Two new polymorphisms in the human interferon gamma (IFN-γ) promoter

Authors


Christophe Chevillard, INSERM U399, Immunology and Genetics of Parasitic Diseases, Faculty of Medicine, 27 bd J. Moulin, 13385 Marseille Cedex, France. E-mail: christophe.chevillard@medecine.University-mrs.fr

Summary

Two new single-nucleotide polymorphisms are described within the human interferon gamma (IFN-γ) promoter in a Sudanese population. One is a G to T transition at position −183 from the transcription start. The other is a A to G transition at position −155. Allelic frequency analysis indicated frequencies of 0.927 (G) and 0.073 (T) at position −183 and 0.977 (A) and 0.023 (G) at position −155. These two polymorphisms have not been detected in the Centre d’Etude du Polymorphisme Humain (CEPH) reference population. The polymorphism −183(G → T) may alter the AP-1 binding domain and the regulation of transcription. The polymorphism −155(A → G) is located close to the nuclear factor-activated T-cell site (NFAT site) (−168 TAAAGGAAA-160) and may affect the stability of this region.

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