Shenzhen–Hong Kong Institute of Infectious Disease, Shenzhen Third People’s Hospital, Guangdong Medical College, Shenzhen, 518020, China.
Sci Rep. 2011;1:20. doi: 10.1038/srep00020. Epub 2011 Jun 21.
Recent studies showed that IL-22 plays a protective role in the host defense. However, the contribution of polymorphisms of the IL-22 gene to human TB susceptibility remains untested. We have designed a computational approach to select functional SNPs in the IL-22 gene and genotyped them in a two-stage case-control study in Chinese (479 cases and 358 controls). We found that rs2227473, an SNP in the promoter region of IL-22, is associated with TB susceptibility at both stages of our study. The SNP shows associations with p-values of 0.028 and 0.034 respectively, and a combined p-value of 0.0086, with odds ratio at 0.65 (95% confidence interval 0.45-0.90). We further validated the association with an independent cohort (413 cases and 241 controls in Chinese). Our functional studies showed that patients with A allele have significantly higher IL-22 expression than those without A allele under both non-specific and specific stimulations.
最近的研究表明，IL-22 在宿主防御中发挥保护作用。然而，IL-22 基因多态性对人类结核病易感性的贡献仍未得到验证。我们设计了一种计算方法来选择 IL-22 基因中的功能性 SNP，并在一项中国的两阶段病例对照研究中对它们进行基因分型（479 例病例和 358 例对照）。我们发现，位于 IL-22 启动子区域的 SNP rs2227473 与研究的两个阶段的结核病易感性相关。该 SNP 分别与 p 值为 0.028 和 0.034 相关，合并 p 值为 0.0086，比值比为 0.65（95%置信区间为 0.45-0.90）。我们进一步用一个独立的队列（中国的 413 例病例和 241 例对照）进行了验证。我们的功能研究表明，在非特异性和特异性刺激下，携带 A 等位基因的患者的 IL-22 表达明显高于不携带 A 等位基因的患者。
