglobulin promoter triggers thyroid autoimmunity through an epigenetic interferon alpha-modulated mechanism. J Biol Chem 286(36):31168-31179.
7. Tomer Y, Menconi F (2009) Interferon induced thyroiditis. Best Pract Res Clin Endocrinol Metab 23(6):703-712.
8. Chu X, et al.; China Consortium for Genetics of Autoimmune Thyroid Disease (2011) A genome-wide association study identifies two new risk loci for Graves' disease. Nat Genet 43(9):897-901.
9. Płoski R, et al. (2010) Thyroid stimulating hormone receptor (TSHR) intron 1 variants are major risk factors for Graves' disease in three European Caucasian cohorts. PLoS ONE 5(11):e15512.
10. Tomer Y, et al. (2013) Fine mapping of loci linked to autoimmune thyroid disease identifies novel susceptibility genes. J Clin Endocrinol Metab 98(1):E144-E152.
11. Dechairo BM, et al. (2005) Association of the TSHR gene with Graves' disease: The first disease specific locus. Eur J Hum Genet 13(11):1223-1230.
12. Cartharius K, et al. (2005) MatInspector and beyond: Promoter analysis based on transcription factor binding sites. Bioinformatics 21(13):2933-2942. (Pubitemid 40916416)
13. Barna M, et al. (2002) Plzf mediates transcriptional repression of HoxD gene expression through chromatin remodeling. Dev Cell 3(4):499-510. (Pubitemid 35256063)
14. Kilpinen H, et al. (2013) Coordinated effects of sequence variation on DNA binding, chromatin structure, and transcription. Science 342(6159):744-747.
15. McVicker G, et al. (2013) Identification of genetic variants that affect histone modifications in human cells. Science 342(6159):747-749.
16. Kasowski M, et al. (2013) Extensive variation in chromatin states across humans. Science 342(6159):750-752.
17. Akeno N, et al. (2011) IFN-α mediates the development of autoimmunity both by direct tissue toxicity and through immune cell recruitment mechanisms. J Immunol 186(8):4693-4706.
18. Devendra D, Eisenbarth GS (2004) Interferon alpha - A potential link in the pathogenesis of viral-induced type 1 diabetes and autoimmunity. Clin Immunol 111(3):225-233. (Pubitemid 38739316)
19. Hasham A, et al. (2013) Genetic analysis of interferon induced thyroiditis (IIT): Evidence for a key role for MHC and apoptosis related genes and pathways. J Autoimmun 44:61-70.
20. Niewold TB (2011) Interferon alpha as a primary pathogenic factor in human lupus. J Interferon Cytokine Res 31(12):887-892.
21. Mandac JC, Chaudhry S, Sherman KE, Tomer Y (2006) The clinical and physiological spectrum of interferon-alpha induced thyroiditis: Toward a new classification. Hepatology 43(4):661-672.
22. El-Osta A, et al. (2008) Transient high glucose causes persistent epigenetic changes and altered gene expression during subsequent normoglycemia. J Exp Med 205(10):2409-2417.
23. Miao F, et al. (2007) Genome-wide analysis of histone lysine methylation variations caused by diabetic conditions in human monocytes. J Biol Chem 282(18):13854-13863. (Pubitemid 47100501)
24. Gerasimova A, et al. (2013) Predicting cell types and genetic variations contributing to disease by combining GWAS and epigenetic data. PLoS ONE 8(1):e54359.
25. Suliman BA, Xu D, Williams BR (2012) The promyelocytic leukemia zinc finger protein: Two decades of molecular oncology. Front Oncol 2:74.
26. Xu D, et al. (2009) Promyelocytic leukemia zinc finger protein regulates interferon-mediated innate immunity. Immunity 30(6):802-816.
27. Koken MH, et al. (1997) Leukemia-associated retinoic acid receptor alpha fusion partners, PML and PLZF, heterodimerize and colocalize to nuclear bodies. Proc Natl Acad Sci USA 94(19):10255-10260.
28. Spitz F, Furlong EE (2012) Transcription factors: From enhancer binding to developmental control. Nat Rev Genet 13(9):613-626.
29. Giraud M, et al. (2007) An IRF8-binding promoter variant and AIRE control CHRNA1 promiscuous expression in thymus. Nature 448(7156):934-937. (Pubitemid 47312776)
30. Davison LJ, et al.; Cardiogenics Consortium (2012) Long-range DNA looping and gene expression analyses identify DEXI as an autoimmune disease candidate gene. Hum Mol Genet 21(2):322-333.
31. Colobran R, et al. (2011) Association of an SNP with intrathymic transcription of TSHR and Graves' disease: A role for defective thymic tolerance. Hum Mol Genet 20(17):3415-3423.
32. Pichurin PN, et al. (2004) Thyrotropin receptor knockout mice: Studies on immunological tolerance to a major thyroid autoantigen. Endocrinology 145(3):1294-1301. (Pubitemid 38281012)
33. Vidalain PO, et al. (2002) Interferons mediate terminal differentiation of human cortical thymic epithelial cells. J Virol 76(13):6415-6424.
34. Brilot F, Geenen V, Hober D, Stoddart CA (2004) Coxsackievirus B4 infection of human fetal thymus cells. J Virol 78(18):9854-9861. (Pubitemid 39187105)
35. Beq S, et al. (2012) Altered thymic function during interferon therapy in HCV-infected patients. PLoS ONE 7(4):e34326.
36. Furey TS, Sethupathy P (2013) Genetics driving epigenetics. Science 342(6159):705-706. Diseases Diseases Diseases