Identification of Novel Risk Loci for Behçet's Disease–Related Uveitis in a Chinese Population in a Genome‐Wide Association Study
Objective To explore susceptibility loci associated with uveitis in Behçet's disease (BD). Methods We conducted a 2‐stage study, consisting of a genome‐wide association study (GWAS) stage and a replication stage, in a Chinese population. The GWAS stage included 978 cases with BD‐related uveitis...
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| Veröffentlicht in: | Arthritis & rheumatology (Hoboken, N.J.) N.J.), 2022-04, Vol.74 (4), p.671-681 |
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| creator | Su, Guannan Zhong, Zhenyu Zhou, Qingyun Du, Liping Ye, Zi Li, Fuzhen Zhuang, Wenjuan Wang, Chaokui Liang, Liang Ji, Yan Cao, Qingfeng Wang, Qingfeng Chang, Rui Tan, Handan Yi, Shenglan Li, Yujing Feng, Xiaojie Liao, Weiting Zhang, Wanyun Shu, Jia Tan, Shiyao Xu, Jing Pan, Su Li, Hongxi Shi, Jing Chen, Zhijun Zhu, Ying Ye, Xingsheng Tan, Xiao Zhang, Jun Liu, Zhangluxi Huang, Fanfan Yuan, Gangxiang Pang, Tingting Liu, Yizong Ding, Jiadong Gao, Yingnan Zhang, Meifen Chi, Wei Liu, Xiaoli Wang, Yuqin Chen, Ling Meguro, Akira Takeuchi, Masaki Mizuki, Nobuhisa Ohno, Shigeaki Zuo, Xianbo Kijlstra, Aize Yang, Peizeng |
| description | Objective
To explore susceptibility loci associated with uveitis in Behçet's disease (BD).
Methods
We conducted a 2‐stage study, consisting of a genome‐wide association study (GWAS) stage and a replication stage, in a Chinese population. The GWAS stage included 978 cases with BD‐related uveitis and 4,388 controls, and the replication stage included 953 cases with BD‐related uveitis and 2,129 controls. Luciferase reporter analysis and chromatin immunoprecipitation assay were performed to explore the functional role of susceptibility genetic variants near ZMIZ1.
Results
Three independent HLA alleles (HLA–B51 [3.75 × 10−190], HLA–A26 [1.50 × 10−18], and HLA–C0704 [3.44 × 10−16]) were identified as having a genome‐wide association with BD‐related uveitis. In the non‐HLA region, in addition to confirming 7 previously reported loci, we identified 22 novel susceptibility variants located in 16 loci. Meta‐analysis of the Chinese cohort consisting of 1,931 cases and 6,517 controls and a published Japanese cohort of 611 cases and 737 controls showed genome‐wide significant associations with ZMIZ1, RPS6KA4, IL10RA, SIPA1‐FIBP‐FOSL1, and VAMP1. Functional experiments demonstrated that genetic variants of ZMIZ1 were associated with enhanced transcription activity and increased expression of ZMIZ1.
