Genetic polymorphism of IL-12 p40 gene in immune-mediated disease

Genes and Immunity

Volumn 1, Issue 3, 2000, Pages 219-224

  Hall, M A ^a   McGlinn, E ^a   Coakley, G ^a   Fisher, S A ^a   Boki, K ^b   Middleton, D ^c   Kaklamani, E ^b   Moutsopoulos, H ^b   Loughran Jr , T P ^d   Ollier, W E R ^e   Panayi, G S ^a   Lanchbury, J S ^a  

^a GUY S HOSPITAL   (United Kingdom)

^b UNIVERSITY OF ATHENS MEDICAL SCHOOL   (Greece)

^c BELFAST CITY HOSPITAL   (United Kingdom)

^d H LEE MOFFITT CANCER CENTER AND RESEARCH INSTITUTE   (United States)

^e UNIVERSITY OF MANCHESTER   (United Kingdom)

Author keywords

Cytokine, genetic polymorphism; Interleukin 12; Rheumatoid arthritis

Indexed keywords

INTERLEUKIN 12; PRIMER DNA;

ALLELE; ANIMAL; ARTICLE; CASE CONTROL STUDY; FELTY SYNDROME; GENE FREQUENCY; GENETIC POLYMORPHISM; GENETIC VARIABILITY; GENETICS; GREECE; HUMAN; IMMUNOLOGY; IMMUNOPATHOLOGY; LYMPHOCYTOSIS; MULTIPLE SCLEROSIS; NUCLEOTIDE SEQUENCE; PAN TROGLODYTES; RHEUMATOID ARTHRITIS; SYNDROME; UNITED KINGDOM;

ALLELES; ANIMALS; ARTHRITIS, RHEUMATOID; BASE SEQUENCE; CASE-CONTROL STUDIES; DNA PRIMERS; FELTY'S SYNDROME; GENE FREQUENCY; GREAT BRITAIN; GREECE; HUMANS; IMMUNE SYSTEM DISEASES; INTERLEUKIN-12; LYMPHOCYTOSIS; MULTIPLE SCLEROSIS; PAN TROGLODYTES; POLYMORPHISM, GENETIC; SYNDROME; VARIATION (GENETICS);

EID: 0034139793     PISSN: 14664879     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.gene.6363661     Document Type: Article

References (42)

