Shen Chen, Qi Hui, Sun Lin, Xiao Jing, Yin Qing-qin, Jiao Wei-wei, Wu Xi-rong, Tian Jian-ling, Han Rui, Shen A-dong
Key Laboratory of Major Diseases in Children and National, Key Discipline of Pediatrics, (Capital Medical University), Ministry of Education, Beijing Pediatric Research Institute, Beijing Children's Hospital, Capital Medical University, No. 56 Nan-li-shi Road, Beijing 100045, China.
Biomed Res Int. 2014;2014:483759. doi: 10.1155/2014/483759. Epub 2014 Mar 19.
IL-6 is a proinflammatory cytokine that plays a critical role in host defense against tuberculosis (TB). Genetic polymorphisms of IL-6 and its receptor IL-6R had been discussed in adult TB recently. However, their role in pediatric TB is still unclear. Due to the obvious differences in TB pathophysiology in children, which may also reflect differences in genetic background, further association studies in pediatric populations are needed.
A case-control study was carried out in a Chinese pediatric population including 353 TB patients and 400 healthy controls. Tag-SNPs of IL-6 and IL-6R genes were selected by Haploview software, genotyped using MassArray, and analyzed statistically.
One polymorphism, rs2229238, in the 3'UTR region of IL-6R was observed to be associated with increased resistance to TB (adjusted P = 0.03). The rs2229238 T allele contributed to a reduced risk to TB in recessive heritable model (OR, 0.53; 95% CI, 0.35-0.78).
By tag-SNP genotyping based case-control study, we identified a genetic polymorphism in the IL-6R 3'UTR that regulates host resistance to pediatric TB in a Chinese population.
白细胞介素-6（IL-6）是一种促炎细胞因子，在宿主抗结核防御中起关键作用。IL-6及其受体IL-6R的基因多态性最近在成人结核病中已有讨论。然而，它们在儿童结核病中的作用仍不清楚。由于儿童结核病病理生理学存在明显差异，这也可能反映出遗传背景的差异，因此需要在儿童人群中进行进一步的关联研究。
在中国儿童人群中开展了一项病例对照研究，包括353例结核病患者和400例健康对照。通过Haploview软件选择IL-6和IL-6R基因的标签单核苷酸多态性（Tag-SNP），采用MassArray进行基因分型并进行统计学分析。
观察到IL-6R的3'非翻译区（3'UTR）中的一个多态性位点rs2229238与结核病抵抗力增加有关（校正P = 0.03）。在隐性遗传模型中，rs2229238的T等位基因降低了患结核病的风险（比值比，0.53；95%可信区间，0.35 - 0.78）。
通过基于标签单核苷酸多态性基因分型的病例对照研究，我们在中国人群中鉴定出IL-6R的3'UTR中的一种基因多态性，其调节宿主对儿童结核病的抵抗力。