Conclusion
This GWAS study identified a novel set of genetic variants that are associated with susceptibility to uveitis in BD. These findings enrich our understanding of the contribution of genetic factors to the disease. |
| doi_str_mv | 10.1002/art.41998 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_miscellaneous_2582809118</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>2642931255</sourcerecordid><originalsourceid>FETCH-LOGICAL-c4198-881ce409dd9c14f8b1461136d8b51aa3d251489b12d89a4ec40c0f0863e0c6293</originalsourceid><addsrcrecordid>eNp1kb9OHDEQh60IFBBQ5AWQpRSE4sDj9S52eVz4J52S6AJKafnsWWHYWx_r3UPXUVFHykPwILwJT4JhIUWkTOPRzOdPtn6EfAK2B4zxfdO0ewKUkh_IOs94Mcg5y1fee1CwRrZivGKp1AErWP6RrGWiSNRBtk7uzxzWrS-9Na0PNQ0l_RYWWNGJj9d0HKynZWjoIV4-PmC7E-lXH9FEfLr7M8HKtOjoxQJ96yP1NTV0dOlrjEh_hHlX9crX-QnWYZZu_f7lHdJhjMncr3-2nVtuktXSVBG33s4NcnF8dD46HYy_n5yNhuOBTV-UAynBomDKOWVBlHIKogDICienORiTOZ6DkGoK3EllBFrBLCuZLDJktuAq2yBfeu-8CTcdxlbPfLRYVabG0EXNc8klUwAyoZ__Qa9C19TpdZoXIrmA53midnvKNiHGBks9b_zMNEsNTL_ko1M--jWfxG6_GbvpDN1f8j2NBOz3wK2vcPl_kx5OznvlM6LQmyg</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>2642931255</pqid></control><display><type>article</type><title>Identification of Novel Risk Loci for Behçet's Disease–Related Uveitis in a Chinese Population in a Genome‐Wide Association Study</title><source>MEDLINE</source><source>Wiley Online Library Journals Frontfile Complete</source><source>Alma/SFX Local Collection</source><creator>Su, Guannan ; Zhong, Zhenyu ; Zhou, Qingyun ; Du, Liping ; Ye, Zi ; Li, Fuzhen ; Zhuang, Wenjuan ; Wang, Chaokui ; Liang, Liang ; Ji, Yan ; Cao, Qingfeng ; Wang, Qingfeng ; Chang, Rui ; Tan, Handan ; Yi, Shenglan ; Li, Yujing ; Feng, Xiaojie ; Liao, Weiting ; Zhang, Wanyun ; Shu, Jia ; Tan, Shiyao ; Xu, Jing ; Pan, Su ; Li, Hongxi ; Shi, Jing ; Chen, Zhijun ; Zhu, Ying ; Ye, Xingsheng ; Tan, Xiao ; Zhang, Jun ; Liu, Zhangluxi ; Huang, Fanfan ; Yuan, Gangxiang ; Pang, Tingting ; Liu, Yizong ; Ding, Jiadong ; Gao, Yingnan ; Zhang, Meifen ; Chi, Wei ; Liu, Xiaoli ; Wang, Yuqin ; Chen, Ling ; Meguro, Akira ; Takeuchi, Masaki ; Mizuki, Nobuhisa ; Ohno, Shigeaki ; Zuo, Xianbo ; Kijlstra, Aize ; Yang, Peizeng</creator><creatorcontrib>Su, Guannan ; Zhong, Zhenyu ; Zhou, Qingyun ; Du, Liping ; Ye, Zi ; Li, Fuzhen ; Zhuang, Wenjuan ; Wang, Chaokui ; Liang, Liang ; Ji, Yan ; Cao, Qingfeng ; Wang, Qingfeng ; Chang, Rui ; Tan, Handan ; Yi, Shenglan ; Li, Yujing ; Feng, Xiaojie ; Liao, Weiting ; Zhang, Wanyun ; Shu, Jia ; Tan, Shiyao ; Xu, Jing ; Pan, Su ; Li, Hongxi ; Shi, Jing ; Chen, Zhijun ; Zhu, Ying ; Ye, Xingsheng ; Tan, Xiao ; Zhang, Jun ; Liu, Zhangluxi ; Huang, Fanfan ; Yuan, Gangxiang ; Pang, Tingting ; Liu, Yizong ; Ding, Jiadong ; Gao, Yingnan ; Zhang, Meifen ; Chi, Wei ; Liu, Xiaoli ; Wang, Yuqin ; Chen, Ling ; Meguro, Akira ; Takeuchi, Masaki ; Mizuki, Nobuhisa ; Ohno, Shigeaki ; Zuo, Xianbo ; Kijlstra, Aize ; Yang, Peizeng</creatorcontrib><description>Objective
To explore susceptibility loci associated with uveitis in Behçet's disease (BD).
Methods
We conducted a 2‐stage study, consisting of a genome‐wide association study (GWAS) stage and a replication stage, in a Chinese population. The GWAS stage included 978 cases with BD‐related uveitis and 4,388 controls, and the replication stage included 953 cases with BD‐related uveitis and 2,129 controls. Luciferase reporter analysis and chromatin immunoprecipitation assay were performed to explore the functional role of susceptibility genetic variants near ZMIZ1.
