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An introduction to polygenic scores - methodological basics and recent advances. 介绍多基因评分-方法基础和最新进展。
IF 1.4 4区 生物学
Medizinische Genetik
Pub Date : 2026-07-08 eCollection Date: 2026-07-01 DOI: 10.1515/medgen-2026-3009
Hannah Klinkhammer, Andreas Mayr, Carlo Maj

Polygenic scores (PGS) allow the estimation of genetic predisposition to complex diseases and traits. Based on results from genome-wide association studies (GWAS) and data from large deeply phenotyped population biobanks, numerous PGS have been developed in recent years. These scores summarize the combined effects of many genetic variants and can support risk stratification for multifactorial diseases based on an individual's genetic susceptibility. In this review, we introduce the basic principles and methods of PGS and explain how they are generated and applied. We outline their potential translational role, particularly in the context of precision medicine and personalized risk stratification for preventive measures, in combination with established clinical risk factors. At the same time, we discuss important limitations, including limited generalizability across populations and the issue of missing heritability. Finally, we highlight current methodological developments and future perspectives for the integration of PGS into clinical practice.

多基因评分（PGS）允许对复杂疾病和性状的遗传易感性进行估计。基于全基因组关联研究（GWAS）的结果和来自大型深度表型群体生物库的数据，近年来开发了许多PGS。这些分数总结了许多遗传变异的综合影响，可以支持基于个体遗传易感性的多因素疾病的风险分层。本文介绍了PGS的基本原理和方法，阐述了PGS的产生和应用。我们概述了它们潜在的转化作用，特别是在精准医学和预防措施的个性化风险分层的背景下，结合已建立的临床风险因素。同时，我们还讨论了重要的局限性，包括有限的跨人群的普遍性和缺失的遗传性问题。最后，我们强调当前的方法学发展和未来的前景整合到临床实践的PGS。
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引用次数: 0
Polygenic risk scores in clinical applications - opportunities and challenges. 多基因风险评分在临床应用中的机遇与挑战。
IF 1.4 4区 生物学
Medizinische Genetik
Pub Date : 2026-07-08 eCollection Date: 2026-07-01 DOI: 10.1515/medgen-2026-3016
Johannes Schumacher, Markus M Nöthen, Stefanie Heilmann-Heimbach

Polygenic risk scores (PRS) are increasingly transitioning from research tools into instruments with direct clinical relevance. This review addresses both opportunities and challenges of PRS across disease contexts. Key applications include risk stratification in multifactorial and monogenic diseases, diagnostic support in etiologically heterogeneous disorders, and pharmacogenomic stratification. These are accompanied by substantial challenges, including limited transferability across diverse populations, insufficient methodological standardization, and barriers to effective risk communication. PRS hold considerable potential to contribute to a more individualized, predictive, and preventive medicine, provided that scientific rigor and responsibility guide their clinical translation.

