UVEOGENE: An SNP database for investigations on genetic factors associated with uveitis and their relationship with other systemic autoimmune diseases. Issue 3 (16th January 2019)

• Record Type: Journal Article
• Authors: Wang, Qingfeng; Su, Guannan; Tan, Xiao; Deng, Jing; Du, Liping; Huang, Xinyue; Lv, Meng; Yi, Shenglan; Hou, Shengping; Kijlstra, Aize; Yang, Peizeng
• Is Part Of: Human mutation. Volume 40:Issue 3(2019)
• Page Start: 258
• Page End: 266
• Publication Date: 2019-01-16
• Subjects: autoimmune disease -- database -- immune system pathways -- single nucleotide polymorphism -- uveitis; Human chromosome abnormalities -- Periodicals; Mutation (Biology) -- Periodicals; 616.04205
• DOI: 10.1002/humu.23702
• Languages: English
• ISSNs: 1059-7794

Abstract

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 athttp://www.uvogene.com . Abstract : We developed the first SNP database for uveitis, 'UVEOGENE', which is helpful and useful for researchers to investigate associations between SNPs and uveitis conveniently and to facilitate further genetic and molecular mechanism studies in this disease. 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.