Results
Three independent HLA alleles (HLA–B51 [3.75 × 10−190], HLA–A26 [1.50 × 10−18], and HLA–C0704 [3.44 × 10−16]) were identified as having a genome‐wide association with BD‐related uveitis. In the non‐HLA region, in addition to confirming 7 previously reported loci, we identified 22 novel susceptibility variants located in 16 loci. Meta‐analysis of the Chinese cohort consisting of 1,931 cases and 6,517 controls and a published Japanese cohort of 611 cases and 737 controls showed genome‐wide significant associations with ZMIZ1, RPS6KA4, IL10RA, SIPA1‐FIBP‐FOSL1, and VAMP1. Functional experiments demonstrated that genetic variants of ZMIZ1 were associated with enhanced transcription activity and increased expression of ZMIZ1.
Conclusion
This GWAS study identified a novel set of genetic variants that are associated with susceptibility to uveitis in BD. These findings enrich our understanding of the contribution of genetic factors to the disease.</description><identifier>ISSN: 2326-5191</identifier><identifier>EISSN: 2326-5205</identifier><identifier>DOI: 10.1002/art.41998</identifier><identifier>PMID: 34652073</identifier><language>eng</language><publisher>Boston, USA: Wiley Periodicals, Inc</publisher><subject>Asians - genetics ; Autoimmune diseases ; Behcet Syndrome - genetics ; Behcet's syndrome ; Carrier Proteins - genetics ; China ; Chromatin ; Genetic diversity ; Genetic factors ; Genetic variance ; Genome-wide association studies ; Genome-Wide Association Study ; Genomes ; Health risks ; Histocompatibility antigen HLA ; Humans ; Immunoprecipitation ; Interleukin 1 ; Loci ; Membrane Proteins - genetics ; Replication ; Susceptibility ; Transcription ; Uveitis ; Uveitis - genetics ; Vein & artery diseases</subject><ispartof>Arthritis & rheumatology (Hoboken, N.J.), 2022-04, Vol.74 (4), p.671-681</ispartof><rights>2021 American College of Rheumatology</rights><rights>2021 American College of Rheumatology.</rights><rights>2022 American College of Rheumatology</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c4198-881ce409dd9c14f8b1461136d8b51aa3d251489b12d89a4ec40c0f0863e0c6293</citedby><cites>FETCH-LOGICAL-c4198-881ce409dd9c14f8b1461136d8b51aa3d251489b12d89a4ec40c0f0863e0c6293</cites><orcidid>0000-0002-2647-6619</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1002%2Fart.41998$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1002%2Fart.41998$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,776,780,1411,27903,27904,45553,45554</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/34652073$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Su, Guannan</creatorcontrib><creatorcontrib>Zhong, Zhenyu</creatorcontrib><creatorcontrib>Zhou, Qingyun</creatorcontrib><creatorcontrib>Du, Liping</creatorcontrib><creatorcontrib>Ye, Zi</creatorcontrib><creatorcontrib>Li, Fuzhen</creatorcontrib><creatorcontrib>Zhuang, Wenjuan</creatorcontrib><creatorcontrib>Wang, Chaokui</creatorcontrib><creatorcontrib>Liang, Liang</creatorcontrib><creatorcontrib>Ji, Yan</creatorcontrib><creatorcontrib>Cao, Qingfeng</creatorcontrib><creatorcontrib>Wang, Qingfeng</creatorcontrib><creatorcontrib>Chang, Rui</creatorcontrib><creatorcontrib>Tan, Handan</creatorcontrib><creatorcontrib>Yi, Shenglan</creatorcontrib><creatorcontrib>Li, Yujing</creatorcontrib><creatorcontrib>Feng, Xiaojie</creatorcontrib><creatorcontrib>Liao, Weiting</creatorcontrib><creatorcontrib>Zhang, Wanyun</creatorcontrib><creatorcontrib>Shu, Jia</creatorcontrib><creatorcontrib>Tan, Shiyao</creatorcontrib><creatorcontrib>Xu, Jing</creatorcontrib><creatorcontrib>Pan, Su</creatorcontrib><creatorcontrib>Li, Hongxi</creatorcontrib><creatorcontrib>Shi, Jing</creatorcontrib><creatorcontrib>Chen, Zhijun</creatorcontrib><creatorcontrib>Zhu, Ying</creatorcontrib><creatorcontrib>Ye, Xingsheng</creatorcontrib><creatorcontrib>Tan, Xiao</creatorcontrib><creatorcontrib>Zhang, Jun</creatorcontrib><creatorcontrib>Liu, Zhangluxi</creatorcontrib><creatorcontrib>Huang, Fanfan</creatorcontrib><creatorcontrib>Yuan, Gangxiang</creatorcontrib><creatorcontrib>Pang, Tingting</creatorcontrib><creatorcontrib>Liu, Yizong</creatorcontrib><creatorcontrib>Ding, Jiadong</creatorcontrib><creatorcontrib>Gao, Yingnan</creatorcontrib><creatorcontrib>Zhang, Meifen</creatorcontrib><creatorcontrib>Chi, Wei</creatorcontrib><creatorcontrib>Liu, Xiaoli</creatorcontrib><creatorcontrib>Wang, Yuqin</creatorcontrib><creatorcontrib>Chen, Ling</creatorcontrib><creatorcontrib>Meguro, Akira</creatorcontrib><creatorcontrib>Takeuchi, Masaki</creatorcontrib><creatorcontrib>Mizuki, Nobuhisa</creatorcontrib><creatorcontrib>Ohno, Shigeaki</creatorcontrib><creatorcontrib>Zuo, Xianbo</creatorcontrib><creatorcontrib>Kijlstra, Aize</creatorcontrib><creatorcontrib>Yang, Peizeng</creatorcontrib><title>Identification of Novel Risk Loci for Behçet's Disease–Related Uveitis in a Chinese Population in a Genome‐Wide Association Study</title><title>Arthritis & rheumatology (Hoboken, N.J.)</title><addtitle>Arthritis Rheumatol</addtitle><description>Objective
To explore susceptibility loci associated with uveitis in Behçet's disease (BD).
Methods
We conducted a 2‐stage study, consisting of a genome‐wide association study (GWAS) stage and a replication stage, in a Chinese population. The GWAS stage included 978 cases with BD‐related uveitis and 4,388 controls, and the replication stage included 953 cases with BD‐related uveitis and 2,129 controls. Luciferase reporter analysis and chromatin immunoprecipitation assay were performed to explore the functional role of susceptibility genetic variants near ZMIZ1.
Results
Three independent HLA alleles (HLA–B51 [3.75 × 10−190], HLA–A26 [1.50 × 10−18], and HLA–C0704 [3.44 × 10−16]) were identified as having a genome‐wide association with BD‐related uveitis. In the non‐HLA region, in addition to confirming 7 previously reported loci, we identified 22 novel susceptibility variants located in 16 loci. Meta‐analysis of the Chinese cohort consisting of 1,931 cases and 6,517 controls and a published Japanese cohort of 611 cases and 737 controls showed genome‐wide significant associations with ZMIZ1, RPS6KA4, IL10RA, SIPA1‐FIBP‐FOSL1, and VAMP1. Functional experiments demonstrated that genetic variants of ZMIZ1 were associated with enhanced transcription activity and increased expression of ZMIZ1.
