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系统性红斑狼疮中序列和拷贝数变异的基因检测

Genetic interrogation for sequence and copy number variants in systemic lupus erythematosus.

作者信息

Yeo Nicholas Kim-Wah, Lim Che Kang, Yaung Katherine Nay, Khoo Nicholas Kim Huat, Arkachaisri Thaschawee, Albani Salvatore, Yeo Joo Guan

机构信息

Translational Immunology Institute, SingHealth Duke-NUS Academic Medical Centre, Singapore, Singapore.

Duke-NUS Medical School, Singapore, Singapore.

出版信息

Front Genet. 2024 Mar 4;15:1341272. doi: 10.3389/fgene.2024.1341272. eCollection 2024.

Abstract

Early-onset systemic lupus erythematosus presents with a more severe disease and is associated with a greater genetic burden, especially in patients from Black, Asian or Hispanic ancestries. Next-generation sequencing techniques, notably whole exome sequencing, have been extensively used in genomic interrogation studies to identify causal disease variants that are increasingly implicated in the development of autoimmunity. This Review discusses the known casual variants of polygenic and monogenic systemic lupus erythematosus and its implications under certain genetic disparities while suggesting an age-based sequencing strategy to aid in clinical diagnostics and patient management for improved patient care.

摘要

早发性系统性红斑狼疮表现为病情更严重,且与更大的遗传负担相关,尤其是在具有黑人、亚洲或西班牙裔血统的患者中。下一代测序技术,特别是全外显子组测序,已广泛应用于基因组研究,以识别越来越多地与自身免疫性疾病发展相关的致病基因变异。本综述讨论了多基因和单基因系统性红斑狼疮的已知致病变异及其在特定遗传差异下的影响,同时提出了一种基于年龄的测序策略,以辅助临床诊断和患者管理,从而改善患者护理。

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