NCF1 gene and pseudogene pattern: association with parasitic infection and autoimmunity.
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 DeltaGT/GTGT ratio) may influence the individual capacity to produce ROI.


METHODS
NCF1DeltaGT/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 DeltaGT/GTGT ratio </= 1:1. DeltaGT/GTGT ratios were not associated with susceptibility to MS, but to age-of-onset among MS patients.


CONCLUSIONS
The genomic pattern of NCF1 and its pseudogenes might influence ROI production but only marginally influence susceptibility to and outcome of malaria and MS.
Greve
Bernhard
B
Hertie Institute for Clinical Brain Research, Department of General Neurology, University of Tübingen, Tübingen, Germany. bernhard.greve@uni-tuebingen.de
Hoffmann
Peter
P
Vonthein
Reinhard
R
Kun
Jürgen
J
Lell
Bertrand
B
Mycko
Marcin P
MP
Selmaj
Krysztof W
KW
Berger
Klaus
K
Weissert
Robert
R
Kremsner
Peter G
PG
D017668:Age of Onset; D015551:Autoimmunity; D016022:Case-Control Studies; D002648:Child; D005681:Gabon / Q000453:epidemiology; D020022:Genetic Predisposition to Disease; D005858:Germany / Q000453:epidemiology; D006098:Granulocytes / Q000378:metabolism; D006801:Humans; D016778:Malaria, Falciparum / Q000453:epidemiology / Q000235:genetics* / Q000276:immunology; D009103:Multiple Sclerosis / Q000453:epidemiology / Q000235:genetics*; D019255:NADPH Oxidases / Q000235:genetics*; D011044:Poland / Q000453:epidemiology; D011544:Pseudogenes; D017382:Reactive Oxygen Species / Q000378:metabolism*
D017382:Reactive Oxygen Species; D019255:NADPH Oxidases; C060505:neutrophil cytosolic factor 1