Open Access Research

NCF1 gene and pseudogene pattern: association with parasitic infection and autoimmunity

Bernhard Greve1*, Peter Hoffmann1, Reinhard Vonthein2, Jürgen Kun3, Bertrand Lell34, Marcin P Mycko5, Krysztof W Selmaj5, Klaus Berger6, Robert Weissert17 and Peter G Kremsner34

Author Affiliations

1 Hertie Institute for Clinical Brain Research, Department of General Neurology, University of Tübingen, Tübingen, Germany

2 Department of Medical Biometry, University of Tübingen, Tübingen, Germany

3 Department of Parasitology, Institute of Tropical Medicine, University of Tübingen, Tübingen, Germany

4 Medical Research Unit, Albert Schweitzer Hospital, Lambarene, Gabon

5 Department of Neurology, Laboratory of Neuroimmunology, Medical University of Lodz, Poland

6 Institute of Epidemiology and Social Medicine, University of Münster, Münster, Germany

7 Geneva Research Center, Merck Serono International SA, Geneva, Switzerland

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Malaria Journal 2008, 7:251  doi:10.1186/1475-2875-7-251

Published: 11 December 2008

Abstract

Background

Neutrophil cytosolic factor 1, p47phox (NCF1) is a component of the leukocyte NADPH oxidase complex mediating formation of reactive oxygen intermediates (ROI) which play an important role in host defense and autoimmunity. An individual genomic pattern of ncf1 and its two types of pseudogenes (reflected by the ΔGT/GTGT ratio) may influence the individual capacity to produce ROI.

Methods

NCF1ΔGT/GTGT ratios were correlated with clinical parameters and ROI production during Plasmodium falciparum malaria and with susceptibility to the autoimmune disease multiple sclerosis (MS).

Results

Among Gabonese children with severe malaria, ROI production from peripheral blood tended to be higher in individuals with a ΔGT/GTGT ratio ≤ 1:1. ΔGT/GTGT ratios were not associated with susceptibility to MS, but to age-of-onset among MS patients.

Conclusion

The genomic pattern of NCF1 and its pseudogenes might influence ROI production but only marginally influence susceptibility to and outcome of malaria and MS.