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GWAS of Chronic Spontaneous Urticaria Reveals Genetic Overlap with Autoimmune Diseases, Not Atopic Diseases

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收录情况： ◇ SCIE

作者：
Zhang Liming[1] * ; Qiu Li[1] ; Wu Jian[1] ; Qi Yumeng[1] ; Gao Xinghua[1] ; He Chundi[1] ; Qi Ruiqun[1] ; Wang Hexiao[1] ; Yao Xu[2] ; Zhu Hong[2] ; Li Yuzhen[3] ; Hao Siyu[3] ; Lu Qianjin[4] ; Long Hai[4] ; Lian Shi[5] ; Zhu Wei[5] ; Zhang Haiping[5] ; Lai Wei[6] ; Su Xiangyang[6] ; Lu Rongbiao[6] ; Guo Zaipei[7] ; Li Jingyi[7] ; Li Mengmeng[7] ; Liu Quanzhong[8] ; Wang Huiping[8] ; He Li[9] ; Nong Xiang[9] ; Li Fuqiu[10] ; Li Yang[10] ; Yao Chunli[10] ; Xu Jinhua[11] ; Tang Hui[11] ; Wang Duoqin[11] ; Li Zhenlu[12] ; Yu Huiqian[12] ; Xiao Shengxiang[13] ; An Jingang[13] ; Pu Xiongming[14] ; Yu Shirong[14] ; Zhang Jianzhong[15] ; Chen Xue[15] ; Wang Haifeng[16] ; Huang Wei[16] ; Chen Hongduo[1] ; Xiao Ting[1,*1] ;
机构： [1]Department of Dermatology, The First Hospital of China MedicalUniversity, National Health Commission Key Laboratory of Immunodermatology, Key Laboratory of Immunodermatology of Ministry ofEducation, Shenyang, China [2]Department of Allergy and Rheumatology,Hospital for Skin Diseases, Institute of Dermatology, Chinese Academy ofMedical Sciences and Peking Union Medical College, Nanjing, China [3]Department of Dermatology, The Second Affiliated Hospital of Harbin Medical University, Harbin, China [4]Department of Dermatology, The Second Xiangya Hospital of Central South University, Changsha, China [5]Department of Dermatology, Xuan Wu Hospital Capital Medical Univerisity, Beijing, China [6]Department of Dermatology, The Third Affiliated Hospital of Sun Yat-Sen University, Guangzhou, China [7]Department of Dermatology, West China Hospital, Sichuan University,Chengdu, China [8]Department of Dermatology, Tianjin Medical University General Hospital, Tianjin, China [9]Department of Dermatology, First Affiliated Hospital of Kunming Medical University, Kunming, China [10]Department of Dermatology, The Second Hospital of Jilin University,Changchun, China [11]Department of Dermatology, Huashan Hospital,Fudan Univeristy, Shanghai, China [12]Department of Dermatology, Henan Provincial People’s Hospital, Zhengzhou, China [13]Department of Dermatology, The Second Affiliated Hospital, School of Medicine, Xi’anJiaotong University, Xi’an, China [14]Department of Dermatology, People’s Hospital of Xinjiang Uygur Autonomous Region, Xinjiang Key Laboratory ofDermatology Research (XJYS1707), Xinjiang, China [15]Department of Dermatology, Peking University People’s Hospital, Beijing, China [16]Department of Genetics, Shanghai-MOST Key Laboratory of Health and Disease Genomics, Chinese National Human Genome Center at Shanghai(CHGC), Shanghai Institute for Biomedical and Pharmaceutical Technologies (SIBPT), Shanghai, China
出处：
DOI： 10.1016/j.jid.2022.07.012
ISSN：

摘要：
Although chronic spontaneous urticaria (CSU) is a common disease, genome-wide association studies (GWASs) of CSU are lacking. We aimed to identify susceptibility single-nucleotide polymorphism (SNPs) by performing to our knowledge previously unreported GWAS in Chinese Han adults with CSU. The discovery cohort included 430 CSU cases and 482 healthy controls. The GWAS findings were validated in 800 CSU cases and 900 healthy controls. Genetic, functional enrichment and bioinformatic analyses of genome-wide significant SNPs were performed to assess association between CSU and autoimmunity or atopy. Five genome-wide significant SNPs were identified: rs434124/LILRA3, rs61986182/IGHG1/2, rs73075571/TDGF1, rs9378141/HLA-G and rs3789612/PTPN22. The first 4 SNPs were in linkage disequilibrium with autoimmune-related diseases-associated SNPs and were cis expression quantitative trait loci in immune cells. The 5 SNPs-annotated genes were significantly enriched in immune processes. Higher polygenic risk scores, allele frequencies of rs3789612*T, rs9378141*C and rs73075571*G were significantly associated with autoimmune-related CSU phenotypes including positive anti-thyroglobulin IgG, positive anti-FcεRIα IgG, total IgE < 40 IU/mL and positive anti-thyroid peroxidase IgG, not with atopic or allergic sensitized CSU phenotypes. This GWAS of CSU identifies 5 risk loci and reveals that CSU shares genetic overlap with autoimmune diseases and that genetic factors predisposing to CSU mainly manifest through associations with autoimmune traits.Copyright © 2022 The Authors. Published by Elsevier Inc. All rights reserved.

基金：
This work was supported by the National Key Clinical Specialist Subject Construction Project on Urticaria from National Health Commission, China ([2012]649).

基金编号： 2012

语种：
外文
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出版当年[2023]版：
大类 | 2 区 医学
小类 | 2 区 皮肤病学
最新[2023]版：
大类 | 2 区 医学
小类 | 2 区 皮肤病学
JCR分区：
出版当年[2022]版：
Q1 DERMATOLOGY
最新[2023]版：
Q1 DERMATOLOGY

影响因子： 最新[2023版] 最新五年平均 出版当年[2022版] 出版当年五年平均 出版前一年[2021版] 出版后一年[2023版]

第一作者：
第一作者机构： [1]Department of Dermatology, The First Hospital of China MedicalUniversity, National Health Commission Key Laboratory of Immunodermatology, Key Laboratory of Immunodermatology of Ministry ofEducation, Shenyang, China
通讯作者：
通讯机构： [1]Department of Dermatology, The First Hospital of China MedicalUniversity, National Health Commission Key Laboratory of Immunodermatology, Key Laboratory of Immunodermatology of Ministry ofEducation, Shenyang, China [*1]Department of Dermatology, The First Hospital of China Medical University, National Health Commission Key Laboratory of Immunodermatology, Key Laboratory of Immunodermatology of Ministry of Education, Number 155 Nanjing Bei Street, Shenyang 110001, China
推荐引用方式(GB/T 7714)：
Zhang Liming,Qiu Li,Wu Jian,et al.GWAS of Chronic Spontaneous Urticaria Reveals Genetic Overlap with Autoimmune Diseases, Not Atopic Diseases[J].The Journal of investigative dermatology.2022,67.doi:10.1016/j.jid.2022.07.012.
APA：
Zhang Liming,Qiu Li,Wu Jian,Qi Yumeng,Gao Xinghua...&Xiao Ting.(2022).GWAS of Chronic Spontaneous Urticaria Reveals Genetic Overlap with Autoimmune Diseases, Not Atopic Diseases.The Journal of investigative dermatology,,
MLA：
Zhang Liming,et al."GWAS of Chronic Spontaneous Urticaria Reveals Genetic Overlap with Autoimmune Diseases, Not Atopic Diseases".The Journal of investigative dermatology .(2022):67

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