个人科研网厅 | | 帮助
高级检索
当前位置： 首页 > 详情页

Biological insights into systemic lupus erythematosus through an immune cell-specific transcriptome-wide association study

| 认领 | 导出 | |

文献详情

资源类型：
WOS体系：

收录情况： ◇ SCIE

作者：
Yin, Xianyong[1,2,3,4,5,6,7,8] * ; Kim, Kwangwoo[9,10] * ; Suetsugu, Hiroyuki[11,12,13] * ; Bang, So-Young[14,15] ; Wen, Leilei[1,2,3] ; Koido, Masaru[12,16] ; Ha, Eunji[9,10] ; Liu, Lu[1,2,3] ; Sakamoto, Yuma[11,17] ; Jo, Sungsin[15] ; Leng, Rui-Xue[18] ; Otomo, Nao[11,12,19] ; Kwon, Young-Chang[15] ; Sheng, Yujun[1,2,3] ; Sugano, Nobuhiko[20] ; Hwang, Mi Yeong[21] ; Li, Weiran[1,2,3] ; Mukai, Masaya[22] ; Yoon, Kyungheon[21] ; Cai, Minglong[1,2,3] ; Ishigaki, Kazuyoshi[12,23,24,25,26] ; Chung, Won Tae[27] ; Huang, He[1,2,3] ; Takahashi, Daisuke[28,29] ; Lee, Shin-Seok[30] ; Wang, Mengwei[1,2,3] ; Karino, Kohei[29,31] ; Shim, Seung-Cheol[32] ; Zheng, Xiaodong[1,2,3] ; Miyamura, Tomoya[33] ; Kang, Young Mo[34] ; Ye, Dongqing[18] ; Nakamura, Junichi[35] ; Suh, Chang-Hee[36] ; Tang, Yuanjia[37] ; Motomura, Goro[13] ; Park, Yong-Beom[38] ; Ding, Huihua[37] ; Kuroda, Takeshi[39] ; Choe, Jung-Yoon[40] ; Li, Chengxu[5] ; Niiro, Hiroaki[41] ; Park, Youngho[15] ; Shen, Changbing[42,43] ; Miyamoto, Takeshi[44] ; Ahn, Ga-Young[14] ; Fei, Wenmin[5] ; Takeuchi, Tsutomu[45] ; Shin, Jung-Min[14] ; Li, Keke[5] ; Kawaguchi, Yasushi[46] ; Lee, Yeon-Kyung[14] ; Wang, Yong-Fei[47] ; Amano, Koichi[48] ; Park, Dae Jin[14] ; Yang, Wanling[47] ; Tada, Yoshifumi[49] ; Lau, Yu Lung[47] ; Yamaji, Ken[50] ; Zhu, Zhengwei[1,2,3] ; Shimizu, Masato[51] ; Atsumi, Takashi[52] ; Suzuki, Akari[53] ; Sumida, Takayuki[54] ; Okada, Yukinori[55,56,57] ; Matsuda, Koichi[58,59] ; Matsuo, Keitaro[60,61] ; Kochi, Yuta[62] ; Yamamoto, Kazuhiko[53] ; Ohmura, Koichiro[63] ; Kim, Tae-Hwan[14,15] ; Yang, Sen[1,2,3] ; Yamamoto, Takuaki[64] ; Kim, Bong-Jo[21] ; Shen, Nan[37,65,66] ; Ikegawa, Shiro[11] ; Lee, Hye-Soon[14,15] ; Zhang, Xuejun[1,2,3,67] ; Terao, Chikashi[12,68,69,*1] ; Cui, Yong[5,*2] ; Bae, Sang-Cheol[14,15,*3] ;
单位： [1]Anhui Med Univ, Affiliated Hosp 1, Dept Dermatol, Hefei, Anhui, Peoples R China [2]Anhui Med Univ, Inst Dermatol, Affiliated Hosp 1, Hefei, Anhui, Peoples R China [3]Anhui Med Univ, Key Lab Dermatol, Minist Educ, Hefei, Anhui, Peoples R China [4]Inflammat & Immune Mediated Dis Lab Anhui Prov, Hefei, Anhui, Peoples R China [5]China Japan Friendship Hosp, Dept