Autoimmune diseases in a Danish cohort of 4,866 carriers of constitutional structural chromosomal rearrangements

Arthritis and Rheumatism

Volumn 56, Issue 7, 2007, Pages 2402-2409

  Bache, Iben ^a   Nielsen, Nete M ^b   Rostgaard, Klaus ^b   Tommerup, Niels ^a   Frisch, Morten ^b  

^a UNIVERSITY OF COPENHAGEN   (Denmark)

^b STATENS SERUM INSTITUT   (Denmark)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; AUTOIMMUNE DISEASE; CHROMOSOME 11; CHROMOSOME 18P; CHROMOSOME 18Q; CHROMOSOME 19; CHROMOSOME 2; CHROMOSOME 21; CHROMOSOME 22Q; CHROMOSOME 5; CHROMOSOME DELETION; CHROMOSOME REARRANGEMENT; COHORT ANALYSIS; CONSTITUTIONAL STRUCTURAL CHROMOSOME REARRANGEMENT; CONTROLLED STUDY; DENMARK; DUPUYTREN CONTRACTURE; FEMALE; FOLLOW UP; GENE LOCUS; GENETIC SUSCEPTIBILITY; HETEROZYGOTE; HUMAN; JUVENILE RHEUMATOID ARTHRITIS; MAJOR CLINICAL STUDY; MALE; PERNICIOUS ANEMIA; PRIORITY JOURNAL; REGISTER; RISK ASSESSMENT;

AUTOIMMUNE DISEASES; CHROMOSOME ABERRATIONS; CHROMOSOMES, HUMAN; COHORT STUDIES; DENMARK; FEMALE; FOLLOW-UP STUDIES; GENE REARRANGEMENT; HUMANS; MALE;

EID: 34547445670     PISSN: 00043591     EISSN: None     Source Type: Journal    
DOI: 10.1002/art.22652     Document Type: Article

References (23)

1. Serrano NC, Millan P, Paez MC. Non-HLA associations with autoimmune diseases [review]. Autoimmun Rev 2006;53:209-14.
2. Criswell LA, Pfeiffer KA, Lum RF, Gonzales B, Novitzke J, Kern M, et al. Analysis of families in the multiple autoimmune disease genetics consortium (MADGC) collection: the PTPN22 620W allele associates with multiple autoimmune phenotypes. Am J Hum Genet 2005;76:561-71.
3. Tommerup N. Mendelian cytogenetics: chromosome rearrangements associated with mendelian disorders [review]. J Med Genet 1993;30:713-27.
4. Czako M, Riegel M, Morava E, Schinzel A, Kosztolanyi G. Patient with rheumatoid arthritis and MCA/MR syndrome due to unbalanced der(18) transmission of a paternal translocation t(18; 20)(p11.1;p11.1). Am J Med Genet 2002;108:226-8.
5. Rosen P, Hopkin RJ, Glass DN, Graham TB. Another patient with chromosome 18 deletion syndrome and juvenile rheumatoid arthritis. J Rheumatol 2004;31:998-1000.
6. Pelkonen P, Lahdenne P, Lantto R, Honkanen V. Chronic arthritis associated with chromosome deletion 22q11.2 syndrome. J Rheumatol 2002;29:2648-50.
7. Zhuang H, Kosboth M, Lee P, Rice A, Driscoll DJ, Zori R, et al. Lupus-like disease and high interferon levels corresponding to trisomy of the type I interferon cluster on chromosome 9p. Arthritis Rheum 2006;54:1573-9.
8. Nicodeme F, Geffroy S, Conti M, Delobel B, Soenen V, Grardel N, et al. Familial occurrence of thymoma and autoimmune diseases with the constitutional translocation t(14;20)(q24.1;p12.3). Genes Chromosomes Cancer 2005;44:154-60.
9. Nielsen J. The Danish Cytogenetic Central Register: organization and results. Topics in Human Genetics 1980;5:1-86.
10. Pedersen CB, Gotzsche H, Moller JO, Mortensen PB. The Danish Civil Registration System: a cohort of eight million persons. Dan Med Bull 2006;53:441-9.
11. Shaffer LG, Tommerup N, editors. An international system for human cytogenetic nomenclature, 2nd ed. Basel: S. Karger; 2005.
12. Gardner RJ, Sutherland GR. Chromosome abnormalities and genetic counseling, 3rd ed. New York: Oxford University Press; 2004.
13. Haynes BF, Fauci AS. Introduction to the immune system. In: Fauci AS, Braunwald E, Isselbacher KJ, Wilson JD, Martin JB, Kasper DL, et al, editors. Harrison's principles of internal medicine, 14th ed. New York: McGraw-Hill, Health Profession Division; 1998. p. 1753-76.
14. Lipsky PE, Diamond B. Autoimmunity and autoimmune diseases. In: Braunwald E, Fauci AS, Kasper DL, Hauser SL, Longo DL, Jameson JL, editors. Harrison's principles of internal medicine, 15th ed. New York: McGraw-Hill; 2001. p. 1839-43.
15. Lindqvist AK, Steinsson K, Johanneson B, Kristjansdottir H, Arnasson A, Grondal G, et al. A susceptibility locus for human systemic lupus erythematosus (hSLE1) on chromosome 2q. J Autoimmun 2000;14:169-78.
16. Concannon P, Erlich HA, Julier C, Morahan G, Nerup J, Pociot F, et al. Type 1 diabetes: evidence for susceptibility loci from four genome-wide linkage scans in 1,435 multiplex families. Diabetes 2005;54:2995-3001.
17. Rioux JD, Silverberg MS, Daly MJ, Steinhart AH, McLeod RS, Griffiths AM, et al. Genomewide search in Canadian families with inflammatory bowel disease reveals two novel susceptibility loci. Am J Hum Genet 2000;66:1863-70.
18. Jawad AF, Donald-Mcginn DM, Zackai E, Sullivan KE. Immunologic features of chromosome 22q11.2 deletion syndrome (Di-George syndrome/velocardiofacial syndrome). J Pediatr 2001;139: 715-23.
19. Burge P. Genetics of Dupuytren's disease [review]. Hand Clin 1999;15:63-71.
20. Casalone R, Mazzola D, Meroni E, Righi R, Minelli E, Granata P, et al. Cytogenetic and interphase cytogenetic analyses reveal chromosome instability but no clonal trisomy 8 in Dupuytren contracture. Cancer Genet Cytogenet 1997;99:73-6.
21. Meyer T, Alber B, Roemer K, Martin T, Kalscheuer VM, Gottert E, et al. High rate of constitutional chromosomal rearrangements in apparently sporadic ALS. Neurology 2003;60:1348-50.
22. Bache I, Hjorth M, Bugge M, Holstebroe S, Hilden J, Schmidt L, et al. Systematic re-examination of carriers of balanced reciprocal translocations: a strategy to search for candidate regions for common and complex diseases. Eur J Hum Genet 2006;14:410-7.
23. Pedersen M, Klarlund M, Jacobsen S, Svendsen AJ, Frisch M. Validity of rheumatoid arthritis diagnoses in the Danish National Patient Registry. Eur J Epidemiol 2004;19:1097-103.