儿童特发性间质性肺疾病与SPC基因外显子4 T138N位点基因多态性相关性研究

Correlation of surfactant protein-C exon 4 T138N genetic polymorphisms with idiopathic interstitial lung disease in children

目的探讨肺表面活性物质相关蛋白C(surfactant protein-C,SP-C)基因外显子4 T138N位点基因多态性与儿童特发性间质性肺疾病易感性的关系。方法特发性间质性肺疾病患儿67例为观察组,同期住院非特发性间质性肺疾病患儿102例为对照组,采用高通量测序法检测2组SP-C基因外显子4 T138N位点基因多态性,比较2组SP-C基因外显子4 T138N位点基因型分布和等位基因频率。结果观察组SP-C基因外显子4 T138N位点CC、CA、AA基因型分布频率(59.7%、31.3%、9.0%)与对照组(50.0%、40.2%、9.8%)比较差异无统计学意义(P>0.05);观察组SP-C基因外显子4 T138N位点C、A等位基因频率(75.4%、24.6%)与对照组(70.8%、29.2%)比较差异无统计学意义(P>0.05)。结论 SP-C基因外显子4 T138N位点基因多态性可能与儿童特发性间质性肺疾病易感性无关。

Objective To explore the relationship between surfactant protein-C(SP-C)exon 4 T138N genetic polymorphisms and the susceptibility of idiopathic interstitial lung disease in children.Methods SP-C exon 4 T138N genetic polymorphisms were detected by high-throughput sequencing in 67 children with idiopathic interstitial lung disease(observation group)and 102 children with non-idiopathic interstitial lung disease(control group)to compare the genotype and allele distribution of exon 4T138N.Results There were no significant differences in the frequencies of genotype CC,CA and AA of exon 4T138N between observation group(59.7%,31.3%,9.0%)and control group(50.0%,40.2%,9.8%)(P>0.05),as well as in the genotype distribution of allele C and A of SP-C exon 4T138N between observation group(75.4%,24.6%)and control group(70.8%,29.2%)(P>0.05).Conclusion The polymorphism of exon 4T138N of SP-C gene is not involved in the susceptibility of idiopathic interstitial lung disease in children.