Recent advances in understanding the genetic basis of systemic lupus erythematosus

Genetic variants shape rheumatoid arthritis-specific transcriptomic features in CD4+ T cells through differential DNA methylation, explaining a substantial proportion of heritability

(2021) Eunji Ha et al.   ANNALS OF THE RHEUMATIC DISEASES

Genome-wide association study on Northern Chinese identifies KLF2, DOT1L and STAB2 associated with systemic lupus erythematosus

(2021) Qin Song et al.   RHEUMATOLOGY

SLE non-coding genetic risk variant determines the epigenetic dysfunction of an immune cell specific enhancer that controls disease-critical microRNA expression

(2021) Guojun Hou et al.   Nature Communications

Identifying loci with different allele frequencies among cases of eight psychiatric disorders using CC-GWAS

(2021) Wouter J. Peyrot et al.   NATURE GENETICS

Identification of 38 novel loci for systemic lupus erythematosus and genetic heterogeneity between ancestral groups

(2021) Yong-Fei Wang et al.   Nature Communications

Global discovery of lupus genetic risk variant allelic enhancer activity

(2021) Xiaoming Lu et al.   Nature Communications

Dynamic landscape of immune cell-specific gene regulation in immune-mediated diseases

(2021) Mineto Ota et al.   CELL

Lupus susceptibility region containing CDKN1B rs34330 mechanistically influences expression and function of multiple target genes, also linked to proliferation and apoptosis

(2021) Bhupinder Singh et al.   Arthritis & Rheumatology

Genome-wide assessment of genetic risk for systemic lupus erythematosus and disease severity

(2020) Lingyan Chen et al.   HUMAN MOLECULAR GENETICS

Relationships Between Vitamin D, Gut Microbiome, and Systemic Autoimmunity

(2020) Erin A. Yamamoto et al.   Frontiers in Immunology

Complement genes contribute sex-biased vulnerability in diverse disorders

(2020) Nolan Kamitaki et al.   NATURE

Liability threshold modeling of case–control status and family history of disease increases association power

(2020) Margaux L. A. Hujoel et al.   NATURE GENETICS

Polygenic risk scores: from research tools to clinical instruments

(2020) Cathryn M. Lewis et al.   Genome Medicine

Single Nucleotide Polymorphisms in PPARD Associated with Systemic Lupus Erythematosus in Chinese Populations

(2020) Yuan-yuan Qi et al.   Journal of Immunology Research

Genome-wide association study in a Korean population identifies six novel susceptibility loci for rheumatoid arthritis

(2020) Young-Chang Kwon et al.   ANNALS OF THE RHEUMATIC DISEASES

Mapping systemic lupus erythematosus heterogeneity at the single-cell level

(2020) Djamel Nehar-Belaid et al.   NATURE IMMUNOLOGY

Mapping effector genes at lupus GWAS loci using promoter Capture-C in follicular helper T cells

(2020) Chun Su et al.   Nature Communications

Independent Replication on Genome-Wide Association Study Signals Identifies IRF3 as a Novel Locus for Systemic Lupus Erythematosus

(2020) Feixia Zhang et al.   Frontiers in Genetics

Molecular pathways in patients with systemic lupus erythematosus revealed by gene-centred DNA sequencing

(2020) Johanna K Sandling et al.   ANNALS OF THE RHEUMATIC DISEASES

Meta-analysis of 208370 East Asians identifies 113 susceptibility loci for systemic lupus erythematosus

(2020) Xianyong Yin et al.   ANNALS OF THE RHEUMATIC DISEASES

Promoter-interacting expression quantitative trait loci are enriched for functional genetic variants

(2020) Vivek Chandra et al.   NATURE GENETICS

Improving the trans-ancestry portability of polygenic risk scores by prioritizing variants in predicted cell-type-specific regulatory elements

(2020) Tiffany Amariuta et al.   NATURE GENETICS

Genetic variants differentially associated with rheumatoid arthritis and systemic lupus erythematosus reveal the disease-specific biology

(2019) Jiwoo Lim et al.   Scientific Reports

Understanding HLA associations from SNP summary association statistics

(2019) Jiwoo Lim et al.   Scientific Reports

PLD4 is a genetic determinant to systemic lupus erythematosus and involved in murine autoimmune phenotypes

(2019) Shuji Akizuki et al.   ANNALS OF THE RHEUMATIC DISEASES

Benefits and limitations of genome-wide association studies

(2019) Vivian Tam et al.   NATURE REVIEWS GENETICS

Amino acid signatures of HLA Class-I and II molecules are strongly associated with SLE susceptibility and autoantibody production in Eastern Asians

(2019) Julio E. Molineros et al.   PLoS Genetics

Priority index for human genetics and drug discovery

(2019) Robert M. Plenge   NATURE GENETICS

A genetics-led approach defines the drug target landscape of 30 immune-related traits

(2019) Hai Fang et al.   NATURE GENETICS

Mechanistic Characterization of RASGRP1 Variants Identifies an hnRNP-K-Regulated Transcriptional Enhancer Contributing to SLE Susceptibility

(2019) Julio E. Molineros et al.   Frontiers in Immunology

An allele-specific functional SNP associated with two systemic autoimmune diseases modulates IRF5 expression by long-range chromatin loop formation

(2019) Hlaing Nwe Thynn et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

2019 European League Against Rheumatism/American College of Rheumatology Classification Criteria for Systemic Lupus Erythematosus

(2019) Martin Aringer et al.   Arthritis & Rheumatology

Update on the Genetics of Systemic Lupus Erythematosus: Genome-Wide Association Studies and Beyond

(2019) Kwon et al.   Cells

NCF1-339 polymorphism is associated with altered formation of neutrophil extracellular traps, high serum interferon activity and antiphospholipid syndrome in systemic lupus erythematosus

