人类免疫系统的遗传结构:自身免疫和疾病病原发生的生物资源
Mario Roederer1, Lydia Quaye2, Massimo Mangino3
1ImmunoTechnology Section, Vaccine Research Center, NIAID, NIH, Bethesda, MD 20892, USA.
Cell
|March 17, 2015
概括
研究人员通过分析双胞胎的数千个免疫特征来绘制人类免疫系统的遗传影响. 这项研究确定了控制免疫细胞子集和调节性T细胞的遗传位置,将它们与自身免疫性疾病联系起来.
科学领域:
- 免疫学 免疫学 免疫学
- 遗传学 是一个遗传学.
- 系统生物学 系统生物学
背景情况:
- 免疫恒温的遗传控制尚未得到充分理解.
- 最近的发现将遗传变异与自身免疫和感染联系起来.
研究的目的:
- 综合分析在恒常状态期间人类免疫系统的遗传控制.
- 识别与免疫特征相关的遗传位置及其与自身免疫性疾病的联系.
主要方法:
- 在669个雌性双胞胎中,对78,000个免疫特征进行了全面的免疫类型鉴定.
- 全基因组关联研究 (GWAS) 以确定单核酸多态 (SNP) 关联.
- 遗传性免疫特征的分析 (遗传率高达96%).
主要成果:
- 在11个遗传位点确定了297个SNP关联,解释了19个特征的多达36%的变异.
- 发现了所有主要免疫细胞子集,包括调节性T细胞,与正规特征的关联.
- 揭示了与已知的自身免疫敏感性局部相关的免疫特征.
结论:
- 建立了一个生物资源,将正常免疫特征的遗传控制与自身免疫和传染病联系起来.
- 为免疫相关疾病的病因提供了机械学假设.
- 为识别潜在的疾病机制提供了捷径.
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