ArticleNature genetics2016
High-density genotyping of immune-related loci identifies new SLE risk variants in individuals with Asian ancestry.
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Article in Nature genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 153 papers, 3 of them syntheses that pooled it.
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153citing papers in PubMed, 3 pooled it
32.0field-weighted citation impact, top 1% of its field
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Who cites it
153 citing papers in PubMed, 3 syntheses or guidelines pooled it, 262 citations in OpenAlex.
- Pooled it
- Pooled it
- Mechanistic Characterization ofFrontiers in immunology · 2019Pooled it
- A plausibly causal functional lupus-associated risk variant in the STAT1-STAT4 locus.Human molecular genetics · 2018Trial
- Beyond B cell helpers: diverse roles of peripheral helper T cells.International immunology · 2026Review
- The Variant rs2706682 at PITPNC1, Which Enhances Vehicular Secretion, Associated With Systemic Lupus Erythematosus Susceptibility in Chinese Populations.International journal of immunogenetics · 2026Article
- [Role of HLA genetic variants in autoimmune diseases].Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences · 2026Review
- TLR7 and TLR9 have overlapping but distinct roles in systemic lupus erythematosus and Sjögren's disease.Frontiers in immunology · 2026Review
- Genetic association ofFrontiers in genetics · 2026Article
- Genetic risk factors and clinical manifestations of systemic lupus erythematosus: Large-scale analysis of genetic predisposition and disease subtypes.Journal of internal medicine · 2026Article
- Novel variants in ARID1B, SPSB1, and RAET1-AS shape genetic susceptibility and protection in systemic lupus erythematosus and lupus nephritis.Journal of translational autoimmunity · 2025Article
- Immunopathogenesis of Systemic Lupus Erythematosus: Interplay of Innate and Adaptive Immunity, Microbiome Dysbiosis, and Emerging Therapeutic Targets.Pathophysiology : the official journal of the International Society for Pathophysiology · 2025Review
- The Presence of Risk and Protective HLA-DQ Haplotype Combinations and PLA2R1 Risk SNP in Hungarian Patients with Membranous Nephropathy.International journal of molecular sciences · 2025Article
- Article
- Systemic lupus erythematosus: updated insights on the pathogenesis, diagnosis, prevention and therapeutics.Signal transduction and targeted therapy · 2025Review
- An overview on Sjögren's syndrome and systemic lupus erythematosus' genetics.Toxicology research · 2025Review
- Review
- Characterization of T-bet expressing B cells in lupus patients indicates a putative prognostic and therapeutic value of these cells for the disease.Clinical and experimental immunology · 2025Article
- Multi-omics integration identifies NK cell-mediated cytotoxicity as a therapeutic target in systemic lupus erythematosus.Frontiers in immunology · 2025Article
- Exploring the Relationship between ACE Gene Variants and Systemic Lupus Erythematosus Susceptibility in the Hainan Population through Genetic Association Analysis.Current rheumatology reviews · 2025Article
93 more citing papers are in PubMed but not listed here.
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Authors and funding
38 authors at 18 institutions in 5 countries.
Celi SunArthritis and Clinical Immunology Research Program, Oklahoma Medical Research Foundation, Oklahoma City, Oklahoma, USA.
Julio E MolinerosArthritis and Clinical Immunology Research Program, Oklahoma Medical Research Foundation, Oklahoma City, Oklahoma, USA.
Loren L LoogerHoward Hughes Medical Institute, Janelia Research Campus, Ashburn, Virginia, USA.
Xu-Jie ZhouRenal Division, Peking University First Hospital, Peking University Institute of Nephrology, Key Laboratory of Renal Disease, Ministry of Health of China and Key Laboratory of Chronic Kidney Disease Prevention and Treatment (Peking University), Ministry of Education, Beijing, China.ORCID http://orcid.org/0000-0002-7215-707X
Kwangwoo KimDepartment of Rheumatology, Hanyang University Hospital for Rheumatic Diseases, Seoul, Korea.
Yukinori OkadaDepartment of Human Genetics and Disease Diversity, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Tokyo, Japan.
Jianyang MaShanghai Institute of Rheumatology, Renji Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.
Yuan-Yuan QiRenal Division, Peking University First Hospital, Peking University Institute of Nephrology, Key Laboratory of Renal Disease, Ministry of Health of China and Key Laboratory of Chronic Kidney Disease Prevention and Treatment (Peking University), Ministry of Education, Beijing, China.
Xana Kim-HowardArthritis and Clinical Immunology Research Program, Oklahoma Medical Research Foundation, Oklahoma City, Oklahoma, USA.
Prasenjeet MotghareArthritis and Clinical Immunology Research Program, Oklahoma Medical Research Foundation, Oklahoma City, Oklahoma, USA.
