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

Background: Neutrophil cytosolic factor 1, p47(phox) (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 Delta GT/GTGT ratio) may influence the individual capacity to produce ROI. Methods: NCF1 Delta GT/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 Delta GT/GTGT ratio <= 1: 1. Delta GT/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.