@article{08e2a0383f5244b39e3b898c9a6053f6,
title = "UVEOGENE: An SNP database for investigations on genetic factors associated with uveitis and their relationship with other systemic autoimmune diseases",
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 .",
keywords = "autoimmune disease, database, immune system pathways, single nucleotide polymorphism, uveitis, BEHCETS-DISEASE, POLYMORPHISMS, TNF, PROMOTER",
author = "Qingfeng Wang and Guannan Su and Xiao Tan and Jing Deng and Liping Du and Xinyue Huang and Meng Lv and Shenglan Yi and Shengping Hou and Aize Kijlstra and Peizeng Yang",
note = "Funding Information: This work was supported by National Key R&D Program of China (grant no. 2016YFC0904000), Natural Science Foundation Major International (Regional) Joint Research Project (grant no. 81720108009), Natural Science Major International (Regional) Joint Research Project (grant no. 81320108009), Natural Science Foundation Project of Chongqing (cstc2017shmsA130073), Chongqing Key Laboratory of Ophthalmology (grant no. CSTC, 2008CA5003), National Key Clinical Specialties Construction Program of China and Chongqing Science & Technology Platform and Base Construction Program (grant no. cstc2014pt-sy10002). Funding Information: informationThis work was supported by National Key R&D Program of China (grant no. 2016YFC0904000), Natural Science Foundation Major International (Regional) Joint Research Project (grant no. 81720108009), Natural Science Major International (Regional) Joint Research Project (grant no. 81320108009), Natural Science Foundation Project of Chongqing (cstc2017shmsA130073), Chongqing Key Laboratory of Ophthalmology (grant no. CSTC, 2008CA5003), National Key Clinical Specialties Construction Program of China and Chongqing Science & Technology Platform and Base Construction Program (grant no. cstc2014pt-sy10002).The authors thank Ziyu Du, Lin Chen, Liming Zhang, Wen Yuan, Xiaoxiao Cui, Yang Qin, Jing Xu, and Fanfan Huang for the data collecting and testing. Publisher Copyright: {\textcopyright} 2019 The Authors. Human Mutation published by Wiley Periodicals, Inc.",
year = "2019",
month = mar,
doi = "10.1002/humu.23702",
language = "English",
volume = "40",
pages = "258--266",
journal = "Human Mutation",
issn = "1059-7794",
publisher = "Wiley",
number = "3",
}