Skip to main content

Thank you for visiting nature.com. You are using a browser version with limited support for CSS. To obtain the best experience, we recommend you use a more up to date browser (or turn off compatibility mode in Internet Explorer). In the meantime, to ensure continued support, we are displaying the site without styles and JavaScript.

  • Brief Communication
  • Published:

A functional variant of IFNγ gene is associated with coeliac disease

Genes & Immunity volume 5, pages 517–519 (2004)Cite this article

Abstract

In coeliac disease (CD) a profile of proinflammatory cytokines are secreted interferon gamma (IFNγ) being one of the most important. A dinucleotide polymorphism consisting of a variable number of CA repeats related with IFNγ production levels, has been reported on the first intron of the IFNγ gene. The aim of this study was to analyse the influence of the functional IFNγ CA repeats in CD predisposition through familial and case–control studies. The familial analysis showed that the 124 bp allele was significantly more transmitted to the affected offspring (P=0.02), while the 126 bp allele showed a statistically significant nontransmission pattern (P=0.01). Nevertheless, in the case–control analysis, we could not find a direct association of CA repeats with CD. This fact might be due to parent-of-origin effect in the IFNγ CA polymorphism. Our data suggest a possible role of IFNγ CA polymorphism in CD susceptibility.

This is a preview of subscription content, access via your institution

Access options

Buy this article

  • Purchase on Springer Link
  • Instant access to full article PDF
Buy now

Prices may be subject to local taxes which are calculated during checkout

Similar content being viewed by others

References

  1. Sollid LM . Coeliac disease: dissecting a complex inflammatory disorder. Nat Rev Immunol 2002; 2: 647–655.

    Article  CAS  Google Scholar 

  2. Nilsen EM, Jahnsen FL, Lundin KE et al. Gluten induces an intestinal cytokine response strongly dominated by interferon gamma in patients with celiac disease. Gastroenterology 1998; 115: 551–563.

    Article  CAS  Google Scholar 

  3. Kontakou M, Sturgess RP, Przemioslo RT et al. Detection of interferon gamma mRNA in the mucosa of patients with coeliac disease by in situ hybridisation. Gut 1994; 35: 1037–1041.

    Article  CAS  Google Scholar 

  4. Pravica V, Asderakis A, Perrey C et al. In vitro production of IFN-gamma correlates with CA repeat polymorphism in the human IFN-gamma gene. Eur J Immunogenet 1999; 26: 1–3.

    Article  CAS  Google Scholar 

  5. Pociot F, Veijola R, Johannesen J et al. Analysis of an interferon-gamma gene (IFNG) polymorphism in Danish and Finnish insulin-dependent diabetes mellitus (IDDM) patients and control subjects. Danish Study Group of Diabetes in Childhood. J Interferon Cytokine Res 1997; 17: 87–93.

    Article  CAS  Google Scholar 

  6. Awad M, Pravica V, Perrey C et al. CA repeat allele polymorphism in the first intron of the human interferon-gamma gene is associated with lung allograft fibrosis. Hum Immunol 1999; 60: 343–346.

    Article  CAS  Google Scholar 

  7. Tegoshi H, Hasegawa G, Obayashi H et al. Polymorphisms of interferon-gamma gene CA-repeat and interleukin-10 promoter region (-592A/C) in Japanese type I diabetes. Hum Immunol 2002; 63: 121–128.

    Article  CAS  Google Scholar 

  8. Dudbridge F . Pedigree disequilibrium tests for multilocus haplotypes. Genet Epidemiol 2003; 25: 115–221.

    Article  Google Scholar 

  9. Walker S et al. Revised criteria for diagnosis of coeliac disease. Report of Working Group of European Society of Paediatric Gastroenterology and Nutrition. Arch Dis Child 1990; 65: 909–911.

    Article  Google Scholar 

  10. Weinberg CR . Methods for detection of parent-of-origin effects in genetic studies of case-parents triads. Am J Hum Genet 1999; 65: 229–235.

    Article  CAS  Google Scholar 

  11. Le Stunff C, Fallin D, Bougneres P . Paternal transmission of the very common class I INS VNTR alleles predisposes to childhood obesity. Nat Genet 2001; 29: 96–99.

    Article  CAS  Google Scholar 

  12. Melvin AJ, McGurn ME, Bort SJ et al. Hypomethylation of the interferon-gamma gene correlates with its expression by primary T-lineage cells. Eur J Immunol 1995; 25: 426–430.

    Article  CAS  Google Scholar 

  13. Fitzpatrick DR, Shirley KM, Kelso A . Stable epigenetic inheritance of regional IFN-gamma promoter demethylation in CD44highCD8+ T lymphocytes. J Immunol 1999; 162: 5053–5057.

    CAS  PubMed  Google Scholar 

  14. Kaneko-Ishino T, Kohda T, Ishino F . The regulation and biological significance of genomic imprinting in mammals. J Biochem 2003; 133: 699–711.

    Article  CAS  Google Scholar 

Download references

Acknowledgements

We thank Ma Paz Ruiz for technical support. This work was supported by grants from Plan Nacional de I+D SAF 2003-03460 (CICYT), FIS 01/F011 and in part by Junta de Andalucía grupo CTS-180.

Author information

Authors and Affiliations

  1. Instituto de Parasitología y Biomedicina ‘López-Neyra’, CSIC, Granada, Spain

    B Rueda & J Martín

  2. Servicio de Inmunología Clínica, Hospital Clínico San Carlos, Madrid, Spain

    A Martínez, A Mas-Fontao, M Fernández-Arquero, E Urcelay & E Gomez de la Concha

  3. Servicio de Inmunología, Hospital Virgen de las Nieves, Granada, Spain

    M A López-Nevot & L Paco

  4. Servicio Pediatría, Hospital Clínico San Cecilio, Granada, Spain

    E Ortega

Authors
  1. B Rueda
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. A Martínez
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. M A López-Nevot
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. A Mas-Fontao
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. L Paco
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. E Ortega
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. M Fernández-Arquero
    View author publications

    You can also search for this author in PubMed Google Scholar

  8. E Urcelay
    View author publications

    You can also search for this author in PubMed Google Scholar

  9. E Gomez de la Concha
    View author publications

    You can also search for this author in PubMed Google Scholar

  10. J Martín
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to J Martín.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Rueda, B., Martínez, A., López-Nevot, M. et al. A functional variant of IFNγ gene is associated with coeliac disease. Genes Immun 5, 517–519 (2004). https://doi.org/10.1038/sj.gene.6364115

Download citation

  • Received:

  • Revised:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1038/sj.gene.6364115

Keywords

This article is cited by

Search

Advanced search

Quick links