Recent advances in the genetics of alopecia areata.

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-2023-2004
F Buket Basmanav, Regina C Betz
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Abstract

Alopecia areata (AA) is a common autoimmune-mediated hair loss disorder in humans with an estimated lifetime risk of approximately 2 %. Episodes of hair loss usually begin with isolated hairless patches that may progress to complete hair loss over the entire body. A familial occurrence of AA is well established, with recurrence risks of about 6-8 % in first-degree relatives. AA is a multifactorial disorder involving both environmental and genetic risk factors. Previous research has identified 14 susceptibility loci, most of which implicate genes involved in the immune response. The following review presents a summary of the latest findings from genome-wide association, sequencing and gene expression studies of AA, as well as their contribution to the recent therapeutic developments.

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斑秃遗传学研究进展
摘要斑秃(AA)是一种常见的自身免疫介导的人类脱发疾病,估计终生风险约为2 %. 脱发发作通常始于孤立的无毛斑块,可能会发展到全身完全脱发。AA的家族性发病已得到充分证实,复发风险约为6-8 % 一级亲属。AA是一种涉及环境和遗传风险因素的多因素疾病。先前的研究已经确定了14个易感基因座,其中大多数涉及参与免疫反应的基因。以下综述综述了AA的全基因组关联、测序和基因表达研究的最新发现,以及它们对最近治疗进展的贡献。
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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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