Dermatol, Beijing, Peoples R China [6]Univ Michigan, Dept Biostat, Ann Arbor, MI 48109 USA [7]Univ Michigan, Ctr Stat Genet, Ann Arbor, MI 48109 USA [8]Fudan Univ, Human Phenome Inst, Shanghai, Peoples R China [9]Kyung Hee Univ, Dept Biol, Seoul, South Korea [10]Kyung Hee Univ, Dept Life & Nanopharmaceut Sci, Seoul, South Korea [11]RIKEN Ctr Med Sci, Lab Bone & Joint Dis, Tokyo, Japan [12]RIKEN Ctr Integrat Med Sci, Lab Stat & Translat Genet Anal, Yokohama, Kanagawa, Japan [13]Kyushu Univ, Grad Sch Med Sci, Dept Orthopaed Surg, Fukuoka, Japan [14]Hanyang Univ, Dept Rheumatol, Hosp Rheumat Dis, Seoul, South Korea [15]Hanyang Univ, Inst Rheumatol Res, Seoul, South Korea [16]Univ Tokyo, Inst Med Sci, Dept Canc Biol, Div Mol Pathol, Tokyo, Japan [17]Koga Hosp 21, Kurume, Fukuoka, Japan [18]Anhui Med Univ, Sch Publ Hlth, Dept Epidemiol & Biostat, Hefei, Anhui, Peoples R China [19]Keio Univ, Dept Orthoped Surg, Sch Med, Tokyo, Japan [20]Osaka Univ, Dept Orthopaed Med Engn, Grad Sch Med, Osaka, Japan [21]Natl Inst Hlth, Dept Precis Med, Div Genome Sci, Cheongju, South Korea [22]Sapporo City Gen Hosp, Dept Rheumatol & Clin Immunol, Sapporo, Hokkaido, Japan [23]Harvard Med Sch, Div Genet, Dept Med, Brigham & Womens Hosp, Boston, MA 02115 USA [24]Harvard Med Sch, Brigham & Womens Hosp, Dept Med, Div Rheumatol, Boston, MA 02115 USA [25]Harvard Med Sch, Ctr Data Sci, Boston, MA 02115 USA [26]Broad Inst MIT & Harvard, Program Med & Populat Genet, Cambridge, MA 02142 USA [27]Dong A Univ Hosp, Dept Internal Med, Busan, South Korea [28]Hokkaido Univ, Fac Med, Dept Orthopaed Surg, Sapporo, Hokkaido, Japan [29]Hokkaido Univ, Grad Sch Med, Sapporo, Hokkaido, Japan [30]Chonnam Natl Univ, Dept Internal Med, Div Rheumatol, Med Sch & Hosp, Gwangju, South Korea [31]Hokkaido Univ, Fac Med, Dept Rheumatol Endocrinol & Nephrol, Sapporo, Hokkaido, Japan [32]Chungnam Natl Univ Hosp, Dept Internal Med, Div Rheumatol, Daejeon, South Korea [33]Natl Hosp Org, Kyushu Med Ctr, Dept Internal Med & Rheumatol, Fukuoka, Japan [34]Kyungpook Natl Univ Hosp, Dept Internal Med, Div Rheumatol, Daegu, South Korea [35]Chiba Univ, Grad Sch Med, Dept Orthopaed Surg, Chiba, Japan [36]Ajou Univ, Dept Rheumatol, Sch Med, Suwon, South Korea [37]Shanghai Jiao Tong Univ, Renji Hosp, Sch Med SJTUSM, Shanghai Inst Rheumatol, Shanghai, Peoples R China [38]Yonsei Univ, Dept Internal Med, Coll Med, Seoul, South Korea [39]Niigata