关键词: Copy number variation Gene polymorphisms Human leukocyte antigen Immunogenetics Insertion-deletion Single nucleotide polymorphism Variable number of tandem repeat Copy number variation Gene polymorphisms Human leukocyte antigen Immunogenetics Insertion-deletion Single nucleotide polymorphism Variable number of tandem repeat

Mesh : Alopecia Areata / genetics Humans Immunogenetics Polymorphism, Genetic Psoriasis / pathology

来  源:   DOI:10.1007/978-3-030-92616-8_1

Abstract:
Genetics plays a major role in shaping the immune responses in both physiological and pathological states such as psoriasis, alopecia areata, and other immune-mediated dermatological conditions. The genes encoding the elements of the immune system and its regulators are among the most polymorphous loci in the genome. Subtle variations in these genes can thus alter the balanced defensive responses of the immune system and make an individual liable to diseases and environmental triggers. Immunogenetics deals with finding the precise set of liability genes involved in the pathogenesis of specific complex diseases. In this chapter, we will briefly discuss the basic principles of genetic polymorphisms, the methods used in scanning these polymorphisms, and the strategies employed to find the role of these polymorphisms in complex diseases.
摘要:
遗传学在塑造生理和病理状态如牛皮癣的免疫反应中起着重要作用。斑秃,和其他免疫介导的皮肤病。编码免疫系统元件及其调节因子的基因是基因组中最多态的基因座之一。因此,这些基因的细微变化可以改变免疫系统的平衡防御反应,并使个体易于疾病和环境触发。免疫遗传学致力于寻找与特定复杂疾病的发病机理有关的精确的责任基因集。在这一章中,我们将简要讨论遗传多态性的基本原理,扫描这些多态性的方法,以及用于发现这些多态性在复杂疾病中的作用的策略。
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