干扰素诱导跨膜蛋白3基因多态性与小儿流感严重程度相关性研究

Association of Interferon Inducible Transmembrane Protein 3 Gene Polymorphism with the Severity of Influenza in Children

目的 分析轻症和重症流感患儿干扰素诱导跨膜蛋白3基因（IFITM3）rs12252T/C基因多态性的分布特点,探讨其基因多态性与小儿流感严重程度的相关性。方法 选择符合流感诊断标准的患儿60例,其中重症流感患儿和轻症流感患儿各30例,通过从患儿外周血提取DNA扩增相应的目的片段并测序,检测IFITM3基因rs12252单核苷酸多态性分布情况,统计学分析小儿流感遗传易感性、严重程度相关的基因型和等位基因。结果 IFITM3基因rs12252 CC基因型在重症组患儿中占70.00%而在轻症组仅占26.67%;在隐形遗传模型中,CC纯合子比TT纯合子和CT杂合子有6倍大的风险患重症流感（OR=6.42,95%CI为2.08~19.76）。结论 IFITM3基因rs12252T/C基因多态性对中国人群流感的流行病学具有重要影响,CC基因型可能与儿童流感的严重程度相关。

Objective To analyze the distribution characteristics of IFITM3 gene rs12252T/C in children suffered from mild or severe influenza and explore the relationship between gene polymorphism and the severity of influenza. Methods 60 cases of children suffered from influenza diagnostic criteria were selected, including 30 cases of severe influenza and 30 with mild. IFITM3 gene rs12252 single nucleotide polymorphism was detected by DNA extracted from peripheral blood and sequenced, and the genotype and allele associated with genetic suscepti- bility and severity in children with influenza were analyzed statistically. Results IFITM3 gene rs12252 CC geno- type in the intensive group accounted for 70% while in the mild group accounted for only 26.67%. In the recessive genetic model, the CC genotype was estimated to confer six times greater risk for severe infection than the CT and TF genotypes（ OR = 6.42,95% CI ： 2.08 - 19.76）. Conclusion The polymorphism of rs12252T/C in 1FITM3 gene has an important influence on the epidemiology of influenza in Chinese population. CC genotype may be asso- ciated with the severity of childhood influenza.