1. Vyse TJ, Todd JA. Genetic analysis of autoimmune disease. Cell 1996; 85: 311-319.
2. Lander ES, Schork NJ. Genetic dissection of complex traits (published erratum appears in Science 1994 Oct 21;266(5184):353). Science 1994; 265: 2037-2048.
3. Terwilliger JD, Weiss KM. Linkage disequilibrium mapping of complex disease: fantasy or reality? Curr Opin Biotechnol 1998; 9: 578-594.
4. Blakemore AI, Cox A, Gonzalez AM et al. Interleukin-1 receptor antagonist allele (IL1RN*2) associated with nephropathy in diabetes mellitus. Hum Genet 1996; 97: 369-374.
5. Kornman KS, Crane A, Wang HY et al. The interleukin-1 genotype as a severity factor in adult periodontal disease. J Clin Periodontol 1997; 24: 72-77.
6. Duff GW. Interleukin-1 receptor antagonist and genetic susceptibility to inflammation. J Interferon Res 1994; 14: 305.
7. Hershey GK, Friedrich MF, Esswein LA, Thomas ML, Chatila TA. The association of atopy with a gain-of-function mutation in the alpha subunit of the interleukin-4 receptor (see comments). N Engl J Med 1997; 337: 1720-1725.
8. Keul R, Heinrich PC, Muller-newen G, Muller K, Woo P. A possible role for soluble IL-6 receptor in the pathogenesis of systemic onset juvenile chronic arthritis. Cytokine 1998; 10: 729-734.
9. Mok CC, Lanchbury JS, Chan DW, Lau CS. Interleukin-10 promoter polymorphisms and systemic lupus erythematosus in southern Chinese. Arthritis and Rheumatism 1998; 41: 1090.
10. Lim S, Crawley E, Woo P, Barnes PJ. Haplotype associated with low interleukin-10 production in patients with severe asthma (letter). Lancet 1998; 352: 113.
11. Huizinga TWJ, Keijsers V, Yanni G et al. Differences in IL-10 production are associated with joint damage. Rheumatology 1999; submitted.
12. Mosmann TR, Cherwinski H, Bond MW, Giedlin MA, Coffman RL. Two types of murine helper T cell clone. I. Definition according to profiles of lymphokine activities and secreted proteins. J Immunol 1986; 136: 2348-2357.
13. Mosmann TR, Coffman RL. TH1 and TH2 cells: different patterns of lymphokine secretion lead to different functional properties. Annu Rev Immunol 1989; 7: 145-173.
14. Gately MK, Renzetti LM, Magram J et al. The interleukin-12/interleukin-12-receptor system: role in normal and pathologic immune responses. Annu Rev Immunol 1998; 16: 495-521.
15. Trembleau S, Germann T, Gately MK, Adorini L. The role of IL-12 in the induction of organ-specific autoimmune diseases. Immunol Today 1995; 16: 383-386.
16. Trinchieri G. Interleukin-12: a cytokine produced by antigen-presenting cells with immunoregulatory functions in the generation of T-helper cells type 1 and cytotoxic lymphocytes. Blood 1994; 84: 4008-4027.
17. Gieni RS, Fang Y, Trinchieri G, Umetsu DT, DeKruyff RH. Differential production of IL-12 in BALB/c and DBA/2 mice controls IL-4 versus IFN-gamma synthesis in primed CD4 lymphocytes. Int Immunol 1996; 8: 1511-1520.
18. Altare F, Lammas D, Revy P et al. Inherited interleukin 12 deficiency in a child with bacille Calmette-Guerin and Salmonella enteritidis disseminated infection. J Clin Invest 1998; 102: 2035-2040.
19. Altare F, Durandy A, Lammas D et al. Impairment of mycobacterial immunity in human interleukin-12 receptor deficiency. Science 1998; 280: 1432-1435.
20. de Jong R, Altare F, Haagen IA et al. Severe mycobacterial and Salmonella infections in interleukin-12 receptor-deficient patients. Science 1998; 280: 1435-1438.
21. Buetow KH, Edmonson MN, Cassidy AB. Reliable identification of large numbers of candidate SNPs from public EST data. Nat Genet 1999; 21: 323-325.
22. Navikas V, Link H. Review: cytokines and the pathogenesis of multiple sclerosis. J Neurosci Res 1996; 45: 322-333.
23. Comabella M, Balashov K, Issazadeh S, Smith D, Weiner HL, Khoury SJ. Elevated interleukin-12 in progressive multiple sclerosis correlates with disease activity and is normalized by pulse cyclophosphamide therapy. J Clin Invest 1998; 102: 671-678.
24. Gentile TC, Loughran TP, Jr. Interleukin-12 is a costimulatory cytokine for leukemic CD3+ large granular lymphocytes. Cell Immunol 1995; 166: 158-161.
25. Gollob JA, Schnipper CP, Orsini E et al. Characterization of a novel subset of CD8(+) T cells that expands in patients receiving interleukin-12. J Clin Invest 1998; 102: 561-575.
26. Lanchbury JSS, Jaeger EEM, Sansom DM et al. Strong primary selection for the Dw4 subtype of DR4 accounts for the HLA-DQw7 association with Felly's syndrome. Hum Immunol 1991; 32: 56-64.
27. Bowman SJ, Sivakumaran M, Snowden NS et al. The large granular lymphocyte syndrome with rheumatoid arthritis: immunogenetic evidence for a broader definition of Felty's syndrome. Arthritis and Rheumatism 1994; 37: 1326-1330.
28. Coakley G, Brooks D, Iqbal M et al. MHC haplotypic associations in Felty's syndrome and large granular lymphocyte leukemia are secondary to allelic association with HLA-DRB1*0401. Rheumatology 1999; (in press).
29. Loughran Jr TP. Clonal diseases of large granular lymphocytes. Blood 1993; 82: 1-14.
30. Coakley G, Manlios N, Loughran Jr. TP, Panayi GS, Lanchbury JS. Fas promoter polymorphisms do not confer susceptibility to Felty's and large granular lymphocyte syndromes. Rheumatology 1999; 38: 883-886.
31. Coakley G, Mok CC, Hajeer AH et al. IL-10 promoter polymorphisms in rheumatoid arthritis and Felty's syndrome. Br J Rheumatol 1998; 37: 988-991.
32. Marquet S, Abel L, Hillaire D et al. Genetic localization of a locus controlling the intensity of infection by Schistosoma mansoni on chromosome 5q31-q33. Nat Genet 1996; 14: 181-184.
33. Martinez FD, Solomon S, Holberg CJ, Graves PE, Baldini M, Erickson RP. Linkage of circulating eosinophils to markers on chromosome 5q. Am J Respir Crit Care Med 1998; 158: 1739-1744.
34. Rodrigues V, Jr., Piper K, Couissinier-Paris P, Bacelar O, Dessein H, Dessein AJ. Genetic control of schistosome infections by the SM1 locus of the 5q31-q33 region is linked to differentiation of type 2 helper T lymphocytes (In Process Citation). Infect Immun 1999; 67: 4689-4692.
35. Palmer LJ, Daniels SE, Rye PJ et al. Linkage of chromosome 5q and 11q gene markers to asthma-associated quantitative traits in Australian children. Am J Respir Crit Care Med 1998; 158: 1825-1830.
36. Daniels SE, Bhattacharrya S, James A, et al. A genome-wide search for quantitative trait loci underlying asthma. Nature 1996; 383: 247-2450.
37. Arnett FC, Edworthy SM, Bloch DA et al. The American Rheumatism Association 1987 revised criteria for the classification of rheumatoid arthritis. Arthritis Rheum 1988; 31: 315-324.
38. Worthington J, Ollier WE, Leach MK et al. The Arthritis and Rheumatism Council's National Repository of Family Material: pedigrees from the first 100 rheumatoid arthritis families containing affected sibling pairs. Br J Rheumatol 1994; 33: 970-976.
39. Boki KA, Panayi GS, Vaughan RW, Drosos AA, Moutsopoulos HM, Lanchbury JS. HLA class II sequence polymorphisms and susceptibility to rheumatoid arthritis in Greeks. The HLA-DR beta shared-epitope hypothesis accounts for the disease in only a minority of Greek patients. Arthritis Rheum 1992; 35: 749-755.
40. Boki KA, Drosos AA, Tzioufas AG, Lanchbury JS, Panayi GS, Moutsopoulos HM. Examination of HLA-DR4 as a severity marker for rheumatoid arthritis in Greek patients. Ann Rheum Dis 1993; 52: 517-519.
41. Bowman SJ, Corrigal V, Panayi GS, Lanchbury JS. Haematological and cytofluorographic analysis of Felty's syndrome. A hypothesis that a discrete event leads to large granular lymphocyte expansions in this condition. Arthritis Rheum 1995; 38: 1252-1259.
42. Starkebaum G, Loughran TP, Jr., Gaur LK, Davis P, Nepom BS. Immunogenetic similarities between patients with Felty's syndrome and those with clonal expansions of large granular lymphocytes in rheumatoid arthritis. Arthritis Rheum 1997; 40: 624-626.