Ⅰ型干扰素A8基因多态性与小儿结核病感染易感性的关系

摘要

Objective To explore the A8 Ⅰ type interferon (IFNA8)gene polymorphisms (SNPs)and the relationship of children sus-ceptibility to tuberculosis (TB)infection. Methods Using Haploview software from the international hapmap project (Hap Map)released by the han Chinese population genotype database extract IFNA8 gene 3 tag SNPs (rs1330322,rs10964982 and rs4978116),115 cases of tuberculosis in children with peripheral blood specimens (disease)were collected and direct sequencing method was adopted to improve the genotyping. The pe-ripheral blood of 123 children with healthy check-up was selected as control group. To compare distribution difference of SNP genotypes and al-leles of TB and healthy controls ,and odds ratio (OR)and 95% confidence interval (95% CI)were used to evaluate the above SNPs relations with pediatric TB infection. Results The distribution of rs1330322,rs10964982 and rs4978116 genotype and alleles in 115 cases of TB were in accordance with Hardy-Weinberg equilibrium. Compared with the healthy control,there was no statistically significant difference between the rs10964982,rs4978116 genotype and the distribution of alleles in the disease group (P ＞0.05). The difference between the two groups of rs1330322 genotype and allele was statistically significant (P ＜0.05),and the proportion of AA genotype and A allele in the disease group was higher than that in the control group (P ＜0.05). Rs1330322 distribution to GG genotype as reference,with AA and GA + AA genotype with the risk of TB infection,1.864,0.917 times (P ＜0.05). The type GA with the risk of TB infection has not changed (P ＞0.05). The risk of TB infection in children with A alleles increased by 0.790 times (P ＜0.05). Rs10964982,rs4978116 genotype and allele distribution were not related to the susceptibility of children to tuberculosis. The genotype and alleles of rs10964982,rs4978116 and rs1330322 were independent of gender and age. Conclusion IFNA8rs1330322 is related to the susceptibility of children to tuberculosis,and the risk of TB infection with allele A is higher,which is valuable in the early screening of childhood tuberculosis.%目的 探讨Ⅰ型干扰素A8(IFNA8)基因多态性(SNPs)与小儿结核病感染易感性的关系.方法 采用Haploview软件从国际人类基因组单体型图计划(Hap Map)公布的汉族人群基因型数据库中筛选出IFNA8基因3个标签SNPs(rs1330322、rs10964982及rs4978116),回顾性收集115例结核病患儿外周血标本(疾病组)并采用直接测序法进行基因分型,选取123例健康体检儿童的外周血作对比(对照组),比较结核病患儿与健康对照以上SNP基因型和等位基因的分布差异,以比值比(OR)及其95%置信区间(95%CI)来评价以上SNPs与小儿结核病易感性的关系.结果 15例结核病患儿rs1330322、rs10964982和rs4978116基因型和等位基因的分布符合Hardy-Weinberg平衡.与健康对照相比,疾病组rs10964982、rs4978116基因型和等位基因分布的差异无统计学意义(P ＞0.05);两组rs1330322基因型和等位基因分布的差异有统计学意义(P ＜0.05),其中疾病组AA基因型和A等位基因的比率均高于对照组(P ＜0.05).rs1330322分布上,以GG基因型为参照,携带AA及GA+AA基因型患儿结核病感染的风险升高了1.864、0.917倍(P＜0.05),而GA型患儿结核病感染的风险未改变(P ＞0.05);以G等位基因为参照,携带A等位基因的患儿结核病感染风险升高了0.790倍(P ＜0.05).rs10964982、rs4978116基因型及等位基因分布与小儿结核病易感性无关.结核病患儿rs10964982、rs4978116及rs1330322基因型和等位基因分布与性别、年龄均无关.结论 NA8rs1330322与小儿结核病易感性有关,其中携带等位基因A的结核病感染风险升高,在小儿结核病早期筛查中有一定价值.