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

Qingfeng Wang, Guannan Su, Xiao Tan, Jing Deng, Liping Du, Xinyue Huang, Meng Lv, Shenglan Yi, Shengping Hou, Aize Kijlstra, Peizeng Yang*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

9 Citations (Web of Science)

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) (). 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 .

Original languageEnglish
Pages (from-to)258-266
Number of pages9
JournalHuman Mutation
Volume40
Issue number3
DOIs
Publication statusPublished - Mar 2019

Keywords

  • autoimmune disease
  • database
  • immune system pathways
  • single nucleotide polymorphism
  • uveitis
  • BEHCETS-DISEASE
  • POLYMORPHISMS
  • TNF
  • PROMOTER

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