MICA4/HLA-DRB1*04/TNF1 haplotype is associated with mixed connective tissue disease in Swedish patients

Human Immunology

Volumn 64, Issue 2, 2003, Pages 290-296

  Hassan, Adla B ^a,b   Nikitina Zake, Liene ^b   Padyukov, Leonid ^a   Karlsson, Göran ^a   Gupta, Manu ^b   Lundberg, Ingrid E ^a   Sanjeevi, Carani B ^b  

^a KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^b KAROLINSKA INSTITUTE   (Sweden)

Author keywords

Haplotype; HLA; MCTD; MICA; TNF

Indexed keywords

HLA DR ANTIGEN; MAJOR HISTOCOMPATIBILITY ANTIGEN CLASS 1; TUMOR NECROSIS FACTOR ALPHA;

ADULT; AGED; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DNA POLYMORPHISM; FEMALE; GENE; GENE LOCUS; GENETIC ASSOCIATION; GENETIC SUSCEPTIBILITY; GENOTYPE; HAPLOTYPE; HUMAN; MAJOR HISTOCOMPATIBILITY COMPLEX; MAJOR HISTOCOMPATIBILITY COMPLEX CLASS 1 CHAIN RELATED GENE A; MALE; MIXED CONNECTIVE TISSUE DISEASE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RESTRICTION MAPPING; SWEDEN;

ADULT; AGED; ALLELES; AUTOIMMUNE DISEASES; EPITOPES; FEMALE; GENES, MHC CLASS II; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HAPLOTYPES; HISTOCOMPATIBILITY ANTIGENS CLASS I; HLA-DQ ANTIGENS; HLA-DR ANTIGENS; HUMANS; MALE; MICROSATELLITE REPEATS; MIDDLE AGED; MIXED CONNECTIVE TISSUE DISEASE; POLYMERASE CHAIN REACTION; RISK; SWEDEN; TUMOR NECROSIS FACTOR-ALPHA;

EID: 0037318425     PISSN: 01988859     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0198-8859(02)00776-0     Document Type: Article

References (30)

