Zhao Jie, Zhang Wen, Shen Li, Yang Xiaomeng, Liu Yi, Gai Zhongtao
Pediatric Research Institute, Qilu Children's Hospital of Shandong University, Jinan Clinical Laboratory, Central Hospital of Zibo, Zibo Clinical Laboratory, Fourth Hospital of Jinan, Jinan, China.
Medicine (Baltimore). 2017 Apr;96(15):e6642. doi: 10.1097/MD.0000000000006642.
Mycoplasma pneumoniae is a common cause of community-acquired pneumonia (CAP) and the clinical presentation of mycoplasma pneumoniae pneumonia (MPP) varies widely. Genetic variability affecting the host response may also influence the susceptibility to MPP. Several studies have investigated the association between single nucleotide polymorphism (SNP) of some genes and the risks of CAP; however, the results were inconsistent. Here, we investigated the association of 5 functional genes and the risks of MPP, including ACE (rs4340), GSTM1 (Ins/del), IL-6 (rs1800795), NOS3 (rs1799983), and CYP1A1 (rs2606345) in a total of 715 subjects (415 cases, 300 controls) by using tetra-primer allele-specific polymerase chain reaction (PCR) and Sanger sequencing. The gene-gene interactions were analyzed using the Multifactor Dimensionality Reduction and cumulative genetic risk score approaches. Our results showed that 3 SNPs of ACE rs4340, IL-6 rs1800795, and NOS3 rs1799983 were significantly associated with the risks of MPP, while no differences were observed in genotype frequencies of GSTM1 (Ins/del) and CYP1A1 rs2606345 between both groups. The combinations of ACE rs4340D/NOS3 rs1799983T/CYP1A1 rs2606345G and ACE rs4340D/NOS3 rs1799983T contribute to the genetic susceptibility of MPP in Chinese children.
肺炎支原体是社区获得性肺炎（CAP）的常见病因，肺炎支原体肺炎（MPP）的临床表现差异很大。影响宿主反应的基因变异性也可能影响对MPP的易感性。多项研究调查了某些基因的单核苷酸多态性（SNP）与CAP风险之间的关联；然而，结果并不一致。在此，我们通过使用四引物等位基因特异性聚合酶链反应（PCR）和桑格测序，对总共715名受试者（415例病例，300例对照）中5个功能基因ACE（rs4340）、GSTM1（插入/缺失）、IL-6（rs1800795）、NOS3（rs1799983）和CYP1A1（rs2606345）与MPP风险的关联进行了研究。使用多因素降维和累积遗传风险评分方法分析基因-基因相互作用。我们的结果表明，ACE rs4340、IL-6 rs1800795和NOS3 rs1799983的3个SNP与MPP风险显著相关，而两组之间GSTM1（插入/缺失）和CYP1A1 rs2606345的基因型频率未观察到差异。ACE rs4340D/NOS3 rs1799983T/CYP1A1 rs2606345G和ACE rs4340D/NOS3 rs1799983T的组合导致中国儿童MPP的遗传易感性。