Univ, Hlth Adm Ctr, Niigata, Japan [40]Catholic Univ Daegu, Dept Rheumatol, Sch Med, Daegu, South Korea [41]Kyushu Univ, Dept Med Educ, Grad Sch Med Sci, Fukuoka, Japan [42]Peking Univ, Dept Dermatol, Shenzhen Hosp, Shenzhen, Guangdong, Peoples R China [43]Shenzhen Peking Univ Hong Kong Univ Sci & Technol, Shenzhen Key Lab Translat Med Dermatol, Shenzhen, Guangdong, Peoples R China [44]Kumamoto Univ, Fac Life Sci, Dept Orthopaed Surg, Kumamoto, Japan [45]Keio Univ, Dept Internal Med, Div Rheumatol, Sch Med, Tokyo, Japan [46]Tokyo Womens Med Univ, Inst Rheumatol, Tokyo, Japan [47]Univ Hong Kong, Dept Paediat & Adolescent Med, Hong Kong, Peoples R China [48]Saitama Med Univ, Saitama Med Ctr, Dept Rheumatol & Clin Immunol, Saitama, Japan [49]Saga Univ, Fac Med, Dept Rheumatol, Saga, Japan [50]Juntendo Univ, Dept Internal Med & Rheumatol, Sch Med, Tokyo, Japan [51]Hokkaido Med Ctr Rheumat Dis, Sapporo, Hokkaido, Japan [52]Showa Univ, Dept Orthopaed Surg, Sch Med, Tokyo, Japan [53]RIKEN Ctr Integrat Med Sci, Lab Autoimmune Dis, Yokohama, Kanagawa, Japan [54]Univ Tsukuba, Fac Med, Dept Internal Med, Ibaraki, Japan [55]Osaka Univ, Dept Stat Genet, Grad Sch Med, Osaka, Japan [56]Univ Tokyo, Grad Sch Med, Dept Genome Informat, Tokyo, Japan [57]RIKEN Ctr Integrat Med Sci, Lab Syst Genet, Yokohama, Kanagawa, Japan [58]Univ Tokyo, Human Genome Ctr, Inst Med Sci, Lab Genome Technol, Tokyo, Japan [59]Univ Tokyo, Grad Sch Frontier Sci, Dept Computat Biol & Med Sci, Lab Clin Genome Sequencing, Tokyo, Japan [60]Aichi Canc Ctr Res Inst, Div Canc Epidemiol & Prevent, Nagoya, Aichi, Japan [61]Nagoya Univ, Dept Epidemiol, Grad Sch Med, Nagoya, Aichi, Japan [62]Tokyo Med & Dent Univ, Med Res Inst, Dept Genom Funct & Divers, Tokyo, Japan [63]Kyoto Univ, Dept Rheumatol & Clin Immunol, Grad Sch Med, Kyoto, Japan [64]Fukuoka Univ, Fac Med, Dept Orthopaed Surg, Fukuoka, Japan [65]Shanghai Jiao Tong Univ Sch Med SJTUSM, Renji Hosp, Shanghai Canc Inst, State Key Lab Oncogenes & Related Genes, Shanghai, Peoples R China [66]Cincinnati Childrens Hosp Med Ctr, Ctr Autoimmune Genom & Etiol CAGE, Cincinnati, OH 45229 USA [67]Fudan Univ, Huashan Hosp, Inst Dermatol, Dept Dermatol, Shanghai, Peoples R China [68]Shizuoka Prefectural Gen Hosp, Clin Res Ctr, Shizuoka, Japan [69]Univ Shizuoka, Sch Pharmaceut Sci, Dept Appl Genet, Shizuoka, Japan
出处：
DOI： 10.1136/annrheumdis-2022-222345
ISSN：

