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Frontmatter 头版头条
4区 生物学 Q4 GENETICS & HEREDITY Pub Date : 2023-06-01 DOI: 10.1515/medgen-2023-frontmatter2
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引用次数: 0
Aufbau eines neuen Patientenregisters für Gorlin-Goltz-Syndrom. Gorlin-Goltz综合征新患者登记表的建立
IF 1.1 4区 生物学 Q4 GENETICS & HEREDITY Pub Date : 2023-04-05 eCollection Date: 2023-04-01 DOI: 10.1515/medgen-2023-2007
Franziska Schnabel
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引用次数: 0
New insights from genetic studies of eczema. 湿疹基因研究的新见解
IF 1.1 4区 生物学 Q4 GENETICS & HEREDITY Pub Date : 2023-04-05 eCollection Date: 2023-04-01 DOI: 10.1515/medgen-2023-2010
Ingo Marenholz, Aleix Arnau-Soler, Oscar Daniel Rosillo-Salazar, Young-Ae Lee

Genome-wide association studies (GWAS) provided fundamental insight into the genetic determinants of complex allergic diseases. For eczema, 58 susceptibility loci were reported. Protein-changing variants were associated with eczema at genome-wide significance at 12 loci. The majority of risk variants were, however, located in non-coding, regulatory regions of the genome. Prioritized target genes were enriched in pathways of the immune response and of epithelial barrier function. Interestingly, a large overlap in the genetic architecture underlying different allergic diseases was identified pointing to common pathomechanisms for eczema, asthma, hay fever, and food allergy. Here, we review the most recent findings from GWAS for eczema including the role of rare variants and genetic heterogeneity in ethnically diverse populations. In addition, we provide an overview of genes underlying Mendelian disorders featuring eczematous skin inflammation.

全基因组关联研究(GWAS)为复杂过敏性疾病的遗传决定因素提供了基本的见解。湿疹有58个易感位点。蛋白质改变变异与湿疹在12个位点上具有全基因组意义。然而,大多数风险变异位于基因组的非编码调控区域。在免疫应答和上皮屏障功能通路中富集了优先的靶基因。有趣的是,在不同过敏性疾病的遗传结构中发现了很大的重叠,指出了湿疹、哮喘、花粉热和食物过敏的共同病理机制。在这里,我们回顾了GWAS对湿疹的最新发现,包括罕见变异和遗传异质性在不同种族人群中的作用。此外,我们提供的基因基础孟德尔疾病的湿疹性皮肤炎症的概述。
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引用次数: 0
Recent advances in the genetics of alopecia areata. 斑秃遗传学研究进展
IF 0.8 4区 生物学 Q4 GENETICS & HEREDITY Pub Date : 2023-04-05 eCollection Date: 2023-04-01 DOI: 10.1515/medgen-2023-2004
F Buket Basmanav, Regina C Betz

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.

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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引用次数: 0
Dermatological diseases from a genetic perspective. 从遗传学角度看皮肤病
IF 1.1 4区 生物学 Q4 GENETICS & HEREDITY Pub Date : 2023-04-05 eCollection Date: 2023-04-01 DOI: 10.1515/medgen-2023-2009
Regina C Betz, Ulrike Hüffmeier
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引用次数: 0
Male-pattern hair loss: Comprehensive identification of the associated genes as a basis for understanding pathophysiology. 男性型脱发:综合鉴定相关基因作为理解病理生理学的基础
IF 0.8 4区 生物学 Q4 GENETICS & HEREDITY Pub Date : 2023-04-05 eCollection Date: 2023-04-01 DOI: 10.1515/medgen-2023-2003
Sabrina K Henne, Markus M Nöthen, Stefanie Heilmann-Heimbach

Male-pattern hair loss (MPHL) is a highly heritable and prevalent condition that is characterized by progressive hair loss from the frontotemporal and vertex scalp. This androgen-dependent hair loss may commence during puberty, and up to 80 % of European men experience some degree of MPHL during their lifetime. Current treatment options for MPHL have limited efficacy, and improved understanding of the underlying biological causes is required to facilitate novel therapeutic approaches. To date, molecular genetic studies have identified 389 associated genomic regions, have implicated numerous genes in these regions, and suggested pathways that are likely to contribute to key pathophysiological mechanisms in MPHL. This review provides an overview of the current status of MPHL genetic research. We discuss the most significant achievements, current challenges, and anticipated developments in the field, as well as their potential to advance our understanding of hair (loss) biology, and to improve hair loss prediction and treatment.

