Analysis of the variations in IL-28RA gene and their association with allergic rhinitis

Chae, Su-Cheon;Park, Yeong-Ran;Li, Chun-Shi;Lee, Jae-Hun;Yang, Yun-Sik;Qinggao, Zhang;Kim, Gyeong-Seok;Jeong, Heon-Taek
채수천;박영란;;이재훈;양윤식;;김경석;정헌택

  • Published : 20060000

Abstract

IL-28RA is one of the important candidate genes for complex trait of genetic diseases, but there is no published information of the genetic variation in this gene. We scanned the seven exons and their boundary introns sequence of IL-28RA including the promoter regions to analyze genetic variation sites, and identified eighteen single nucleotide polymor-phisms (SNPs) and two variation sites. We chose seven SNPs (g.-1193 A>C, g.-30 C>T, g.17654 C>T, g.27798 A>G, g.31265 C>T, g.31911 C>T and g.32349 G>A) of them for large sample size genotyping, and assessed the association of genotype and allele frequencies of these SNPs between allergic rhinitis patients and non-allergic rhinitis controls. We also compared the genotype frequencies between Korean controls and Han Chinese control or Korean Chinese control. We investigated the frequencies of haplotype con-structed by these SNPs between allergic rhinitis patients and non-allergic rhinitis controls. Our results suggested that the g.32349 G>A polymor-phism of IL-28RAsceptibility to allergic rhinitis (P= 0.032), but seems to have no relationship with serum total IgE levels. The haplotype frequencies by these SNPs also show significant association between controls and aller-gic rhinitis patients.