多基因风险评分（PRS）正日益从研究工具转变为具有直接临床意义的仪器。本文综述了跨疾病背景下PRS的机遇和挑战。主要应用包括多因素和单基因疾病的风险分层，病因异质性疾病的诊断支持，以及药物基因组分层。这些都伴随着巨大的挑战，包括在不同人群之间的可转移性有限，方法标准化不足，以及有效风险沟通的障碍。PRS具有相当大的潜力，可以为更加个性化、预测性和预防性的医学做出贡献，前提是科学的严谨性和责任感指导其临床转化。
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引用次数: 0
Tagungsbericht der Tagungspräsidentin Prof. Dr. med. Juliane Winkelmann. 由医学博士教授主持。碰见的Juliane .
IF 1.4 4区 生物学
Medizinische Genetik
Pub Date : 2026-07-08 eCollection Date: 2026-07-01 DOI: 10.1515/medgen-2026-3002
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引用次数: 0
Medizinisch-Genetische Labordiagnostik, M.Sc. 医学遗传学实验室，理学硕士。
IF 1.4 4区 生物学
Medizinische Genetik
Pub Date : 2026-07-08 eCollection Date: 2026-07-01 DOI: 10.1515/medgen-2026-3020
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引用次数: 0
50 Jahre (und mehr) Humangenetik/Medizinische Genetik in Berlin. 50年的人类遗传学和医学遗传学在柏林。
IF 1.4 4区 生物学
Medizinische Genetik
Pub Date : 2026-07-08 eCollection Date: 2026-07-01 DOI: 10.1515/medgen-2026-3001
Stefan Mundlos, Malte Spielmann, Karl Sperling, Regine Witkowski
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引用次数: 0
Medizinisch-genetische Patient*innenversorgung in den sechs Zentren für Medizinische Genetik. 医学-遗传学患者*在六个医学遗传学中心的内部护理。
IF 1.4 4区 生物学
Medizinische Genetik
Pub Date : 2026-07-08 eCollection Date: 2026-07-01 DOI: 10.1515/medgen-2026-3017
Sarah Verheyen, Johannes Zschocke, Dominik Westphal
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引用次数: 0
Tagungsrückblick TGA 2026 Kiel. 检索2016-02-26。
IF 1.4 4区 生物学
Medizinische Genetik
Pub Date : 2026-07-08 eCollection Date: 2026-07-01 DOI: 10.1515/medgen-2026-3018
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引用次数: 0
Verleihung der GfH-Ehrenmedaille an Frau Prof. Dr. rer. nat. Gudrun Rappold: Laudatio von Prof. Dr. med. Christian Hübner, Institut für Humangenetik, Universitätsklinikum Jena, anlässlich der 36. GfH-Jahrestagung am 04.03.2026 in München. 他被授予荣誉博士学位。娜塔.拉波德教授，医学博士。Christian Hubner，人类遗传学研究所，耶拿大学医院，在第36届。GfH年会于2026年3月4日在慕尼黑举行。
IF 1.4 4区 生物学
Medizinische Genetik
Pub Date : 2026-07-08 eCollection Date: 2026-07-01 DOI: 10.1515/medgen-2026-3004
Christian A Hübner
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引用次数: 0
Polygenic risk scores in neurological disorders: restless legs syndrome as a translational model. 神经系统疾病的多基因风险评分：不宁腿综合征作为翻译模型。
IF 1.4 4区 生物学
Medizinische Genetik
Pub Date : 2026-07-08 eCollection Date: 2026-07-01 DOI: 10.1515/medgen-2026-3015
Juliane Winkelmann, Barbara Schormair

Polygenic risk scores (PRS) aggregate the effects of common genetic variants into a single metric of disease predisposition. Many neurological disorders exhibit a polygenic architecture, thereby providing a rationale for the application of PRS in risk prediction, biological subtyping, and stratification of patients to inform clinical decision-making. Here, we use restless legs syndrome (RLS) as an informative translational model to discuss both opportunities and current constraints of PRS use in neurology. RLS has a well-characterized polygenic component with 164 GWAS risk loci, a PRS with moderate case-control discrimination (AUC 0.73) when used alone, but showing potential for higher performance (AUC 0.82-0.91) in machine-learning models incorporating non-genetic variables. We discuss how multi-omics integration, PRS-based clinical subgrouping, and rare variant penetrance modification can advance PRS development and application in RLS and contextualize these developments within the wider landscape of PRS in neurological disorders.

多基因风险评分（PRS）将常见遗传变异的影响汇总为疾病易感性的单一指标。许多神经系统疾病表现出多基因结构，从而为PRS在风险预测、生物学分型和患者分层方面的应用提供了理论依据，从而为临床决策提供依据。在这里，我们使用不宁腿综合征（RLS）作为一个信息性的翻译模型来讨论PRS在神经病学中应用的机会和当前的限制。RLS具有表征良好的多基因成分，包含164个GWAS风险位点，单独使用时具有中等病例对照歧视的PRS (AUC 0.73)，但在纳入非遗传变量的机器学习模型中显示出更高的性能潜力（AUC 0.82-0.91）。我们讨论了多组学整合、基于PRS的临床亚群和罕见变异外显子修饰如何促进PRS在RLS中的发展和应用，并将这些发展置于更广泛的神经疾病PRS的背景下。
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引用次数: 0
Deep phenotyping using foetal MRI. 利用胎儿MRI进行深度表型分析。
IF 1.4 4区 生物学
Medizinische Genetik
Pub Date : 2026-04-16 eCollection Date: 2026-04-01 DOI: 10.1515/medgen-2026-2005
Gregor Kasprian, Christian Mitter, Philipp Moser
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引用次数: 0
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