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UVEOGENE:一个用于研究与葡萄膜炎相关的遗传因素及其与其他系统性自身免疫性疾病关系的 SNP 数据库。

UVEOGENE: An SNP database for investigations on genetic factors associated with uveitis and their relationship with other systemic autoimmune diseases.

机构信息

The First Affiliated Hospital of Chongqing Medical University, Chongqing Key Laboratory of Ophthalmology, and Chongqing Eye Institute, Chongqing, People's Republic of China.

University Eye Clinic Maastricht, Maastricht, The Netherlands.

出版信息

Hum Mutat. 2019 Mar;40(3):258-266. doi: 10.1002/humu.23702. Epub 2019 Jan 16.

Abstract

Uveitis is an intraocular inflammatory disease which can lead to serious visual impairment. Genetic factors have been shown to be involved in its development. However, few databases have focused on the information of associations between single nucleotide polymorphisms (SNPs) and uveitis. To discover the exact genetic background of uveitis, we developed an SNP database specific for uveitis, "UVEOGENE," which includes 370 genes and 918 SNPs covering 14 uveitis entities and 40 populations from 286 PubMed English-language papers. Stratification analyses by gender, HLA status, and different clinical features were also extracted from the publications. As a result, 371 associations were judged as "statistically significant." These associations were also shared with Global Variome shared Leiden Open Variation Database (LOVD) (https://databases.lovd.nl/shared/genes). Based on these associations, we investigated the genetic relationship among three widely studied uveitis entities including Behcet's disease (BD), Vogt-Koyanagi-Harada (VKH) disease, and acute anterior uveitis (AAU). Furthermore, "UVEOGENE" can be used as a reliable and informative resource to identify similarities as well as differences in the genetic susceptibility among uveitis and other autoimmune diseases. UVEOGENE is freely accessible at http://www.uvogene.com.

摘要

葡萄膜炎是一种眼内炎症性疾病,可导致严重的视力损害。已有研究表明,遗传因素与该病的发生有关。然而,目前很少有数据库专门关注单核苷酸多态性(SNP)与葡萄膜炎之间关联的信息。为了揭示葡萄膜炎的确切遗传背景,我们开发了一个专门针对葡萄膜炎的 SNP 数据库,名为“UVEOGENE”,其中包含 370 个基因和 918 个 SNP,涵盖了 14 种葡萄膜炎实体和来自 286 篇 PubMed 英文文献的 40 个人群。还从出版物中提取了按性别、HLA 状态和不同临床特征进行的分层分析。结果,371 种关联被判定为“具有统计学意义”。这些关联也与全球变异组共享莱顿开放变异数据库(LOVD)(https://databases.lovd.nl/shared/genes)共享。基于这些关联,我们研究了三种广泛研究的葡萄膜炎实体(包括贝切特病、Vogt-Koyanagi-Harada 病和急性前葡萄膜炎)之间的遗传关系。此外,“UVEOGENE”可用作可靠且信息丰富的资源,以识别葡萄膜炎和其他自身免疫性疾病之间遗传易感性的相似性和差异。UVEOGENE 可在 http://www.uvogene.com 免费获取。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8dfb/6590147/aaddfd3a3492/HUMU-40-258-g001.jpg

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