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贝赫切特病的免疫遗传学。

The Immunogenetics of Behcet's Disease.

机构信息

Department of Dermatology, Mersin University, Mersin, Turkey.

出版信息

Adv Exp Med Biol. 2022;1367:335-347. doi: 10.1007/978-3-030-92616-8_12.

Abstract

Behcet's disease (BD) is an autoimmune disorder that affects the blood vessels and thus could entangle virtually every organ of the body. Oral ulceration, genital aphthous lesions, and ocular inflammation are the main manifestations of the disease that tend to have a chronic, relapsing-remitting course. The disease comes from an association between environmental and genetic backgrounds. The clustering of cases in families and the high rate of co-occurrence of the disease in siblings were the initial findings that proposed a genetic basis for BD. Later on, multiple case-control studies and genome-wide association studies were able to clarify particular genes included in the etiopathogenesis of BD. The major gene polymorphisms include HLA and HLA-related genes, interleukins, and other genes involved in inflammation and transcription activation. Herein we have summarized the susceptibility genes that are associated with BD. Investigations on the genetics of BD could potentially clarify the disease pathogenesis and provide insights for the development of better treatments.

摘要

贝赫切特病(BD)是一种自身免疫性疾病,可累及血管,从而可能累及身体的几乎每个器官。口腔溃疡、生殖器口疮性病变和眼部炎症是该病的主要表现,该病具有慢性、复发性病程。该病源于环境和遗传背景之间的关联。病例在家庭中的聚集以及该病在兄弟姐妹中的高发生率,最初提出了 BD 的遗传基础。后来,多项病例对照研究和全基因组关联研究能够阐明 BD 发病机制中包含的特定基因。主要的基因多态性包括 HLA 和 HLA 相关基因、白细胞介素以及其他参与炎症和转录激活的基因。本文总结了与 BD 相关的易感基因。对 BD 遗传学的研究可能有助于阐明疾病发病机制,并为开发更好的治疗方法提供思路。

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