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首页> 外文期刊>Clinics in dermatology >Genetics of leprosy: Expected and unexpected developments and perspectives
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Genetics of leprosy: Expected and unexpected developments and perspectives

机译：麻风病的遗传学：预期和意外的发展和观点

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A solid body of evidence produced over decades of intense research supports the hypothesis that leprosy phenotypes are largely dependent on the genetic characteristics of the host. The early evidence of a major gene effect controlling susceptibility to leprosy came from studies of familial aggregation, twins, and Complex Segregation Analysis. Later, linkage and association analysis, first applied to the investigation of candidate genes and chromosomal regions and more recently, to genome-wide scans, have revealed several leukocyte antigen complex and nonleukocyte antigen complex gene variants as risk factors for leprosy phenotypes such as disease per se, its clinical forms and leprosy reactions. In addition, powerful, hypothesis-free strategies such as Genome-Wide Association Studies have led to an exciting, unexpected development: Leprosy susceptibility genes seem to be shared with Crohn's and Parkinson's diseases. Today, a major challenge is to find the exact variants causing the biological effect underlying the genetic associations. New technologies, such as Next Generation Sequencing that allows, for the first time, the cost and time-effective sequencing of a complete human genome, hold the promise to reveal such variants. Strategies can be developed to study the functional effect of these variants in the context of infection, hopefully leading to the development of new targets for leprosy treatment and prevention. (C) 2015 Elsevier Inc. All rights reserved.
机译：经过数十年深入研究的大量证据支持以下假设：麻风病表型在很大程度上取决于宿主的遗传特征。控制家族成员对麻风病易感性的主要基因效应的早期证据来自家族聚集，双胞胎和复杂分离分析的研究。后来，链接和关联分析首先应用于候选基因和染色体区域的研究，最近又应用于全基因组扫描，发现了一些白细胞抗原复合物和非白细胞抗原复合物基因变异是麻风病表型（如疾病）的危险因素。本身，其临床形式和麻风反应。此外，强大的，无假设的策略（如全基因组关联研究）导致了令人兴奋的意外发展：麻风病易感基因似乎与克罗恩病和帕金森氏病共享。今天，一个主要的挑战是找到引起遗传关联潜在生物学效应的确切变体。下一代测序等新技术首次允许对完整的人类基因组进行成本高效且时间有效的测序，有望揭示此类变异。可以制定策略来研究这些变体在感染环境中的功能作用，从而有望导致开发出治疗和预防麻风病的新靶标。 （C）2015 Elsevier Inc.保留所有权利。

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