1. Sharp GC, Irvin WS, Tan EM, Gould RG, Holman HR: Mixed connective tissue disease - an apparently distinct rheumatic disease syndrome associated with a specific antibody to an extractable nuclear antigen (ENA). Am J Med 52:148, 1972.
2. Garlepp MJ: Immunogenetics of inflammatory myopathies. Baillieres Clin Neurol 2:579, 1993.
3. Hameenkorpi R, Ruuska P, Forsberg S, Tiilikainen R, Makitalo R, Hakala M: More evidence of distinctive features of mixed connective tissue disease. Scand J Rheumatol 22:63, 1993.
4. Gendi NS, Welsh KI, Van Venrooij WJ, Vancheeswaran R, Gilroy J, Black CM: HLA type as a predictor of mixed connective tissue disease differentiation: Ten-year clinical and immunogenetic followup of 46 patients. Arthritis Rheum 38:259, 1995.
5. Benazet JF, Reviron D, Mercier P, Roux H, Roudier J: HLA-DRB1 alleles associated with rheumatoid arthritis in southern France. Absence of extraarticular disease despite expression of the shared epitope. J Rheumatol 22:607, 1995.
6. Hameed K, Bowman S, Kondeatis E, Vaughan R, Gibson T: The association of HLA-DRB genes and the shared epitope with rheumatoid arthritis in Pakistan. Br J Rheumatol 36:1184-1184, 1997.
7. Reveille JD, Durban E, MacLeod-St Clair MJ, Goldstein R, Moreda R, Altman RD, Arnett FC: Association of amino acid sequences in the HLA-DQB1 first domain with antitopoisomerase I autoantibody response in scleroderma (progressive systemic sclerosis). J Clin Invest 90:973, 1992.
8. Reveille JD, Barger BO, Hodge TW: HLA-DR2-DRB1 allele frequencies in DR2-positive black Americans with and without systemic lupus erythematosus. Tissue Antigens 38:178, 1991.
9. Skarsvag S, Hansen KE, Hoist A, Moen T: Distribution of HLA class II alleles among Scandinavian patients with systemic lupus erythematosus (SLE): an increased risk of SLE among non[DRB1*03, DQA1*0501, DQB1*0201] class II homozygotes? Tissue Antigens 40:128, 1992.
10. Dong RP, Kimura A, Hashimoto H, Akizuki M, Nishimura Y, Sasazuki T: Difference in HLA-linked genetic background between mixed connective tissue disease and systemic lupus erythematosus. Tissue Antigens 41:20, 1993.
11. Hassan AB, Gunnarsson I, Karlsson G, Klareskog L, Forslid J, Lundberg IE: Longitudinal study of interleukin-10, tumor necrosis factor-alpha, anti-U1-snRNP antibody levels and disease activity in patients with mixed connective tissue disease. Scand J Rheumatol 30:282, 2001.
12. Wilson AG, Symons JA, McDowell TL, McDevitt HO, Duff GW: Effects of a polymorphism in the human tumor necrosis factor alpha promoter on transcriptional activation. Proc Natl Acad Sci USA 94:3195, 1997.
13. Pachman LM, Liotta-Davis MR, Hong DK, Kinsella TR, Mendez EP, Kinder JM, Chen EH: TNFalpha-308A allele in juvenile dermatomyositis: association with increased production of tumor necrosis factor alpha, disease duration, and pathologic calcifications. Arthritis Rheum 43:2368, 2000.
14. Pandey JP, Takeuchi F: TNF-alpha and TNF-beta gene polymorphisms in systemic sclerosis. Hum Immunol 60:1128, 1999.
15. Lacki JK, Moser R, Korczowska I, Mackiewicz S, Muller W: TNF-alpha gene polymorphism does not affect the clinical and radiological outcome of rheumatoid arthritis. Rheumatol Int 19:137, 2000.
16. Pociot F, Briant L, Jongeneel CV, Molvig J, Worsaae H, Abbal M, Thomsen M, Nerup J, Cambon-Thomsen A: Association of tumor necrosis factor (TNF) and class II major histocompatibility complex alleles with the secretion of TNF-alpha and TNF-beta by human mononuclear cells: a possible link to insulin-dependent diabetes mellitus. Eur J Immunol 23:224, 1993.
17. Crouau-Roy B, Briant L, Bouissou C, Stravropoulos C, Pociot F, Cambon-Thomsen A, Clayton J: Tumor necrosis factor microsatellites in four European populations. Hum Immunol 38:213, 1993.
18. Bahram S, Bresnahan M, Geraghty DE, Spies T: A second lineage of mammalian major histocompatibility complex class I genes. Proc Natl Acad Sci USA 91:6259, 1994.
19. Mizuki N, Inoko H, Ohno S: Pathogenic gene responsible for the predisposition of Behcet's disease. Int Rev Immunol 14:33, 1997.
20. Goto K, Ota M, Ohno S, Mizuki N, Ando H, Katsuyama Y, Maksymowych WP, Kimura M, Bahram S, Inoko H: MICA gene and ankylosing spondylitis: linkage analysis via a transmembrane-encoded triplet repeat polymorphism. Tissue Antigens 49:503, 1997.
21. Gambelunghe G, Falorni A, Ghaderi M, Laureti S, Tortoioli C, Santeusanio F, Brunetti P, Sanjeevi CB: Microsatellite polymorphism of the MHC class I chain-related (MIC-A and MIC-B) genes marks the risk for autoimmune Addison's disease. J Clin Endocrinol Metab 84:3701, 1999.
22. Gambelunghe G, Ghaderi M, Cosentino A, Falorni A, Brunetti P, Sanjeevi CB: Association of MHC Class I chain-related A (MIC-A) gene polymorphism with type I diabetes. Diabetologia 43:507, 2000.
23. Martinez A, Fernandez-Arquero M, Balsa A, Rubio A, Alves H, Pascual-Salcedo D, Martin-Mola E, de la Concha EG: Primary association of a MICA allele with protection against rheumatoid arthritis. Arthritis Rheum 44:1261, 2001.
24. Nikitina Zake L, Cimdina I, Rumba I, Dabadghao P, Sanjeevi CB: Major histocompatibility complex class I chain related (MIC) A gene, TNFa microsatellite alleles and TNFB alleles in juvenile idiopathic arthritis patients from Latvia. Hum Immunol 63:418, 2002.
25. Alarcon-Segovia D, Cardiel MH: Comparison between 3 diagnostic criteria for mixed connective tissue disease. Study of 593 patients. J Rheumatol 16:328, 1989.
26. Nedospasov SA, Udalova IA, Kuprash DV, Turetskaya RL: DNA sequence polymorphism at the human tumor necrosis factor (TNF) locus. Numerous TNF/lymphotoxin alleles tagged by two closely linked microsatellites in the upstream region of the lymphotoxin (TNF-beta) gene. J Immunol 147:1053, 1991.
27. Padyukov L, Hahn-Zoric M, Lau YL, Hanson LA: Different allelic frequencies of several cytokine genes in Hong Kong Chinese and Swedish Caucasians. Genes Immunol 2:280, 2001.
28. Ronningen KS, Markussen G, Iwe T, Thorsby E: An increased risk of insulin-dependent diabetes mellitus (IDDM) among HLA-DR4,DQw8/DRw8,DQw4 heterozygotes. Hum Immunol 24:165, 1989.
29. Wilson AG, de Vries N, Pociot F, di Giovine FS, van der Putte LB, Duff GW: An allelic polymorphism within the human tumor necrosis factor alpha promoter region is strongly associated with HLA A1, B8, and DR3 allele. J Exp Med 177:557, 1993.
30. Martinez A, Fernandez-Arquero M, Pascual-Salcedo D, Conejero L, Alves H, Balsa A, de la Concha EG: Primary association of tumor necrosis factor-region genetic markers with susceptibility to rheumatoid arthritis. Arthritis Rheum 43:1366, 2000.