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人类SNP将炎症和传染病的不同结果与FOXO3调节的途径联系起来

James C Lee¹, Marion Espéli, Carl A Anderson

¹Cambridge Institute for Medical Research, University of Cambridge, Cambridge Biomedical Campus, Cambridge CB2 0XY, UK; Department of Medicine, University of Cambridge School of Clinical Medicine, Addenbrooke's Hospital, Cambridge CB2 0QQ, UK.

|September 17, 2013

概括

一种特定的基因变异 (rs12212067:G等位基因) 影响疾病预后,但不影响易感性. 这种遗传因素调节炎症反应,影响诸如克罗恩病和类风湿关节炎等疾病.

科学领域:

遗传学是一个遗传学.
免疫学免疫学免疫学
复杂的疾病复杂的疾病

背景情况:

疾病的预后在个体之间有很大差异,影响患者的治疗结果.
这种预后变化的遗传基础在很大程度上仍未被探索.
全基因组关联研究 (GWAS) 提供了一种强大的工具,用于调查对疾病过程的遗传影响.

研究的目的:

研究遗传因素在确定疾病预后中的作用.
识别与疾病结果相关的特定遗传变异.
阐明将遗传变异与疾病过程联系起来的分子机制.

主要方法:

对现有的全基因组关联研究 (GWAS) 数据的分析.
在FOXO3A基因中识别和表征特定的非编码多态 (rs12212067:T > G).
研究小等位基因 (G) 对单细胞炎症反应的功能影响.

主要成果:

虽然rs12212067的小等位基因 (G) 与疾病易感性无关,但与克罗恩病和类风湿性关节炎的较温和临床过程有关.
这种等位基因也与严重疟疾的风险增加有关.
小等位基因的携带通过涉及TGFβ1的FOXO3驱动途径限制单细胞中的炎症反应,减少促炎细胞因子 (例如TNFα),增加抗炎细胞因子 (例如IL-10).

结论:

已经确定了在不同的疾病中对预后的共同遗传贡献.
这种贡献通过FOXO3驱动的途径运行,该途径调节炎症反应.
这些发现强调了针对治疗干预以改善疾病结果的治疗途径的潜力.

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