NCF1基因与假基因模式：与寄生虫感染及自身免疫的关联
NCF1 gene and pseudogene pattern: association with parasitic infection and autoimmunity.
作者信息
Greve Bernhard, Hoffmann Peter, Vonthein Reinhard, Kun Jürgen, Lell Bertrand, Mycko Marcin P, Selmaj Krysztof W, Berger Klaus, Weissert Robert, Kremsner Peter G
机构信息
Hertie Institute for Clinical Brain Research, Department of General Neurology, University of Tübingen, Tübingen, Germany.
出版信息
Malar J. 2008 Dec 11;7:251. doi: 10.1186/1475-2875-7-251.
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.
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.
背景
中性粒细胞胞质因子1，即p47phox（NCF1）是白细胞NADPH氧化酶复合物的一个组成部分，介导活性氧中间体（ROI）的形成，而ROI在宿主防御和自身免疫中发挥重要作用。ncf1及其两种假基因的个体基因组模式（由DeltaGT/GTGT比率反映）可能会影响个体产生ROI的能力。
方法
将NCF1DeltaGT/GTGT比率与恶性疟原虫疟疾期间的临床参数和ROI产生以及自身免疫性疾病多发性硬化症（MS）的易感性相关联。
结果
在患有严重疟疾的加蓬儿童中，外周血ROI产生在DeltaGT/GTGT比率≤1:1的个体中往往更高。DeltaGT/GTGT比率与MS的易感性无关，但与MS患者的发病年龄有关。
结论
NCF1及其假基因的基因组模式可能会影响ROI产生，但仅对疟疾和MS的易感性及结果产生轻微影响。
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