银屑病谱系的遗传基础

IF 0.8 4区 生物学 Q4 GENETICS & HEREDITY Medizinische Genetik Pub Date : 2023-04-05 eCollection Date: 2023-04-01 DOI:10.1515/medgen-2023-2005
Ulrike Hüffmeier, Janine Klima, Mohammad Deen Hayatu
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引用次数: 0

摘要

摘要银屑病领域包括罕见亚型和常见亚型。常见的复杂形式包括寻常型银屑病和银屑病关节炎。在这些亚型中,某些HLA等位基因仍然是最相关的遗传因素,尽管全基因组关联研究发现了80多个易感基因座。它们主要影响先天免疫和适应性免疫,并解释了超过28 % 遗传力。脓疱型银屑病包括一组罕见的亚型。使用外显子组测序,几个疾病基因被鉴定为主要是全身性脓疱性银屑病,并且可能是寡基因遗传。基于受影响的IL-36通路的治疗研究表明,该亚型的高应答率进一步支持了受影响基因产物的病理生理相关性。
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Genetic underpinnings of the psoriatic spectrum.

The psoriatic field includes both rare and common subtypes. Common complex forms include psoriasis vulgaris and psoriatic arthritis. In these subtypes, certain HLA alleles remain the most relevant genetic factors, although genome-wide association studies lead to the detection of more than 80 susceptibility loci. They mainly affect innate and adaptive immunity and explain over 28 % of the heritability. Pustular psoriasis comprises a group of rarer subtypes. Using exome sequencing, several disease genes were identified for mainly generalized pustular psoriasis, and an oligogenic inheritance is likely. Treatment studies based on the affected IL-36 pathway indicate a high response rate in this subtype further supporting the pathophysiological relevance of the affected gene products.

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来源期刊
Medizinische Genetik
Medizinische Genetik Medicine-Genetics (clinical)
CiteScore
1.40
自引率
9.10%
发文量
48
审稿时长
>12 weeks
期刊介绍: medizinischegenetik is a scientific journal that is owned and published by the German Society of Human Genetics e.V. since 1989. The journal was founded by Prof. Jan Murken, München. Self-published until 2006, from 2007-2019 published at Springer Verlag and since 2020 at De Gruyter. medizinischegenetik serves education and training among colleagues, the interdisciplinary exchange of knowledge in all areas of human genetics in clinics, practice, research and teaching. Each issue of the quarterly journal deals with a focus that provides a comprehensive overview of current developments in specific clinical pictures, technical developments and therapeutic approaches. All reviews are written in English language. The journal thus creates a platform for the international exchange of knowledge and increased awareness of German research activities in the scientific community. In addition, medizinischegenetik contains information on activities in its own subject in the German-language section. This includes conference reports, association announcements, personnel matters, statements and guidelines. With health policy questions, historical retrospectives and comments on current developments, the profession takes a stand on human genetic issues in Germany, Austria and Switzerland.
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