关键词： lupus erythematosus systemic polymorphism genetic autoimmunity

摘要：
Objective Genome-wide association studies (GWAS) have identified >100 risk loci for systemic lupus erythematosus (SLE), but the disease genes at most loci remain unclear, hampering translation of these genetic discoveries. We aimed to prioritise genes underlying the 110 SLE loci that were identified in the latest East Asian GWAS meta-analysis. Methods We built gene expression predictive models in blood B cells, CD4(+) and CD8(+) T cells, monocytes, natural killer cells and peripheral blood cells of 105 Japanese individuals. We performed a transcriptome-wide association study (TWAS) using data from the latest genome-wide association meta-analysis of 208 370 East Asians and searched for candidate genes using TWAS and three data-driven computational approaches. Results TWAS identified 171 genes for SLE (p<1.0x10(-5)); 114 (66.7%) showed significance only in a single cell type; 127 (74.3%) were in SLE GWAS loci. TWAS identified a strong association between CD83 and SLE (p<7.7x10(-8)). Meta-analysis of genetic associations in the existing 208 370 East Asian and additional 1498 cases and 3330 controls found a novel single-variant association at rs72836542 (OR=1.11, p=4.5x10(-9)) around CD83. For the 110 SLE loci, we identified 276 gene candidates, including 104 genes at recently-identified SLE novel loci. We demonstrated in vitro that putative causal variant rs61759532 exhibited an allele-specific regulatory effect on ACAP1, and that presence of the SLE risk allele decreased ACAP1 expression. Conclusions Cell-level TWAS in six types of immune cells complemented SLE gene discovery and guided the identification of novel genetic associations. The gene findings shed biological insights into SLE genetic associations.

基金：
National Natural Science Foundation of China (NSFC) [31630021, 81881340424, 81803117, 82003328, 82003330, 81872516, 81573033, 81872527, 81830019, 81421001, 82173418]; Distinguished Young Scholar of Provincial Natural Science Foundation of Anhui [1808085J08]; National Program on Key Basic Research Project of China (973 Program) [2014CB541901]; Science Foundation of Ministry of Education of China [213018A]; Program for New Century Excellent Talents in University of Ministry of Education of China [NCET-12-0600]; Basic Science Research Program through the National Research Foundation of Korea (NRF) - Ministry of Education [NRF-2021R1A6A1A03038899]; Basic Science Research Program through the National Research Foundation of Korea - Ministry of Science, ICT [2015R1C1A1A02036527, 2017R1E1A1A01076388]; National BioBank of Korea, Korea Disease Control and Prevention Agency, Republic of Korea [KBN-2018-031]; Department of Precision Medicine, Korea National Institute of Health, Republic of Korea [6637-301, 2022-NI-067-00]; Japan Agency for Medical Research and Development (AMED) [JP21kk0305013, JP21tm0424220, JP21ck0106642]; Japan Society for the Promotion of Science KAKENHI [JP20H00462]; BioBank Japan project; Ministry of Education, Culture, Sports, Sciences and Technology of the Japanese Government and AMED [17km0305002, 18km0605001]; Japan Orthopaedics and Traumatology Research Foundation, lnc [350]; RIKEN Junior Research Associate Program
语种：
外文
WOS：
中科院(CAS)分区：
出版当年[2021]版：
大类 | 1 区 医学
小类 | 1 区 风湿病学
最新[2025]版：
大类 | 1 区 医学
小类 | 1 区 风湿病学
JCR分区：
出版当年[2020]版：
Q1 RHEUMATOLOGY
最新[2023]版：
Q1 RHEUMATOLOGY

影响因子： 最新[2023版] 最新五年平均[2021-2025] 出版当年[2020版] 出版当年五年平均[2016-2020] 出版前一年[2019版] 出版后一年[2021版]

