Genetics of liver disease: Immunogenetics and disease pathogenesis
Genetics of liver disease: Immunogenetics and disease pathogenesis
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DOI：
10.1136/gut.2003.031732
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发表时间：
2004-04-01
期刊：
影响因子：
24.5
通讯作者：
Donaldson, PT
中科院分区：
文献类型：
--
作者：
Donaldson, PT
理解“复杂疾病”的遗传基础被认为是后基因组时代的主要挑战之一。然而，什么是“复杂疾病”？了解这些疾病的遗传学将如何推动医学科学的发展？关于人类基因组图谱计划的潜力，已经有了大量的“炒作”。2三个主要主张是，这些信息将：(A)用于诊断；(B)为疾病管理提供有用的预后指数(包括根据免疫遗传学和药物遗传学研究的结果制定个体化治疗方案)；以及(C)深入了解这些疾病的发病机制。在这三个目标中，最后一个目标潜力最大，也是最不夸张的说法。在这篇综述中，我将突出主要的联系，讨论出现的一些实际问题，并概述目前对慢性肝病的免疫遗传基础的认识如何开始为关于疾病发病机制的辩论提供信息。
Understanding the genetic basis of ‘‘complex disease’’has been heralded as one of the major challenges of the post genome era. 1 However what are ‘‘complex diseases’’and how will understanding the genetics of such diseases advance medical science? There has been a great deal of ‘‘hype’’about the potential of the human genome mapping project. 2 The three major claims are that this information will:(a) be used in diagnosis;(b) provide useful prognostic indices for disease management (including the development of individualised treatment regimens, based on the findings of both immunogenetic and pharmacogenetic studies); and (c) provide insight into the pathogenesis of these diseases. Of these three objectives the last has the greatest potential and is the least exaggerated claim. In this review I shall highlight major associations, discuss some of the practical issues that arise, and outline how current knowledge of the immunogenetic basis of chronic liver disease is beginning to inform the debate about disease pathogenesis.