Association of FOXJ1 polymorphisms with systemic lupus erythematosus and rheumatoid arthritis in Korean population

Li, Chun-Shi;Zhang, Qinggao;Lim, Mi-Kyoung;Sheen, Dong-Hyuk;Shim, Seung-Cheol;Kim, Ji-Young;Lee, Shin-Seok;Yun, Ki-Jung;Moon, Hyung-Bae;Chung, Hun-Taeg;Chae, Soo-Cheon

  • Published : 20071200

Abstract

The forkhead-box J1 (FOXJ1) transcription factor could suppress a spontaneous activation of T cells and κBβ that results in re-pression of NF-κB activity. In Foxj1 deficiency mice, systemic autoimune inflamation is quite comon symptom. Therefore, deregulated Foxj1 is suposed to be associated with autoimmune diseases and/or other inflammatory diseases. Previously, we identified that polymorphisms of human FOXJ1 gene (g.460C>T, g.1805G>T and g.3375G>C) are associated with al-lergic rhinitis in a Korean population. In present study, we compared the genotype and allele frequencies of these SNPs between healthy controls and systemic lu-pus erythematosus (SLE) or rheumatoid arthritis (RA) patients. We also investigated the relationships be-twen each genotype and the expression levels of anti- nuclear antibodies in SLE patients, and rheumatoid patients. The frequencies of haplotypes constructed by these FOXJ1 SNPs were compared between con-trols and SLE (or RA) patients. The results of genotype and allele analysis showed that the prevalence of poly-morphism g.3375G>C was associated with the sus-ceptibility of SLE (P = 0.0072 and 0.0042, respectively). But no significant association was found with RA. In the haplotype analysis, however, the main CGG patients (P = 0.048).