Krishna BhattaraiArthritis and Clinical Immunology Research Program, Oklahoma Medical Research Foundation, Oklahoma City, Oklahoma, USA.
Adam AdlerArthritis and Clinical Immunology Research Program, Oklahoma Medical Research Foundation, Oklahoma City, Oklahoma, USA.
So-Young BangDepartment of Rheumatology, Hanyang University Hospital for Rheumatic Diseases, Seoul, Korea.
Hye-Soon LeeDepartment of Rheumatology, Hanyang University Hospital for Rheumatic Diseases, Seoul, Korea.
Tae-Hwan KimDepartment of Rheumatology, Hanyang University Hospital for Rheumatic Diseases, Seoul, Korea.
Young Mo KangSchool of Medicine, Kyungpook National University Hospital, Daegu, Korea.
Chang-Hee SuhDepartment of Rheumatology, Ajou University Hospital, Suwon, Korea.ORCID http://orcid.org/0000-0001-6156-393X
Won Tae ChungDepartment of Internal Medicine, Dong-A University Hospital, Busan, Korea.ORCID http://orcid.org/0000-0002-1585-1022
Yong-Beom ParkDepartment of Internal Medicine, Yonsei University College of Medicine, Seoul, Korea.
Jung-Yoon ChoeDepartment of Internal Medicine, Daegu Catholic University Hospital, Daegu, Korea.
Seung Cheol ShimDaejeon Rheumatoid and Degenerative Arthritis Center, Chungnam National University Hospital, Daejeon, Korea.
Yuta KochiLaboratory for Autoimmune Diseases, Center for Integrative Medical Sciences, RIKEN, Yokohama, Japan.
Akari SuzukiLaboratory for Autoimmune Diseases, Center for Integrative Medical Sciences, RIKEN, Yokohama, Japan.
Michiaki KuboLaboratory for Genotyping Development, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan.
Takayuki SumidaDepartment of Internal Medicine, Faculty of Medicine, University of Tsukuba, Tsukuba, Japan.
Kazuhiko YamamotoLaboratory for Autoimmune Diseases, Center for Integrative Medical Sciences, RIKEN, Yokohama, Japan.
Shin-Seok LeeDepartment of Rheumatology, Chonnam National University Hospital, Gwangju, Korea.
Young Jin KimKorea National Institute of Health, Osong, Korea.
Bok-Ghee HanKorea National Institute of Health, Osong, Korea.
Mikhail DozmorovDepartment of Biostatistics, Virginia Commonwealth University, Richmond, Virginia, USA.ORCID http://orcid.org/0000-0002-0086-8358
Kenneth M KaufmanDepartment of Pediatrics, Cincinnati Children's Hospital Medical Center and US Department of Veterans Affairs Medical Center, Cincinnati, Ohio, USA.
Jonathan D WrenArthritis and Clinical Immunology Research Program, Oklahoma Medical Research Foundation, Oklahoma City, Oklahoma, USA.
John B HarleyDepartment of Pediatrics, Cincinnati Children's Hospital Medical Center and US Department of Veterans Affairs Medical Center, Cincinnati, Ohio, USA.
Nan ShenShanghai Institute of Rheumatology, Renji Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.
Kek Heng ChuaDepartment of Biomedical Science, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia.
Hong ZhangRenal Division, Peking University First Hospital, Peking University Institute of Nephrology, Key Laboratory of Renal Disease, Ministry of Health of China and Key Laboratory of Chronic Kidney Disease Prevention and Treatment (Peking University), Ministry of Education, Beijing, China.
Sang-Cheol BaeDepartment of Rheumatology, Hanyang University Hospital for Rheumatic Diseases, Seoul, Korea.
Swapan K NathArthritis and Clinical Immunology Research Program, Oklahoma Medical Research Foundation, Oklahoma City, Oklahoma, USA.