第一作者：
第一作者单位： [1]Anhui Med Univ, Affiliated Hosp 1, Dept Dermatol, Hefei, Anhui, Peoples R China [2]Anhui Med Univ, Inst Dermatol, Affiliated Hosp 1, Hefei, Anhui, Peoples R China [3]Anhui Med Univ, Key Lab Dermatol, Minist Educ, Hefei, Anhui, Peoples R China [4]Inflammat & Immune Mediated Dis Lab Anhui Prov, Hefei, Anhui, Peoples R China [5]China Japan Friendship Hosp, Dept Dermatol, Beijing, Peoples R China [6]Univ Michigan, Dept Biostat, Ann Arbor, MI 48109 USA [7]Univ Michigan, Ctr Stat Genet, Ann Arbor, MI 48109 USA [8]Fudan Univ, Human Phenome Inst, Shanghai, Peoples R China
共同第一作者：
通讯作者：
通讯机构： [5]China Japan Friendship Hosp, Dept Dermatol, Beijing, Peoples R China [12]RIKEN Ctr Integrat Med Sci, Lab Stat & Translat Genet Anal, Yokohama, Kanagawa, Japan [14]Hanyang Univ, Dept Rheumatol, Hosp Rheumat Dis, Seoul, South Korea [15]Hanyang Univ, Inst Rheumatol Res, Seoul, South Korea [68]Shizuoka Prefectural Gen Hosp, Clin Res Ctr, Shizuoka, Japan [69]Univ Shizuoka, Sch Pharmaceut Sci, Dept Appl Genet, Shizuoka, Japan [*1]Laboratory for Statistical and Translational Genetics Analysis, RIKEN Center for Integrative Medical Sciences, Kanagawa, Japan [*2]Department of Dermatology, China-Japan Friendship Hospital, Beijing, People’s Republic of China [*3]Department of Rheumatology, Hanyang University Hospital for Rheumatic Diseases, Seoul, South Korea
推荐引用方式(GB/T 7714)：
Yin Xianyong,Kim Kwangwoo,Suetsugu Hiroyuki,et al.Biological insights into systemic lupus erythematosus through an immune cell-specific transcriptome-wide association study[J].ANNALS of the RHEUMATIC DISEASES.2022,doi:10.1136/annrheumdis-2022-222345.
APA：
Yin, Xianyong,Kim, Kwangwoo,Suetsugu, Hiroyuki,Bang, So-Young,Wen, Leilei...&Bae, Sang-Cheol.(2022).Biological insights into systemic lupus erythematosus through an immune cell-specific transcriptome-wide association study.ANNALS of the RHEUMATIC DISEASES,,
MLA：
Yin, Xianyong,et al."Biological insights into systemic lupus erythematosus through an immune cell-specific transcriptome-wide association study".ANNALS of the RHEUMATIC DISEASES .(2022)

相关文献

[1]Meta-analysis of 208370 East Asians identifies 113 susceptibility loci for systemic lupus erythematosus [2]The Regulatory T Cell in Active Systemic Lupus Erythematosus Patients: A Systemic Review and Meta-Analysis [3]Discovery of a novel genetic susceptibility locus on X chromosome for systemic lupus erythematosus [4]Association of the Polymorphism rs13259960 in SLEAR With Predisposition to Systemic Lupus Erythematosus [5]系统性红斑狼疮合并妊娠临床分析 [6]Increased expression of PRKCB mRNA in peripheral blood mononuclear cells from patients with systemic lupus erythematosus [7]A comparison and review of three sets of classification criteria for systemic lupus erythematosus for distinguishing systemic lupus erythematosus from pure mucocutaneous manifestations in the lupus disease spectrum [8]Association Study Identified HLA-DQA1 as a Genetic Risk of Systemic Lupus Erythematosus-associated Pulmonary Arterial Hypertension [9]Glucocorticoid-induced osteonecrosis in systemic lupus erythematosus patients [10]Downregulated expression of LBH mRNA in peripheral blood mononuclear cells from patients with systemic lupus erythematosus

资源点击量：1320 今日访问量：0 总访问量：816 更新日期：2025-04-01 建议使用谷歌、火狐浏览器 常见问题

版权所有：重庆聚合科技有限公司 渝ICP备12007440号-3 地址：重庆市两江新区泰山大道西段8号坤恩国际商务中心16层（401121）