Conclusion
This GWAS study identified a novel set of genetic variants that are associated with susceptibility to uveitis in BD. These findings enrich our understanding of the contribution of genetic factors to the disease.</description><subject>Asians - genetics</subject><subject>Autoimmune diseases</subject><subject>Behcet Syndrome - genetics</subject><subject>Behcet's syndrome</subject><subject>Carrier Proteins - genetics</subject><subject>China</subject><subject>Chromatin</subject><subject>Genetic diversity</subject><subject>Genetic factors</subject><subject>Genetic variance</subject><subject>Genome-wide association studies</subject><subject>Genome-Wide Association Study</subject><subject>Genomes</subject><subject>Health risks</subject><subject>Histocompatibility antigen HLA</subject><subject>Humans</subject><subject>Immunoprecipitation</subject><subject>Interleukin 1</subject><subject>Loci</subject><subject>Membrane Proteins - genetics</subject><subject>Replication</subject><subject>Susceptibility</subject><subject>Transcription</subject><subject>Uveitis</subject><subject>Uveitis - genetics</subject><subject>Vein & artery diseases</subject><issn>2326-5191</issn><issn>2326-5205</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2022</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp1kb9OHDEQh60IFBBQ5AWQpRSE4sDj9S52eVz4J52S6AJKafnsWWHYWx_r3UPXUVFHykPwILwJT4JhIUWkTOPRzOdPtn6EfAK2B4zxfdO0ewKUkh_IOs94Mcg5y1fee1CwRrZivGKp1AErWP6RrGWiSNRBtk7uzxzWrS-9Na0PNQ0l_RYWWNGJj9d0HKynZWjoIV4-PmC7E-lXH9FEfLr7M8HKtOjoxQJ96yP1NTV0dOlrjEh_hHlX9crX-QnWYZZu_f7lHdJhjMncr3-2nVtuktXSVBG33s4NcnF8dD46HYy_n5yNhuOBTV-UAynBomDKOWVBlHIKogDICienORiTOZ6DkGoK3EllBFrBLCuZLDJktuAq2yBfeu-8CTcdxlbPfLRYVabG0EXNc8klUwAyoZ__Qa9C19TpdZoXIrmA53midnvKNiHGBks9b_zMNEsNTL_ko1M--jWfxG6_GbvpDN1f8j2NBOz3wK2vcPl_kx5OznvlM6LQmyg</recordid><startdate>202204</startdate><enddate>202204</enddate><creator>Su, Guannan</creator><creator>Zhong, Zhenyu</creator><creator>Zhou, Qingyun</creator><creator>Du, Liping</creator><creator>Ye, Zi</creator><creator>Li, Fuzhen</creator><creator>Zhuang, Wenjuan</creator><creator>Wang, Chaokui</creator><creator>Liang, Liang</creator><creator>Ji, Yan</creator><creator>Cao, Qingfeng</creator><creator>Wang, Qingfeng</creator><creator>Chang, Rui</creator><creator>Tan, Handan</creator><creator>Yi, Shenglan</creator><creator>Li, Yujing</creator><creator>Feng, Xiaojie</creator><creator>Liao, Weiting</creator><creator>Zhang, Wanyun</creator><creator>Shu, Jia</creator><creator>Tan, Shiyao</creator><creator>Xu, Jing</creator><creator>Pan, Su</creator><creator>Li, Hongxi</creator><creator>Shi, Jing</creator><creator>Chen, Zhijun</creator><creator>Zhu, Ying</creator><creator>Ye, Xingsheng</creator><creator>Tan, Xiao</creator><creator>Zhang, Jun</creator><creator>Liu, Zhangluxi</creator><creator>Huang, Fanfan</creator><creator>Yuan, Gangxiang</creator><creator>Pang, Tingting</creator><creator>Liu, Yizong</creator><creator>Ding, Jiadong</creator><creator>Gao, Yingnan</creator><creator>Zhang, Meifen</creator><creator>Chi, Wei</creator><creator>Liu, Xiaoli</creator><creator>Wang, Yuqin</creator><creator>Chen, Ling</creator><creator>Meguro, Akira</creator><creator>Takeuchi, Masaki</creator><creator>Mizuki, Nobuhisa</creator><creator>Ohno, Shigeaki</creator><creator>Zuo, Xianbo</creator><creator>Kijlstra, Aize</creator><creator>Yang, Peizeng</creator><general>Wiley Periodicals, Inc</general><general>Wiley Subscription Services, Inc</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7QL</scope><scope>7QP</scope><scope>7T5</scope><scope>7TM</scope><scope>7U7</scope><scope>C1K</scope><scope>H94</scope><scope>K9.