Oklahoma Medical Research Foundation · USHanyang University Seoul Hospital · KRRIKEN Center for Integrative Medical Sciences · JPCincinnati Children's Hospital Medical Center · USPeking University · CNKorea National Institute of Health · KRAjou University Hospital · KRChonnam National University Hospital · KRChungnam National University Hospital · KRDong-A University Hospital · KRHoward Hughes Medical Institute · USKyungpook National University Hospital · KRShanghai Jiao Tong University · CNTokyo Medical and Dental University · JPUniversity of Malaya · MYUniversity of Tsukuba · JPVirginia Commonwealth University · USYonsei University · KR
Funding
LCenter for Clinical and Translational Science and TrainingUL1TR001425 · NCATS · UNIVERSITY OF CINCINNATI · PI HEUBI, JAMES E., KISSELA, BRETT M · 2015 to 2024
$37.5MUAB Center for Clinical and Translational Science (CCTS)UL1TR001417 · NCATS · UNIVERSITY OF ALABAMA AT BIRMINGHAM · PI KIMBERLY, ROBERT P. · 2015 to 2018
$31.4MSequencingP01AI083194 · NIAID · OKLAHOMA MEDICAL RESEARCH FOUNDATION · PI KIMBERLY, ROBERT P. · 2009 to 2013
$9.6MHLA GENE COMPLEMENTATION IN PRIMARY SJOGREN'S AND LUPUSR01AI024717 · NIAID · OKLAHOMA MEDICAL RESEARCH FOUNDATION · PI KOTTYAN, LEAH CLAIRE, WEIRAUCH, MATTHEW TYSON · 1987 to 2025
$7.8MBetter Outcomes for Children: Promoting Excellence in Healthcare Genomics to Inform PolicyU01HG008666 · NHGRI · CINCINNATI CHILDRENS HOSP MED CTR · PI HARLEY, JOHN BARKER · 2015 to 2019
$4.2MGenetic Linkage in LupusR37AI024717 · NIAID · OKLAHOMA MEDICAL RESEARCH FOUNDATION · PI HARLEY, JOHN BARKER · 2005 to 2014
$4.2MBetter Outcomes for Children: GWAS & PheWAS in eMERGEII.U01HG006828 · NHGRI · CINCINNATI CHILDRENS HOSP MED CTR · PI HARLEY, JOHN BARKER, HOLM, INGRID ADELE · 2012 to 2014
$4.0MSLE Susceptibility and Clinical Significance at 2q22-24 across Multiple EthnicitiR01AR060366 · NIAMS · OKLAHOMA MEDICAL RESEARCH FOUNDATION · PI NATH, SWAPAN K. · 2010 to 2019
$3.3MHealth Disparities and Genetic Architecture of Lupus in African AmericansR01MD007909 · NIMHD · OKLAHOMA MEDICAL RESEARCH FOUNDATION · PI NATH, SWAPAN K. · 2014 to 2018
$2.1MLocalizing functional variants in SLE susceptibility genesR21AI107176 · NIAID · OKLAHOMA MEDICAL RESEARCH FOUNDATION · PI NATH, SWAPAN K. · 2015 to 2016
$471kNADPH-Oxidase and SLE SusceptibilityR21AI103399 · NIAID · OKLAHOMA MEDICAL RESEARCH FOUNDATION · PI NATH, SWAPAN K. · 2013 to 2014
$462kHoward Hughes Medical InstituteNCATS NIH HHS TR001425NCATS NIH HHS UL1 TR001417NCATS NIH HHS UL1 TR001425NHGRI NIH HHS HG006828NHGRI NIH HHS HG008666NHGRI NIH HHS U01 HG006828NHGRI NIH HHS U01 HG008666NIAID NIH HHS AI024717NIAID NIH HHS AI083194NIAID NIH HHS AI103399NIAID NIH HHS AI107176NIAID NIH HHS P01 AI083194NIAID NIH HHS R01 AI024717NIAID NIH HHS R21 AI103399NIAID NIH HHS R21 AI107176NIAID NIH HHS R37 AI024717NIAMS NIH HHS AR060366NIAMS NIH HHS R01 AR060366NIMHD NIH HHS MD007909NIMHD NIH HHS R01 MD007909
Abstract
Systemic lupus erythematosus (SLE) has a strong but incompletely understood genetic architecture. We conducted an association study with replication in 4,478 SLE cases and 12,656 controls from six East Asian cohorts to identify new SLE susceptibility loci and better localize known loci. We identified ten new loci and confirmed 20 known loci with genome-wide significance. Among the new loci, the most significant locus was GTF2IRD1-GTF2I at 7q11.23 (rs73366469, Pmeta = 3.75 × 10(-117), odds ratio (OR) = 2.38), followed by DEF6, IL12B, TCF7, TERT, CD226, PCNXL3, RASGRP1, SYNGR1 and SIGLEC6. We identified the most likely functional variants at each locus by analyzing epigenetic marks and gene expression data. Ten candidate variants are known to alter gene expression in cis or in trans. Enrichment analysis highlights the importance of these loci in B cell and T cell biology. The new loci, together with previously known loci, increase the explained heritability of SLE to 24%. The new loci share functional and ontological characteristics with previously reported loci and are possible drug targets for SLE therapeutics.
Indexed as
Genetic Predisposition to DiseaseGenome-Wide Association StudyAsian PeopleFemaleGene ExpressionGenotypeGenotyping TechniquesHumansLupus Erythematosus, SystemicMalePolymorphism, Single NucleotideWhite People
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