遗传性血管炎伴神经系统受累的发病机制。

Genetic Basis of Vasculitides with Neurologic Involvement.

机构信息

Departamento de Genética e Instituto de Biotecnología, Universidad de Granada, Granada, Spain.

Epidemiology, Genetics and Atherosclerosis Research Group on Systemic Inflammatory Diseases, Rheumatology Division, IDIVAL, Santander, Spain.

出版信息

Neurol Clin. 2019 May;37(2):219-234. doi: 10.1016/j.ncl.2019.01.006. Epub 2019 Mar 18.

DOI:10.1016/j.ncl.2019.01.006

PMID:30952406

Abstract

"Vasculitides are a heterogeneous group of inflammatory diseases of blood vessels in which genetic variation plays an important role in their susceptibility and clinical spectrum. Because of the use of novel technologies and the increase of the sample size of the study cohorts, the knowledge of the genetic background of vasculitides has considerably expanded during the last years. However, few insights have been obtained regarding the genetics underlying severe clinical phenotypes, such as those related to the nervous system. In this review the authors provide an updated overview of the genetic landscape behind vasculitis predisposition and development of neurologic manifestations."

摘要

血管炎是一组异质性的血管炎症性疾病，其中遗传变异在其易感性和临床谱中起着重要作用。由于新技术的应用和研究队列样本量的增加，近年来血管炎的遗传背景知识有了相当大的扩展。然而，对于严重临床表型（如与神经系统相关的表型）背后的遗传学，我们了解甚少。在这篇综述中，作者提供了血管炎易感性和神经系统表现发展背后的遗传图谱的最新概述。