Keywords

References

  1. Azzawi M, Pravica V, Hasleton PS, Hutchinson IV. A single nucleotide polymorphism at position 109 of the RANTES proximal promoter. Eur J Immunogenet 2001;28:95-6 https://doi.org/10.1046/j.1365-2370.2001.00234.x
  2. Bidwell J, Keen L, Gallagher G, Kimberley R, Huizinga T, McDermott MF, Oksenberg J, McNicholl J, Pociot F, Hardt C, D'Alfonso S. Cytokine gene polymorphism in human disease: on-line databases. Genes Immun 1999;1:1-17 https://doi.org/10.1038/sj.gene.6363649
  3. Carpenter LR, Yancopoulos GD, Stahl N. General mechanisms of cytokine receptor signaling. Adv Protein Chem 1998;52: 109-40 https://doi.org/10.1016/S0065-3233(08)60434-9
  4. 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 2004a;30:274-8
  5. Chae SC, Park YR, Lee YC, Lee JH, Chung HT. The association of TIM-3 gene polymorphism with atopic disease in Korean population. Hum Immunol 2004b;65:1427-31 https://doi.org/10.1016/j.humimm.2004.07.002
  6. Chae SC, Park YR, Song JH, Shim SC, Yoon KS, Chung HT. The polymorphisms of Tim-1 promoter region are associated with rheumatoid arthritis in a Korean population. Immunogenetics 2005a;56:696-701 https://doi.org/10.1007/s00251-004-0743-5
  7. Chae SC, Park YR, Oh GJ, Lee JH, Chung HT. The suggestive association of eotaxin-2 and eotaxin-3 gene polymorphisms in Korean population with allergic rhinitis. Immunogenetics 2005b;56:760-4 https://doi.org/10.1007/s00251-004-0746-2
  8. Cheng L, Enomoto T, Hirota T, Shimizu M, Takahashi N, Akahoshi M, Matsuda A, Dake Y, Doi S, Enomoto K, Yamasaki A, Fukuda S, Mao XQ, Hopkin JM, Tamari M, Shirakawa T. Polymorphisms in ADAM33 are associated with allergic rhinitis due to Japanese cedar pollen. Clin Exp Allergy 2004;34: 1192-201 https://doi.org/10.1111/j.1365-2222.2004.02008.x
  9. Dumoutier L, Lejeune D, Hor S, Fickenscher H, Renauld JC. Cloning of a new type II cytokine receptor activating signal transducer and activator of transcription (STAT) 1, STAT2 and STAT3. Biochem J 2003;370:391-6 https://doi.org/10.1042/BJ20021935
  10. Dumoutier L, Tounsi A, Michiels T, Sommereyns C, Kotenko SV, Renauld JC. Role of the interleukin (IL)-28 receptor tyrosine residues for antiviral and antiproliferative activity of IL-29/ interferon- lambda 1: similarities with type I interferon signaling. J Biol Chem 2004;279:32269-74 https://doi.org/10.1074/jbc.M404789200
  11. Fryer AA, Spiteri MA, Bianco A, Hepple M, Jones PW, Strange RC, Makki R, Tavernier G, Smilie FI, Custovic A Woodcock AA, Ollier WE, Hajeer AH. The -403 G ${\rightarrow}$A promoter polymorphism in the RANTES gene is associated with atopy and asthma. Genes Immun 2000;1:509-14 https://doi.org/10.1038/sj.gene.6363717
  12. Gentile DA, Doyle WJ, Zeevi A, Howe-Adams J, Trecki J, Skoner DP. Association between TNF-${\alpha}$ and TGF-${\beta}$1 genotypes in infants and parental history of allergic rhinitis and asthma. Hum Immunol 2004;65:347-51 https://doi.org/10.1016/j.humimm.2004.01.014
  13. Gibson AW, Edberg JC, Wu J, Westendorp RG, Huizinga TW, Kimberly RP. Novel single nucleotide polymorphisms in the distal IL-10 promoter affect IL-10 production and enhance the risk of systemic lupus erythematosus. J Immunol 2001;166:3915-22 https://doi.org/10.4049/jimmunol.166.6.3915
  14. Hall MA, McGlinn E, Coakley G, Fisher SA, Boki K, Middleton D, Kaklamani E, Moutsopoulos H, Loughran TP Jr, Ollier WE, Panayi GS, Lanchbury JS. Genetic polymorphism of IL-12 p40 gene in immune-mediated disease. Genes Immun 2000;1: 219-24 https://doi.org/10.1038/sj.gene.6363661
  15. Hibi M, Hirano T. Signal transduction through cytokine receptors. Int Rev of Immunol 1998;17:75-102 https://doi.org/10.3109/08830189809084488
  16. Iwasaki H, Ota N, Nakajima T, Shinohara Y, Kodaira M, Kajita M, Emi M. Five novel single-nucleotide polymorphisms of human interferon gamma identified by sequencing the entire gene. J Hum Genet 2001;46:32-4 https://doi.org/10.1007/s100380170121
  17. Kotenko SV, Gallagher G, Baurin VV, Lewis-Antes A, Shen M, Shah NK, Langer JA, Sheikh F, Dickensheets H, Donnelly RP. IFN-lambdas mediate antiviral protection through a distinct class II cytokine receptor complex. Nat Immunol 2003;4:69-77 https://doi.org/10.1038/ni875
  18. Li CS, Chae SC, Lee JH, Zhang Q, 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
  19. Nakao F, Ihara K, Kusuhara K, Sasaki Y, Kinukawa N, Takabayashi A, Nishima S, Hara T. Association of IFN-gamma and IFN regulatory factor 1 polymorphisms with childhood atopic asthma. J Allergy Clin Immunol 2001;107:499-504 https://doi.org/10.1067/mai.2001.113051
  20. Onishi M, Nosaka T, Kitamura T. Cytokine receptors: structures and signal transduction. Int Rev of Immunol 1998;16:617-34 https://doi.org/10.3109/08830189809043011
  21. O'shea JJ, Ma A, Lipsky P. Cytokines and autoimmunity. Nat Rev Immunol 2002; 2:37-45 https://doi.org/10.1038/nri702
  22. Park YR, Choi SC, Lee ST, Kim KS, Chae SC, Chung HT. The association of eotaxin-2 and eotaxin-3 gene polymorphisms in a Korean population with ulcerative colitis. Exp Mol Med 2005;37:553-8 https://doi.org/10.1038/emm.2005.68
  23. Rubinstein M, Dinarello CA, Oppenheim JJ, Hertzog P. Recent advances in cytokines, cytokine receptors and signal transduction. Cytokine and Growth Factor Rev 1998;9:175-81 https://doi.org/10.1016/S1359-6101(98)00006-9
  24. Sheppard P, Kindsvogel W, Xu W, Henderson K, Schlutsmeyer S, Whitmore TE, Kuestner R, Garrigues U, Birks C, Roraback J, Ostrander C, Dong D, Shin J, Presnell S, Fox B, Haldeman B, Cooper E, Taft D, Gilbert T, Grant FJ, Tackett M, Krivan W, McKnight G, Clegg C, Foster D, Klucher KM. IL-28, IL-29 and their class II cytokine receptor IL-28R. Nat Immunol 2003;4:63-8 https://doi.org/10.1038/ni873
  25. Wang M, Xing ZM, Lu C, Ma YX, Yu DL, Yan Z, Wang SW, Yu LS. A common IL-13 Arg130Gln single nucleotide polymorphism among Chinese atopy patients with allergic rhinitis. Hum Genet 2003;113:387-90 https://doi.org/10.1007/s00439-003-1001-x
  26. Zhang J, Noguchi E, Migita O, Yokouchi Y, Nakayama J, Shibasaki M, Arinami. Association of a haplotype block spanning SDAD1 gene and CXC chemokine genes with allergic rhinitis. J Allergy Clin Immunol 2005;115:548-54 https://doi.org/10.1016/j.jaci.2004.11.034