Toll 样受体与人类疾病：单核苷酸多态性的启示。
Toll-like receptors and human disease: lessons from single nucleotide polymorphisms.
机构信息
Department of Medicine, Duke University Medical Center & Mandel Center for Hypertension and Atherosclerosis Research, Durham, NC 27710, USA.
出版信息
Curr Genomics. 2012 Dec;13(8):633-45. doi: 10.2174/138920212803759712.
Abstract
Toll-like receptors (TLRs), a large group of proteins which recognize various pathogen-associated molecular patterns, are critical for the normal function of the innate immune system. Following their discovery many single nucleotide polymorphisms within TLRs and components of their signaling machinery have been discovered and subsequently implicated in a wide range of human diseases including atherosclerosis, sepsis, asthma, and immunodeficiency. This review discusses the effect of genetic variation on TLR function and how they may precipitate disease.
摘要
toll 样受体（TLRs）是一大类能够识别各种病原体相关分子模式的蛋白质，对固有免疫系统的正常功能至关重要。在发现 TLRs 之后，人们发现了它们及其信号机制的许多单个核苷酸多态性，随后这些多态性与包括动脉粥样硬化、脓毒症、哮喘和免疫缺陷在内的多种人类疾病有关。本综述讨论了遗传变异对 TLR 功能的影响，以及它们如何引发疾病。
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