No significant association between mutations in exons 6 and 8 of the autoimmune regulator (AIRE) gene and inflammatory bowel disease

European Journal of Immunogenetics

Volumn 31, Issue 2, 2004, Pages 83-86

  Torok H P ^a   Tonenchi, L ^a   Glas, J ^a   Schiemann, U ^a   Folwaczny, C ^a,b  

^a LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^b UNIVERSITY OF MUNICH   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

AUTOANTIBODY; TRANSCRIPTION FACTOR;

ADOLESCENT; ADULT; AGED; ARTICLE; AUTOIMMUNE DISEASE; AUTOIMMUNE REGULATOR GENE; CONTROLLED STUDY; DISEASE ASSOCIATION; DISEASE PREDISPOSITION; ENTERITIS; EXON; FEMALE; GENE; GENE CONTROL; GENE MUTATION; HUMAN; IMMUNOLOGICAL TOLERANCE; MAJOR CLINICAL STUDY; MALE; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL;

ADOLESCENT; ADULT; AGED; BASE SEQUENCE; COLITIS, ULCERATIVE; CROHN DISEASE; EXONS; FEMALE; HUMANS; INFLAMMATORY BOWEL DISEASES; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION; POLYMORPHISM, GENETIC; TRANSCRIPTION FACTORS;

EID: 2342580077     PISSN: 09607420     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1365-2370.2004.00449.x     Document Type: Article

References (19)

1. Anderson, M.S., Venanzi, E.S., Klein, L., Chen, Z., Berzins, S.P., Turley, S.J., von Boehmer, H., Bronson, R., Dierich, A., Benoist, C. et al. (2002) Projection of an immunological self shadow within the thymus by the aire protein. Science, 298, 1395.
2. Bjorses, P., Pelto-Huikko, M., Kaukonen, J., Aaltonen, J., Peltonen, L. & Ulmanen, I. (1999) Localization of the APECED protein in distinct nuclear structures. Human Molecular Genetics, 8, 259.
3. Bjorses, P., Halonen, M., Palvimo, J.J., Kolmer, M., Aaltonen, J., Ellonen, P., Perheentupa, J., Ulmanen, I. & Peltonen, L. (2000) Mutations in the AIRE gene: effects on subcellular location and transactivation function of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy protein. American Journal of Human Genetics, 66, 378.
4. The Finnish-German APECED Consortium (1997) An autoimmune disease, APECED, caused by mutations in a novel gene featuring two PHD-type zinc-finger domains. Nature Genetics, 17, 399.
5. Folwaczny, C., Noehl, N., Endres, S.P., Heldwein, W., Loeschke, K. & Fricke, H. (1997a) Antinudear autoantibodies in patients with inflammatory bowel disease. High prevalence in first-degree relatives. Digestive Diseases and Sciences, 42, 1593.
6. Folwaczny, C., Noehl, N., Tschop, K., Endres, S.P., Heldwein, W., Loeschke, K. & Fricke, H. (1997b) Goblet cell autoantibodies in patients with inflammatory bowel disease and their first-degree relatives. Gastroenterology, 113, 101.
7. Folwaczny, C., Noehl, N., Endres, S.P., Loeschke, K. & Fricke, H. (1998) Antineutrophil and pancreatic autoantibodies in first-degree relatives of patients with inflammatory bowel disease. Scandinavian Journal of Gastroenterology, 33, 523.
8. Folwaczny, C., Loeschke, K., Schnettler, D., Jager, G., Wiebecke, B., Hoelscher, M., Sauer, T., Konig, A., Endres, S.P. & Fricke, H. (2000) Endothelial cell autoantibodies are a marker of disease susceptibility in inflammatory bowel disease but apparently not linked to persistent measles virus infection. Clinical Immunology, 95, 197.
9. Glas, J., Torok, H.P., Vilsmaier, F., Herbinger, K.H., Hoelscher, M. & Folwaczny, C. (2002) Anti-saccharomyces cerevisiae antibodies in patients with inflammatory bowel disease and their first-degree relatives: potential clinical value. Digestion, 66, 173.
10. Heino, M., Peterson, P., Kudoh, J., Nagamine, K., Lagerstedt, A., Ovod, V., Ranki, A., Rantala, I., Nieminen, M., Tuukkanen, J. et al. (1999a) Autoimmune regulator is expressed in the cells regulating immune tolerance in thymus medulla. Biochemistry and Biophysics Research Communications, 257, 821.
11. Heino, M., Scott, H.S., Chen, Q., Peterson, P., Maebpaa, U., Papasavvas, M.P., Mittaz, L., Barras, C., Rossier, C., Chrousos, G.P. et al. (1999b) Mutation analyses of North American APS-1 patients. Human Mutation, 13, 69.
12. Landers, C.J., Cohavy, O., Misra, R., Yang, H., Lin, Y.C., Braun, J. & Targan, S.R. (2002) Selected loss of tolerance evidenced by Crohn's disease-associated immune responses to auto- and microbial antigens. Gastroenterology, 123, 689.
13. Nithiyananthan, R., Heward, J.M., Allahabadia, A., Barnett, A.H., Franklyn, J.A. & Gough, S.C. (2000) A heterozygous deletion of the autoimmune regulator (AIRE1) gene, autoimmune thyroid disease, and type 1 diabetes: no evidence for association. Journal of Clinical Endocrinological Metabolism, 85, 1320.
14. Pearce, S.H., Cheetham, T., Imrie, H., Vaidya, B., Barnes, N.D., Bilous, R.W., Carr, D., Meeran, K., Shaw, N.J., Smith, C.S. et al. (1998) A common and recurrent 13-bp deletion in the autoimmune regulator gene in British kindreds with autoimmune polyendocrinopathy type 1. American Journal of Human Genetics, 63, 1675.
15. Rinderle, C., Christensen, H.M., Schweiger, S., Lehrach, H. & Yaspo, M.L. (1999) AIRE encodes a nuclear protein co-localizing with cytoskeletal filaments: altered sub-cellular distribution of mutants lacking the PHD zinc fingers. Human Molecular Genetics, 8, 277.
16. Scott, H.S., Heino, M., Peterson, P., Mittaz, L., Lalioti, M.D., Betterle, C., Cohen, A., Seri, M., Lerone, M., Romeo, G. et al. (1998) Common mutations in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients of different origins. Molecular Endocrinology, 12, 1112.
17. Sediva, A., Cihakova, D. & Lebl, J. (2002) Immunological findings in patients with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) and their family members: are heterozygotes subclinically affected? Journal of Pediatric Endocrinological Metabolism, 15, 1491.
18. Vaidya, B., Imrie, H., Geatch, D.R., Perros, P., Ball, S.G., Baylis, P.H., Carr, D., Hurel, S.J., James, R.A., Kelly, W.F. et al. (2000) Association analysis of the cytotoxic T lymphocyte antigen-4 (CTLA-4) and autoimmune regulator-1 (AIRE-1) genes in sporadic autoimmune Addison's disease. Journal of Clinical Endocrinological Metabolism, 85, 688.
19. Vogel, A., Liermann, H., Harms, A., Strassburg, C.P., Manns, M.P. & Obermayer-Straub, P. (2001) Autoimmune regulator AIRE: evidence for genetic differences between autoimmune hepatitis and hepatitis as part of the autoimmune polyglandular syndrome type 1. Hepatology, 33, 1047.