{"title":"Recent advances in the genetics of alopecia areata.","authors":"F Buket Basmanav, Regina C Betz","doi":"10.1515/medgen-2023-2004","DOIUrl":null,"url":null,"abstract":"<p><p>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.</p>","PeriodicalId":48632,"journal":{"name":"Medizinische Genetik","volume":"35 1","pages":"15-22"},"PeriodicalIF":0.8000,"publicationDate":"2023-04-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10842544/pdf/","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Medizinische Genetik","FirstCategoryId":"99","ListUrlMain":"https://doi.org/10.1515/medgen-2023-2004","RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2023/4/1 0:00:00","PubModel":"eCollection","JCR":"Q4","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}
引用次数: 0
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.
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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