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目的探讨Toll样受体7/髓样分化因子88(TLR7/My D88)信号通路基因多态性与肠道病毒71型(EV71)手足口病(HFMD)易感性及重症化的关联性。方法收集在西安交通大学第二附属医院和西安市儿童医院感染科收治的EV71 HFMD标本180例和健康对照标本201例。采用SNPscan多重SNP分型方法对381个样本的TLR7基因rs3853839、rs179010和My D88基因rs7744位点进行基因分型检测。结果男性患儿中TLR7基因rs3853839 C等位基因的易感性(OR=2.343,95%CI:1.516~3.621)与重症化(OR=1.939,95%CI:1.064~3.521)风险升高。男性患儿中TLR7rs179010 T等位基因的易感性(OR=1.701,95%CI:1.142~2.535)与重症化(OR=1.852,95%CI:1.038~3.305)风险升高。女性患儿中TLR7基因rs3853839、rs179010等位基因分布在病例组与对照组无明显差异。My D88基因rs7744多态性与EV71 HFMD易感性及病情轻重程度无明显关联性。结论 TLR7基因rs3853839、rs179010多态性与EV71 HFMD男性患儿易感性及病情严重程度相关。
Objective To investigate the association between Toll-like receptor 7 / myeloid differentiation factor 88 (TLR7 / My D88) gene polymorphism and the susceptibility and severity of enterovirus 71 (EV71) HFMD. Methods 180 EV71 HFMD specimens and 201 healthy controls were collected from the Second Affiliated Hospital of Xi’an Jiaotong University and Children’s Hospital of Xi’an. The polymorphisms of rs3853839, rs179010 and rs7744 of My D88 gene in TLR7 gene of 381 samples were detected by SNPscan multiplex SNP typing. Results The susceptibility (rs = 2.343, 95% CI: 1.516-3.621) and severity (OR = 1.939, 95% CI: 1.064-3.521) of rs3853839 C allele of TLR7 gene were significantly increased in male children. The susceptibility (OR = 1.701, 95% CI: 1.142-2.535) and severity (OR = 1.852, 95% CI: 1.038-3.305) of TLR7rs179010 T allele in male children were at increased risk. There was no significant difference in allele distribution of rs3853839 and rs179010 between TLR7 gene and control group in female patients. My D88 gene rs7744 polymorphism and EV71 HFMD susceptibility and severity of disease no significant correlation. Conclusion The rs3853839 and rs179010 polymorphisms of TLR7 gene are associated with the susceptibility and severity of EV71 HFMD male patients.