Keywords

References

  1. Abbas AK, Murphy KM, Sher A. Functional diversity of helper T lymphocytes. Nature 1996;383:787-93 https://doi.org/10.1038/383787a0
  2. Akahoshi M, Nakashima H, Tanaka Y, Kohsaka T, Nagano S, Ohgami E, Arinobu Y, Yamaoka K, Niiro H, Shinozaki M, Hirakata H, Horiuchi T, Otsuka T, Niho Y. Th1/Th2 balance of peripheral T helper cells in systemic lupus erythematosus. Arthritis Rheumatism 1999;42:1644-8 https://doi.org/10.1002/1529-0131(199908)42:8<1644::AID-ANR12>3.0.CO;2-L
  3. Arnett FC, Edworthy SM, Bloch DA, McShane DJ, Fries JF, Cooper NS, Healey LA, Kaplan SR, Liang MH, Luthra HS, et al. The American Rheumatism Association 1987 revised criteria for the classification of rheumatoid arthritis. Arthritis Rheum 1988;31:315-24 https://doi.org/10.1002/art.1780310302
  4. Blatt EN, Yan XH, Wuerffel MK, Hamilos DL, Brody SL. Forkhead transcription factor HFH-4 expression is temporally related to ciliogenesis. Am J Respir Cell Mol Biol 1999;21:168-76 https://doi.org/10.1165/ajrcmb.21.2.3691
  5. Cantor RM, Yuan J, Napier S, Kono N, Grossman JM, Hahn BH, Tsao BP. Systemic lupus erythematosus genome scan: support for linkage at 1q23, 2q33, 16q12-13, and 17q21-23 and novel evidence at 3p24, 10q23-24, 13q32, and 18q22-23. Arthritis Rheum 2004;50:3203-10 https://doi.org/10.1002/art.20511
  6. Carlsson P, Mahlapuu M. Forkhead transcription factors: key players in development and metabolism. Dev Biol 2002;250:1-23 https://doi.org/10.1006/dbio.2002.0780
  7. Chae SC, Song JH, Pounsambath P, Yuan HY, Lee JH, Kim JJ, Lee YC, Chung HT. Molecular variations in Th1-specific cell surface gene Tim-3. Exp Mol Med 2004;30:274-8
  8. Chang DM, Su WL, Chu SJ. The expression and significance of intracellular T helper cytokines in systemic lupus erythematosus. Immunol Invest 2002;31:1-12 https://doi.org/10.1081/IMM-120003217
  9. Chen J, Knowles HJ, Hebert JL, Hackett BP. Mutation of the mouse hepatocyte nuclear factor/forkhead homologue 4 gene results in an absence of cilia and random left-right asymmetry. J Clin Invest 1998;102:1077-82 https://doi.org/10.1172/JCI4786
  10. Coffer PJ, Burgering BMT. Forkhead-box transcription factors and their role in the immune system. Nat Rev Immunol 2004;4:889-99 https://doi.org/10.1038/nri1488
  11. Dolhain RJ, van der Heiden AN, ter Haar NT, Breedveld FC, Miltenburg AM. Shift toward T lymphocytes with a T helper 1 cytokine-secretion profile in the joints of patients with rheumatoid arthritis. Arthritis Rheum 1996;39:1961-9 https://doi.org/10.1002/art.1780391204
  12. Gregersen PK. Genetics of rheumatoid arthritis: confronting complexity. Arthritis Res 1999;1:37-44 https://doi.org/10.1186/ar9
  13. Hackett BP, Brody SL, Liang M, Zeitz ID, Bruns LA, Gitlin JD. Primary structure of hepatocyte nuclear factor/forkhead homologue 4 and characterization of gene expression in the developing respiratory and reproductive epithelium, Proc Natl Acad Sci USA 1995;92:4249-53
  14. Harrison B, Thomson W, Symmons D, Ollier B, Wiles N, Payton T, Barrett E, Silman A. The influence of HLA-DRB1 alleles and rheumatoid factor on disease outcome in an inception cohort of patients with early inflammatory arthritis. Arthritis Rheum 1999;42:2174-83 https://doi.org/10.1002/1529-0131(199910)42:10<2174::AID-ANR19>3.0.CO;2-G
  15. Ho IC, Glimcher LH. Transcription: tantalizing times for T cells. Cell 2002;109:S109-20 https://doi.org/10.1016/S0092-8674(02)00705-5
  16. Hochberg MC. Updating the American College of Rheumatology revised criteria for the classification of systemic lupus erythematosus. Arthritis Rheum 1997;40:1725
  17. Hochberg MC. The epidemiology of systemic lupus erythe-matosus. In: Dubois' lupus erythematosus (Wallace DJ, Hahn BH eds), 1997, 49-65, Williams and Wilkins, Baltimore
  18. Kaestner KH, Knochel W, Martinez DE. Unified nomenclature for the winged helix/forkhead transcription factors. Genes Dev 2000;14:142-6
  19. Kotzin B. Systemic lupus erythematosus. Cell 1996;85:303-6
  20. Kuchroo VK, Das MP, Brown JA, Ranger AM, Zamvil SS, Sobel RA, Weiner HL, Navabi N, Glimcher LH. B7-1 and B7-2 costimulatory molecules differentially activate the TH1/TH2 developmental pathways: application to autoimmune disease therapy. Cell 1995;80:707-16 https://doi.org/10.1016/0092-8674(95)90349-6
  21. Kuersten S, Goodwin EB. The power of the 3' UTR: translational control and development. Nat Rev Genet 2003;4:626-37 https://doi.org/10.1038/nrg1125
  22. Lafaille JJ, Keere FV, Hsu AL, Baron JL, Haas W, Raine CS, Toneqawa S. Myelin basic protein-specific T helper 2 (Th2) cells cause experimental autoimmune encephalomyelitis in immuno-deficient hosts rather than protect them from the disease. J Exp Med 1997;186:307-12 https://doi.org/10.1084/jem.186.2.307
  23. Li CH, Chae SC, Lee JH, Zhang QG, Chung HT. Identification of single nucleotide polymorphisms in FOXJ1 and their association with allergic rhinitis. J Hum Genet 2006;51:292-7 https://doi.org/10.1007/s10038-006-0359-8
  24. Lim L, Zhou H, Costa RH. The winged helix transcription factor HFH-4 is expressed during choroid plexus epithelial development in the mouse embryo. Proc Natl Acad Sci USA 1997;94:3094-9 https://doi.org/10.1073/pnas.94.7.3094
  25. Lin L, Spoor MS, Gerth AJ, Brody SL, Peng SL. Modulation of Th1 activation and inflammation by the NF-kappaB repressor Foxj1. Science 2004;303:1017-20 https://doi.org/10.1126/science.1093889
  26. Lin L, Brody SL, Peng SL. Restraint of B cell activation by Foxj1-mediated antagonism of NF-kappaB and IL-6. J Immunol 2005;175:951-8 https://doi.org/10.4049/jimmunol.175.2.951
  27. Mosmann TR, Coffman RL. TH1 and TH2 cells: different patterns of lymphokine secretion lead to different functional properties. Annu Rev Immunol 1989;7:145-73 https://doi.org/10.1146/annurev.iy.07.040189.001045
  28. Schellekens GA, Visser H, de Jong BA, van den Hoogen FH, Hazes JM, Breedveld FC, van Venrooij WJ. The diagnostic properties of rheumatoid arthritis antibodies recognizing a cyclic citrullinated peptide. Arthritis Rheum 2000;43:155-63 https://doi.org/10.1002/1529-0131(200001)43:1<155::AID-ANR20>3.0.CO;2-3
  29. Simon AK, Seipelt E, Sieper J. Divergent T-cell cytokine patterns in inflammatory arthritis. Proc Natl Acad Sci USA 1994;91:8562-6 https://doi.org/10.1073/pnas.91.18.8562
  30. Tran H, Brunet A, Griffith EC, Greenberg ME. The many forks in FOXO's road. Sci STKE 2003;272:RE5
  31. Van der Heide A, Jacobs JW, Haanen HC, Bijlsma JW. Is it possible to predict the first year extent of pain and disability for patients with rheumatoid arthritis? J Rheumatol 1995;22:1466-70
  32. Weigel D, Jackle H. The fork head domain: a novel DNA binding motif of eukaryotic transcription factors. Cell 1990;63:455-6 https://doi.org/10.1016/0092-8674(90)90439-L