The TMEM173 polymorphism was identified in EV71-infected patients (n = 497) and healthy controls (n = 535) using the improved multiplex ligation detection reaction (iMLDR). The interferon-α (IFN-α) serum levels were detected using enzyme linked immunosorbent assay (ELISA).
The frequencies of the GG genotype and G allele of TMEM173 rs7447927 in the mild EV71 infection and severe EV71 infection groups were markedly higher than those in the control group. The GG genotype and G allele frequencies in severely infected EV71 patients were significantly higher than those in mildly infected EV71 patients. Severely infected EV71 patients with the GG genotype had higher white blood cell counts (WBC), and C-reactive proteins (CRP), and blood glucose (BG) levels, longer fever duration, higher vomiting frequency, spirit changes, and electroencephalography (EEG) abnormalities. IFN-α serum concentration in severely infected patients was significantly higher than in the mildly infected group. The IFN-α concentration in the GG genotype was significantly higher compared with those in the GC and CC genotypes in severe cases.
The TMEM173 rs7447927 polymorphism was associated with EV71 infection susceptibility and severity. The G allele and GG genotype are susceptibility factors in the development of severe EV71 infection in Chinese children.
方法:使用改进的多重连接检测反应(iMLDR)在EV71感染患者(n=497)和健康对照(n=535)中鉴定了TMEM173多态性。采用酶联免疫吸附试验(ELISA)检测血清干扰素-α(IFN-α)水平。
结果:在轻度EV71感染和严重EV71感染组中,TMEM173rs7447927的GG基因型和G等位基因频率明显高于对照组。严重感染EV71患者的GG基因型和G等位基因频率明显高于轻度感染EV71患者。GG基因型严重感染的EV71患者的白细胞计数(WBC)较高,和C反应蛋白(CRP),血糖(BG)水平,发热持续时间较长,呕吐频率更高,精神改变,和脑电图(EEG)异常。严重感染患者的IFN-α血清浓度明显高于轻度感染组。在严重病例中,GG基因型的IFN-α浓度明显高于GC和CC基因型。
结论:TMEM173rs7447927多态性与EV71感染易感性和严重程度相关。G等位基因和GG基因型是中国儿童严重EV71感染发展的易感因素。