Association Analysis of T-Cell Immunoglobulin and Mucin 1 Gene 5383-5397 Insertion/Deletion Polymorphism with Asthma and Total Serum Immunoglobulin E Levels in Patients with Asthma and Controls

Document Type : Original Article (s)

Authors

1 Professor, Department of Immunology, School of Medicine, Shahrekord University of Medical Sciences, Shahrekord, Iran

2 Department of Immunology, School of Medicine, Shahrekord University of Medical Sciences, Shahrekord, Iran

3 Assistant Professor, Cellular and Molecular Immunology Research Center AND Department of Immunology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran

4 Associate Professor, Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran

5 Subspecialist in Asthma, Allergy and Clinical Immunology, Department of Immunology, School of Medicine, Isfahan University of Medical Sciences Isfahan, Iran

6 Professor, Department of Genetics and Molecular Biology, School of Medicine, Shahrekord University of Medical Sciences, Shahrekord, Iran

7 Department of Immunology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran

8 Cellular and Molecular Research Center, Shahrekord University of Medical Sciences, Shahrekord, Iran

Abstract

Background: A member of a T-cell immunoglobulin (Ig) domain and mucin domain (TIM) gene family, TIM-1, in 5q31-33 region is shown to be correlated with development of T helper-2 (TH2) cells and allergic diseases. Polymorphism insertion/deletion (ins/del) of 5383-5397 may affect the length of TIM-1 mucin domain. The aim of this study was to investigate the association of polymorphism insertion/deletion (ins/del) 5383-5397 and susceptibility to asthma in Chaharmahal va Bakhtiari Province, Iran.Methods: Polymerase chain reaction (PCR) and polyacrylamide gel electrophoresis (PAGE) were used for investigating the presence of (ins/del) 5383-5397 polymorphism in 300 patients with asthma and healthy controls. Total IgE was measured via the enzyme-linked immunosorbent assay (ELISA) technique in their serum samples as well.Findings: Significant associations were found between the insertion/insertion genotype in 5383-5397 insertion/deletion polymorphism with both asthma and levels of total serum IgE in patients with asthma (P < 0.05). Furthermore, we found that the frequency of the deletion allele is significantly lower in patients with asthma.Conclusion: Based on these findings, we identified a significant association between 5383-5397 ins/del polymorphism with asthma and with total serum IgE levels in Chaharmahal va Bakhtiari Province population.

