Epigenome-wide association study identifies Vogt-Koyanagi-Harada disease-associated DNA methylation loci in Chinese

作者全名："Su, Guannan; Du, Liping; Yu, Hongsong; Li, Minghui; Huang, Ruocheng; Yang, Xiaonan; Wang, Detao; Wang, Qing; Yang, Peizeng"

作者地址："[Su, Guannan; Yu, Hongsong; Yang, Peizeng] Chongqing Med Univ, Affiliated Hosp 1, Natl Clin Res Ctr Ocular Dis, Chongqing Key Lab Ophthalmol,Chongqing Eye Inst,Ch, Chongqing, Peoples R China; [Du, Liping] Zhengzhou Univ, Affiliated Hosp 1, Dept Ophthalmol, Henan Prov Eye Hosp,Henan Int Joint Res Lab Ocular, Zhengzhou, Peoples R China; [Li, Minghui; Huang, Ruocheng; Yang, Xiaonan] Sinotech Genom Ltd, Shanghai 210000, Peoples R China; [Wang, Detao; Wang, Qing] Shanghai Biotechnol Corp, Shanghai, Peoples R China"

通信作者："Yang, PZ (通讯作者)，Chongqing Med Univ, Affiliated Hosp 1, Natl Clin Res Ctr Ocular Dis, Chongqing Key Lab Ophthalmol,Chongqing Eye Inst,Ch, Chongqing, Peoples R China."

来源：EXPERIMENTAL EYE RESEARCH

ESI学科分类：CLINICAL MEDICINE

WOS号：WOS:001032470700001

JCR分区：Q1

影响因子：3

年份：2023

卷号：233

期号：　

开始页：　

结束页：　

文献类型：Article

关键词：VKH; Epigenome-wide association study; Methylation; BTNL2; HLA-DRB1

摘要："DNA methylation is one of the important epigenetic mechanisms for modulating gene expression. By performing a genome-wide methylation association analysis of whole peripheral blood from 60 Vogt-Koyanagi-Harada disease (VKH) patients and 60 healthy controls, we depicted the global DNA methylation status of VKH disease. Further pyrosequencing validation in 160 patients and 159 controls identified 3 aberrant CpG sites in HLA gene regions including cg04026937 and cg18052547 (located in HLA-DRB1 region), and cg13778567 (HLADQA1). We also identified 9 aberrant CpG sites in non-HLA gene regions including cg13979407, cg21075643, cg24290586, cg10135747 and cg22707857 (BTNL2), cg22155039 (NOTCH4), cg02605387 (TNXB), cg06255004 (AGPAT2) and cg18855195 (RIBC2). Increased mRNA levels of BTNL2, NOTCH4 and TNXB were identified in VKH patients when compared with healthy controls, consistent with the hypomethylated CpG status in these gene regions. Moreover, seven aberrantly methylated CpG sites may serve as a diagnostic marker for VKH disease (AUC = 84.95%, 95%CI: 79.49%-90.41%)."

基金机构：National Natural Science Foundation Key Program [82230032]; National Natural Science Foundation Project [82271077]; Key Project of Chongqing Science and Technology Bureau [CSTC2021jscx-gksb-N0010]; Chongqing Outstanding Scientists Project; Chongqing Chief Medical Scientist Project; Chongqing Key Laboratory of Ophthalmology (CSTC) [cstc2014pt-sy10002]; Chongqing Science amp; Technology Platform and Base Construction Program [81930023]; [2008CA5003]

基金资助正文："This study was supported by National Natural Science Foundation Key Program (81930023) , National Natural Science Foundation Key Program (82230032) , National Natural Science Foundation Project (82271077) , Key Project of Chongqing Science and Technology Bureau (CSTC2021jscx-gksb-N0010) , Chongqing Outstanding Scientists Project (2019) , the Chongqing Chief Medical Scientist Project (2018) , Chongqing Key Laboratory of Ophthalmology (CSTC, 2008CA5003) and Chongqing Science & amp; Technology Platform and Base Construction Program (cstc2014pt-sy10002) ."