</scope><scope>7X8</scope><orcidid>https://orcid.org/0000-0002-2647-6619</orcidid></search><sort><creationdate>202204</creationdate><title>Identification of Novel Risk Loci for Behçet's Disease–Related Uveitis in a Chinese Population in a Genome‐Wide Association Study</title><author>Su, Guannan ; Zhong, Zhenyu ; Zhou, Qingyun ; Du, Liping ; Ye, Zi ; Li, Fuzhen ; Zhuang, Wenjuan ; Wang, Chaokui ; Liang, Liang ; Ji, Yan ; Cao, Qingfeng ; Wang, Qingfeng ; Chang, Rui ; Tan, Handan ; Yi, Shenglan ; Li, Yujing ; Feng, Xiaojie ; Liao, Weiting ; Zhang, Wanyun ; Shu, Jia ; Tan, Shiyao ; Xu, Jing ; Pan, Su ; Li, Hongxi ; Shi, Jing ; Chen, Zhijun ; Zhu, Ying ; Ye, Xingsheng ; Tan, Xiao ; Zhang, Jun ; Liu, Zhangluxi ; Huang, Fanfan ; Yuan, Gangxiang ; Pang, Tingting ; Liu, Yizong ; Ding, Jiadong ; Gao, Yingnan ; Zhang, Meifen ; Chi, Wei ; Liu, Xiaoli ; Wang, Yuqin ; Chen, Ling ; Meguro, Akira ; Takeuchi, Masaki ; Mizuki, Nobuhisa ; Ohno, Shigeaki ; Zuo, Xianbo ; Kijlstra, Aize ; Yang, Peizeng</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4198-881ce409dd9c14f8b1461136d8b51aa3d251489b12d89a4ec40c0f0863e0c6293</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2022</creationdate><topic>Asians - genetics</topic><topic>Autoimmune diseases</topic><topic>Behcet Syndrome - genetics</topic><topic>Behcet's syndrome</topic><topic>Carrier Proteins - genetics</topic><topic>China</topic><topic>Chromatin</topic><topic>Genetic diversity</topic><topic>Genetic factors</topic><topic>Genetic variance</topic><topic>Genome-wide association studies</topic><topic>Genome-Wide Association Study</topic><topic>Genomes</topic><topic>Health risks</topic><topic>Histocompatibility antigen HLA</topic><topic>Humans</topic><topic>Immunoprecipitation</topic><topic>Interleukin 1</topic><topic>Loci</topic><topic>Membrane Proteins - genetics</topic><topic>Replication</topic><topic>Susceptibility</topic><topic>Transcription</topic><topic>Uveitis</topic><topic>Uveitis - genetics</topic><topic>Vein & artery diseases</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Su, Guannan</creatorcontrib><creatorcontrib>Zhong, Zhenyu</creatorcontrib><creatorcontrib>Zhou, Qingyun</creatorcontrib><creatorcontrib>Du, Liping</creatorcontrib><creatorcontrib>Ye, Zi</creatorcontrib><creatorcontrib>Li, Fuzhen</creatorcontrib><creatorcontrib>Zhuang, Wenjuan</creatorcontrib><creatorcontrib>Wang, Chaokui</creatorcontrib><creatorcontrib>Liang, Liang</creatorcontrib><creatorcontrib>Ji, Yan</creatorcontrib><creatorcontrib>Cao, Qingfeng</creatorcontrib><creatorcontrib>Wang, Qingfeng</creatorcontrib><creatorcontrib>Chang, Rui</creatorcontrib><creatorcontrib>Tan, Handan</creatorcontrib><creatorcontrib>Yi, Shenglan</creatorcontrib><creatorcontrib>Li, Yujing</creatorcontrib><creatorcontrib>Feng, Xiaojie</creatorcontrib><creatorcontrib>Liao, Weiting</creatorcontrib><creatorcontrib>Zhang, Wanyun</creatorcontrib><creatorcontrib>Shu, Jia</creatorcontrib><creatorcontrib>Tan, Shiyao</creatorcontrib><creatorcontrib>Xu, Jing</creatorcontrib><creatorcontrib>Pan, Su</creatorcontrib><creatorcontrib>Li, Hongxi</creatorcontrib><creatorcontrib>Shi, Jing</creatorcontrib><creatorcontrib>Chen, Zhijun</creatorcontrib><creatorcontrib>Zhu, Ying</creatorcontrib><creatorcontrib>Ye, Xingsheng</creatorcontrib><creatorcontrib>Tan, Xiao</creatorcontrib><creatorcontrib>Zhang, Jun</creatorcontrib><creatorcontrib>Liu, Zhangluxi</creatorcontrib><creatorcontrib>Huang, Fanfan</creatorcontrib><creatorcontrib>Yuan, Gangxiang</creatorcontrib><creatorcontrib>Pang, Tingting</creatorcontrib><creatorcontrib>Liu, Yizong</creatorcontrib><creatorcontrib>Ding, Jiadong</creatorcontrib><creatorcontrib>Gao, Yingnan</creatorcontrib><creatorcontrib>Zhang, Meifen</creatorcontrib><creatorcontrib>Chi, Wei</creatorcontrib><creatorcontrib>Liu, Xiaoli</creatorcontrib><creatorcontrib>Wang, Yuqin</creatorcontrib><creatorcontrib>Chen, Ling</creatorcontrib><creatorcontrib>Meguro, Akira</creatorcontrib><creatorcontrib>Takeuchi, Masaki</creatorcontrib><creatorcontrib>Mizuki, Nobuhisa</creatorcontrib><creatorcontrib>Ohno, Shigeaki</creatorcontrib><creatorcontrib>Zuo, Xianbo</creatorcontrib><creatorcontrib>Kijlstra, Aize</creatorcontrib><creatorcontrib>Yang, Peizeng</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Bacteriology Abstracts (Microbiology B)</collection><collection>Calcium & Calcified Tissue Abstracts</collection><collection>Immunology Abstracts</collection><collection>Nucleic Acids Abstracts</collection><collection>Toxicology Abstracts</collection><collection>Environmental Sciences and Pollution Management</collection><collection>AIDS and Cancer Research Abstracts</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>MEDLINE - Academic</collection><jtitle>Arthritis & rheumatology (Hoboken, N.J.)</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Su, Guannan</au><au>Zhong, Zhenyu</au><au>Zhou, Qingyun</au><au>Du, Liping</au><au>Ye, Zi</au><au>Li, Fuzhen</au><au>Zhuang, Wenjuan</au><au>Wang, Chaokui</au><au>Liang, Liang</au><au>Ji, Yan</au><au>Cao, Qingfeng</au><au>Wang, Qingfeng</au><au>Chang, Rui</au><au>Tan, Handan</au><au>Yi, Shenglan</au><au>Li, Yujing</au><au>Feng, Xiaojie</au><au>Liao, Weiting</au><au>Zhang, Wanyun</au><au>Shu, Jia</au><au>Tan, Shiyao</au><au>Xu, Jing</au><au>Pan, Su</au><au>Li, Hongxi</au><au>Shi, Jing</au><au>Chen, Zhijun</au><au>Zhu, Ying</au><au>Ye, Xingsheng</au><au>Tan, Xiao</au><au>Zhang, Jun</au><au>Liu, Zhangluxi</au><au>Huang, Fanfan</au><au>Yuan, Gangxiang</au><au>Pang, Tingting</au><au>Liu, Yizong</au><au>Ding, Jiadong</au><au>Gao, Yingnan</au><au>Zhang, Meifen</au><au>Chi, Wei</au><au>Liu, Xiaoli</au><au>Wang, Yuqin</au><au>Chen, Ling</au><au>Meguro, Akira</au><au>Takeuchi, Masaki</au><au>Mizuki, Nobuhisa</au><au>Ohno, Shigeaki</au><au>Zuo, Xianbo</au><au>Kijlstra, Aize</au><au>Yang, Peizeng</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Identification of Novel Risk Loci for Behçet's Disease–Related Uveitis in a Chinese Population in a Genome‐Wide Association Study</atitle><jtitle>Arthritis & rheumatology (Hoboken, N.J.)</jtitle><addtitle>Arthritis Rheumatol</addtitle><date>2022-04</date><risdate>2022</risdate><volume>74</volume><issue>4</issue><spage>671</spage><epage>681</epage><pages>671-681</pages><issn>2326-5191</issn><eissn>2326-5205</eissn><abstract>Objective
To explore susceptibility loci associated with uveitis in Behçet's disease (BD).