Keywords

References

  1. Masoli M, Fabian D, Holt S, Beasley R. The global burden of asthma: executive summary of the GINA Dissemination Committee report. Allergy 2004; 59(5): 469-78.
  2. Beasley R. The global burden of asthma report. Global Initiative for Asthma (GINA). 2004 [Online]. [cited 2010 Aug]; Available from: http://www.ginasthma.org/
  3. Los H, Koppelman GH, Postma DS. The importance of genetic influences in asthma. Eur Respir J 1999; 14(5): 1210-27.
  4. Sonar SS, Hsu YM, Conrad ML, Majeau GR, Kilic A, Garber E, et al. Antagonism of TIM-1 blocks the development of disease in a humanized mouse model of allergic asthma. J Clin Invest 2010; 120(8): 2767-81.
  5. Vercelli D. Discovering susceptibility genes for asthma and allergy. Nat Rev Immunol 2008; 8(3): 169-82.
  6. Holgate ST, Davies DE, Powell RM, Howarth PH, Haitchi HM, Holloway JW. Local genetic and environmental factors in asthma disease pathogenesis: chronicity and persistence mechanisms. Eur Respir J 2007; 29(4): 793-803.
  7. McIntire JJ, Umetsu SE, Akbari O, Potter M, Kuchroo VK, Barsh GS, et al. Identification of Tapr (an airway hyperreactivity regulatory locus) and the linked Tim gene family. Nat Immunol 2001; 2(12): 1109-16.
  8. Li JS, Liu QJ, Wang P, Li HC, Wei CH, Guo CH, et al. Absence of association between two insertion/deletion coding genetic polymorphisms of TIM-1 gene and asthma in Chinese Han population. Int J Immunogenet 2006; 33(6): 417-22.
  9. Marsh DG, Neely JD, Breazeale DR, Ghosh B, Freidhoff LR, Ehrlich-Kautzky E, et al. Linkage analysis of IL4 and other chromosome 5q31.1 markers and total serum immunoglobulin E concentrations. Science 1994; 264(5162): 1152-6.
  10. Postma DS, Bleecker ER, Amelung PJ, Holroyd KJ, Xu J, Panhuysen CI, et al. Genetic susceptibility to asthma--bronchial hyperresponsiveness coinherited with a major gene for atopy. N Engl J Med 1995; 333(14): 894-900.
  11. Mukherjee AB, Zhang Z. Allergic asthma: influence of genetic and environmental factors. J Biol Chem 2011; 286(38): 32883-9.
  12. Freeman GJ, Casasnovas JM, Umetsu DT, DeKruyff RH. TIM genes: a family of cell surface phosphatidylserine receptors that regulate innate and adaptive immunity. Immunol Rev 2010; 235(1): 172-89.
  13. Umetsu SE, Lee WL, McIntire JJ, Downey L, Sanjanwala B, Akbari O, et al. TIM-1 induces T cell activation and inhibits the development of peripheral tolerance. Nat Immunol 2005; 6(5): 447-54.
  14. Lee J, Phong B, Egloff AM, Kane LP. TIM polymorphisms--genetics and function. Genes Immun 2011; 12(8): 595-604.
  15. Chae SC, Song JH, Lee YC, Kim JW, Chung HT. The association of the exon 4 variations of Tim-1 gene with allergic diseases in a Korean population. Biochem Biophys Res Commun 2003; 312(2): 346-50.
  16. Noguchi E, Nakayama J, Kamioka M, Ichikawa K, Shibasaki M, Arinami T. Insertion/deletion coding polymorphisms in hHAVcr-1 are not associated with atopic asthma in the Japanese population. Genes Immun 2003; 4(2): 170-3.
  17. McIntire JJ, Umetsu SE, Macaubas C, Hoyte EG, Cinnioglu C, Cavalli-Sforza LL, et al. Immunology: hepatitis A virus link to atopic disease. Nature 2003; 425(6958): 576.
  18. Gao PS, Mathias RA, Plunkett B, Togias A, Barnes KC, Beaty TH, et al. Genetic variants of the T-cell immunoglobulin mucin 1 but not the T-cell immunoglobulin mucin 3 gene are associated with asthma in an African American population. J Allergy Clin Immunol 2005; 115(5): 982-8.
  19. Wu Q, Hu L, Cai P, Li Y, Chen F, Kong L. Association analysis of TIM-1 -232G > A and 5383_5397 insertion/deletion polymorphisms with childhood asthma and total serum immunoglobulin E levels in middle China. J Investig Allergol Clin Immunol 2009; 19(2): 146-53.
  20. Encinas JA, Janssen EM, Weiner DB, Calarota SA, Nieto D, Moll T, et al. Anti-T-cell Ig and mucin domain-containing protein 1 antibody decreases TH2 airway inflammation in a mouse model of asthma. J Allergy Clin Immunol 2005; 116(6): 1343-9.
  21. Meyers JH, Sabatos CA, Chakravarti S, Kuchroo VK. The TIM gene family regulates autoimmune and allergic diseases. Trends Mol Med 2005; 11(8): 362-9.
  22. Yeung MY, McGrath M, Najafian N. The emerging role of the TIM molecules in transplantation. Am J Transplant 2011; 11(10): 2012-9.
  23. Kaplan G, Totsuka A, Thompson P, Akatsuka T, Moritsugu Y, Feinstone SM. Identification of a surface glycoprotein on African green monkey kidney cells as a receptor for hepatitis A virus. EMBO J 1996; 15(16): 4282-96.
  24. Feigelstock D, Thompson P, Mattoo P, Zhang Y, Kaplan GG. The human homolog of HAVcr-1 codes for a hepatitis A virus cellular receptor. J Virol 1998; 72(8): 6621-8.
  25. Chae SC, Song JH, Shim SC, Yoon KS, Chung HT. The exon 4 variations of Tim-1 gene are associated with rheumatoid arthritis in a Korean population. Biochem Biophys Res Commun 2004; 315(4): 971-5.
Journal of Isfahan Medical School
Volume 32, Issue 300 - Serial Number 300
July and August 2014
Pages 1423-1432

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History

  • Receive Date: 08 June 2014
  • Revise Date: 29 April 2024
  • Accept Date: 06 April 2022

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