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Description of three new polymorphisms in the intronic and 3′UTR regions of the human interferon gamma gene

Genes & Immunity volume 3, pages 1–4 (2002)Cite this article

Abstract

Interferon-gamma (IFN-γ) is a key regulator of the development and functions of the immune system. In particular, this cytokine plays a major role in immune defense against infections by various human pathogens and polymorphisms in the IFN-γ gene, including the transcription regulatory region, and might affect host resistance to infectious agents such as schistosomes. In this study on the genetics of human schistosomiasis we uncovered three new single nucleotide polymorphisms in the IFN-γ genes. Two polymorphisms are located in the third intron and the third is in the 3 ′UTR region of this gene: an A to G transition at position +2109 from the transcription start and two G to A transitions at positions +3810 and +5134. In a SUDANESE population living in an endemic area of malaria and schistosomiasis, the allelic frequencies are: 0.85 (+2109A), 0.15 (+2109G), 0.92 (+3810G), 0.08 (+3810A), (+5134G) and 0.04 (+5134A).

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Acknowledgements

We thank Dr Howard Cann for providing the CEPH reference population DNAs. We are grateful to Dr Roy Riblet for critical reading of the manuscript.

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Author notes

  1. S Henri and C Chevillard: C Chevillard and S Henri were supported by fellowships from the Conseil Général PACA and from the french Ministry of Research and Technologies.

Authors and Affiliations

  1. INSERM U399, Immunologie et Génétique des Maladies Parasitaires, Faculté de Médecine, 27 bd J. Moulin, Marseille cedex, 13385, France

    S Henri, F Stefani, C Eboumbou, A Dessein & C Chevillard

  2. Institut de Médecine Tropicale du Service de Santé des Armées (IMTSSA), Marseille, F-13007, France

    D Parzy

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  1. S Henri
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  2. F Stefani
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  3. D Parzy
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  4. C Eboumbou
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  5. A Dessein
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  6. C Chevillard
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Correspondence to C Chevillard.

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This work received financial assistance from INSERM, CNRS, WHO (ID096546).

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Henri, S., Stefani, F., Parzy, D. et al. Description of three new polymorphisms in the intronic and 3′UTR regions of the human interferon gamma gene. Genes Immun 3, 1–4 (2002). https://doi.org/10.1038/sj.gene.6363809

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  • DOI: https://doi.org/10.1038/sj.gene.6363809

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