摘要男性型脱发(MPHL)是一种高度遗传和流行的疾病,其特征是额颞叶和头顶头皮进行性脱发。这种雄激素依赖性脱发可能在青春期开始,最多可达80 % 大多数欧洲男性一生中都会经历某种程度的MPHL。目前MPHL的治疗方案疗效有限,需要更好地了解潜在的生物学原因,以促进新的治疗方法。到目前为止,分子遗传学研究已经确定了389个相关的基因组区域,在这些区域中涉及许多基因,并提出了可能有助于MPHL关键病理生理机制的途径。本文综述了MPHL基因研究的现状。我们讨论了该领域最重要的成就、当前的挑战和预期的发展,以及它们在促进我们对脱发生物学的理解以及改善脱发预测和治疗方面的潜力。
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引用次数: 0
Genetic underpinnings of the psoriatic spectrum. 银屑病谱系的遗传基础
IF 1.1 4区 生物学 Q4 GENETICS & HEREDITY Pub Date : 2023-04-05 eCollection Date: 2023-04-01 DOI: 10.1515/medgen-2023-2005
Ulrike Hüffmeier, Janine Klima, Mohammad Deen Hayatu

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.

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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引用次数: 0
Holger Höhn zum 80. Geburtstag und der mühsame Beginn der Humangenetik in Würzburg vor mehr als 40 Jahren. 霍尔格·霍恩80岁。40多年前维尔茨堡的生日和人类遗传学的艰难开端
IF 1.1 4区 生物学 Q4 GENETICS & HEREDITY Pub Date : 2023-04-05 eCollection Date: 2023-04-01 DOI: 10.1515/medgen-2023-2001
Tiemo Grimm, Klaus Zerres
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引用次数: 0
Nachruf Prof. Dr. med. Eberhard Schwinger. Eberhard-Schwinger医学博士讣告
IF 1.1 4区 生物学 Q4 GENETICS & HEREDITY Pub Date : 2023-04-05 eCollection Date: 2023-04-01 DOI: 10.1515/medgen-2023-2002
Gabriele Gillessen-Kaesbach
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引用次数: 0
Syndromic ichthyoses. 综合征性鱼鳞病
IF 0.8 4区 生物学 Q4 GENETICS & HEREDITY Pub Date : 2023-04-05 eCollection Date: 2023-04-01 DOI: 10.1515/medgen-2023-2006
Judith Fischer, Alrun Hotz, Katalin Komlosi

Inherited ichthyoses are classified as Mendelian disorders of cornification (MEDOC), which are further defined on the basis of clinical and genetic features and can be divided into non-syndromic and syndromic forms. To date, mutations in more than 30 genes are known to result in various types of syndromic ichthyoses, which, in addition to mostly generalised scaling and hyperkeratosis of the skin, also show additional organ involvement. The syndromic ichthyoses are generally very rare and are classified based on the mode of inheritance, and can be further subdivided according to the predominant symptoms. In our review we provide a concise overview of the most prevalent syndromic forms of ichthyosis within each subgroup. We emphasize the importance of the clinical assessment of complex syndromes even in the era of genetic testing as a first-tier diagnostic and specifically the need to actively assess potential organ involvement in patients with ichthyosis, thereby enabling efficient diagnostic and therapeutic approaches and timely access to specialized centers for rare disorders of cornifications. As part of the Freiburg Center for Rare Diseases a Center for Cornification Disorders was recently established with collaboration of the Institute of Human Genetics and the Department of Dermatology. An early diagnosis of syndromes will be of direct benefit to the patient regarding interventional and therapeutic measures e. g. in syndromes with cardiac or metabolic involvement and allows informed reproductive options and access to prenatal and preimplantation genetic diagnosis in the family.

遗传性鱼鳞病被归类为孟德尔角化障碍(Mendelian disorders of cornification, MEDOC),在临床和遗传特征的基础上进一步定义,可分为非综合征型和综合征型。迄今为止,已知30多个基因的突变可导致各种类型的综合征性鱼鳞病,除了皮肤普遍起鳞和角化过度外,还表现出额外的器官受损伤。综合征型鱼鳞病通常非常罕见,根据遗传方式分类,并可根据主要症状进一步细分。在我们的回顾中,我们提供了每个亚组中最常见的鱼鳞病综合征形式的简明概述。我们强调复杂综合征的临床评估的重要性,即使在基因检测作为一级诊断的时代,特别是需要积极评估鱼鳞病患者潜在的器官累及,从而实现有效的诊断和治疗方法,并及时进入罕见的专业化中心。作为弗赖堡罕见病中心的一部分,最近在人类遗传学研究所和皮肤病学部门的合作下建立了一个锥体化疾病中心。综合征的早期诊断将直接有利于患者的介入和治疗措施,例如:在涉及心脏或代谢的综合征中,允许知情的生殖选择,并在家庭中获得产前和植入前遗传学诊断。
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引用次数: 0
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Medizinische Genetik
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