Methods
We conducted a 2‐stage study, consisting of a genome‐wide association study (GWAS) stage and a replication stage, in a Chinese population. The GWAS stage included 978 cases with BD‐related uveitis and 4,388 controls, and the replication stage included 953 cases with BD‐related uveitis and 2,129 controls. Luciferase reporter analysis and chromatin immunoprecipitation assay were performed to explore the functional role of susceptibility genetic variants near ZMIZ1.
Results
Three independent HLA alleles (HLA–B51 [3.75 × 10−190], HLA–A26 [1.50 × 10−18], and HLA–C0704 [3.44 × 10−16]) were identified as having a genome‐wide association with BD‐related uveitis. In the non‐HLA region, in addition to confirming 7 previously reported loci, we identified 22 novel susceptibility variants located in 16 loci. Meta‐analysis of the Chinese cohort consisting of 1,931 cases and 6,517 controls and a published Japanese cohort of 611 cases and 737 controls showed genome‐wide significant associations with ZMIZ1, RPS6KA4, IL10RA, SIPA1‐FIBP‐FOSL1, and VAMP1. Functional experiments demonstrated that genetic variants of ZMIZ1 were associated with enhanced transcription activity and increased expression of ZMIZ1.
Conclusion
This GWAS study identified a novel set of genetic variants that are associated with susceptibility to uveitis in BD. These findings enrich our understanding of the contribution of genetic factors to the disease.</abstract><cop>Boston, USA</cop><pub>Wiley Periodicals, Inc</pub><pmid>34652073</pmid><doi>10.1002/art.41998</doi><tpages>11</tpages><orcidid>https://orcid.org/0000-0002-2647-6619</orcidid></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 2326-5191 |
| ispartof | Arthritis & rheumatology (Hoboken, N.J.), 2022-04, Vol.74 (4), p.671-681 |
| issn | 2326-5191 2326-5205 |
| language | eng |
| recordid | cdi_proquest_miscellaneous_2582809118 |
| source | MEDLINE; Wiley Online Library Journals Frontfile Complete; Alma/SFX Local Collection |
| subjects | Asians - genetics Autoimmune diseases Behcet Syndrome - genetics Behcet's syndrome Carrier Proteins - genetics China Chromatin Genetic diversity Genetic factors Genetic variance Genome-wide association studies Genome-Wide Association Study Genomes Health risks Histocompatibility antigen HLA Humans Immunoprecipitation Interleukin 1 Loci Membrane Proteins - genetics Replication Susceptibility Transcription Uveitis Uveitis - genetics Vein & artery diseases |
| title | Identification of Novel Risk Loci for Behçet's Disease–Related Uveitis in a Chinese Population in a Genome‐Wide Association Study |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-01-22T07%3A54%3A13IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest_cross&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Identification%20of%20Novel%20Risk%20Loci%20for%20Beh%C3%A7et's%20Disease%E2%80%93Related%20Uveitis%20in%20a%20Chinese%20Population%20in%20a%20Genome%E2%80%90Wide%20Association%20Study&rft.jtitle=Arthritis%20&%20rheumatology%20(Hoboken,%20N.J.)&rft.au=Su,%20Guannan&rft.date=2022-04&rft.volume=74&rft.issue=4&rft.spage=671&rft.epage=681&rft.pages=671-681&rft.issn=2326-5191&rft.eissn=2326-5205&rft_id=info:doi/10.1002/art.41998&rft_dat=%3Cproquest_cross%3E2642931255%3C/proquest_cross%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=2642931255&rft_id=info:pmid/34652073&rfr_iscdi=true |