(2019) Petrus Linge et al.   ANNALS OF THE RHEUMATIC DISEASES

Transcriptomic, epigenetic, and functional analyses implicate neutrophil diversity in the pathogenesis of systemic lupus erythematosus

(2019) Pragnesh Mistry et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Rare variants in non-coding regulatory regions of the genome that affect gene expression in systemic lupus erythematosus

(2019) Sarah A. Jones et al.   Scientific Reports

High genetic risk score is associated with early disease onset, damage accrual and decreased survival in systemic lupus erythematosus

(2019) Sarah Reid et al.   ANNALS OF THE RHEUMATIC DISEASES

DNA methylation mapping identifies gene regulatory effects in patients with systemic lupus erythematosus

(2018) Juliana Imgenberg-Kreuz et al.   ANNALS OF THE RHEUMATIC DISEASES

Identification ofST3AGL4,MFHAS1, CSNK2A2andCD226as loci associated with systemic lupus erythematosus (SLE) and evaluation of SLE genetics in drug repositioning

(2018) Yong-Fei Wang et al.   ANNALS OF THE RHEUMATIC DISEASES

Transcription factors operate across disease loci, with EBNA2 implicated in autoimmunity

(2018) John B. Harley et al.   NATURE GENETICS

The personal and clinical utility of polygenic risk scores

(2018) Ali Torkamani et al.   NATURE REVIEWS GENETICS

From genome-wide associations to candidate causal variants by statistical fine-mapping

(2018) Daniel J. Schaid et al.   NATURE REVIEWS GENETICS

Genetic variants in systemic lupus erythematosus susceptibility loci, XKR6 and GLT1D1 are associated with childhood-onset SLE in a Korean cohort

(2018) Young Bin Joo et al.   Scientific Reports

A Rare Variant (rs933717) at FBXO31-MAP1LC3B in Chinese Is Associated With Systemic Lupus Erythematosus

(2018) Yuan-yuan Qi et al.   Arthritis & Rheumatology

Genome-wide meta-analysis reveals shared new loci in systemic seropositive rheumatic diseases

(2018) Marialbert Acosta-Herrera et al.   ANNALS OF THE RHEUMATIC DISEASES

The role of microbiota in the pathogenesis of lupus: Dose it impact lupus nephritis?

(2018) Yalda Rahbar Saadat et al.   PHARMACOLOGICAL RESEARCH

Sex Hormones in Acquired Immunity and Autoimmune Disease

(2018) Vaishali R. Moulton   Frontiers in Immunology

Case–control association mapping by proxy using family history of disease

(2017) Jimmy Z Liu et al.   NATURE GENETICS

A missense variant in NCF1 is associated with susceptibility to multiple autoimmune diseases

(2017) Jian Zhao et al.   NATURE GENETICS

Limited statistical evidence for shared genetic effects of eQTLs and autoimmune-disease-associated loci in three major immune-cell types

(2017) Sung Chun et al.   NATURE GENETICS

The worldwide incidence and prevalence of systemic lupus erythematosus: a systematic review of epidemiological studies

(2017) Frances Rees et al.   RHEUMATOLOGY

Transancestral mapping and genetic load in systemic lupus erythematosus

(2017) Carl D. Langefeld et al.   Nature Communications

A combined large-scale meta-analysis identifiesCOG6as a novel shared risklocusfor rheumatoid arthritis and systemic lupus erythematosus

(2016) Ana Márquez et al.   ANNALS OF THE RHEUMATIC DISEASES

Lineage-Specific Genome Architecture Links Enhancers and Non-coding Disease Variants to Target Gene Promoters

(2016) Biola M. Javierre et al.   CELL

Toward new criteria for systemic lupus erythematosus—a standpoint

(2016) M Aringer et al.   LUPUS

Genome-wide association meta-analysis in Chinese and European individuals identifies ten new loci associated with systemic lupus erythematosus

(2016) David L Morris et al.   NATURE GENETICS

High-density genotyping of immune-related loci identifies new SLE risk variants in individuals with Asian ancestry

(2016) Celi Sun et al.   NATURE GENETICS

The global burden of SLE: prevalence, health disparities and socioeconomic impact

(2016) Erin E. Carter et al.   Nature Reviews Rheumatology

Alterations of the gut microbiome in Chinese patients with systemic lupus erythematosus

(2016) Zhixing He et al.   Gut Pathogens

LRRK1 is critical in the regulation of B-cell responses and CARMA1-dependent NF-κB activation

(2016) Keiko Morimoto et al.   Scientific Reports

Genome-Wide Association Study in an Amerindian Ancestry Population Reveals Novel Systemic Lupus Erythematosus Risk Loci and the Role of European Admixture

(2016) Marta E. Alarcón-Riquelme et al.   Arthritis & Rheumatology

Epstein-Barr Virus Oncoprotein Super-enhancers Control B Cell Growth

(2015) Hufeng Zhou et al.   Cell Host & Microbe

Genetic association analyses implicate aberrant regulation of innate and adaptive immunity genes in the pathogenesis of systemic lupus erythematosus

(2015) James Bentham et al.   NATURE GENETICS

Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases

(2015) Yun R Li et al.   NATURE MEDICINE

Familial Aggregation of Systemic Lupus Erythematosus and Coaggregation of Autoimmune Diseases in Affected Families

(2015) Chang-Fu Kuo et al.   JAMA Internal Medicine

Identification of a New Susceptibility Locus for Systemic Lupus Erythematosus on Chromosome 12 in Individuals of European Ancestry

(2015) F. Yesim Demirci et al.   Arthritis & Rheumatology

Influence of SusceptibilityHLA-DRB1alleles on the clinical subphenotypes of Systemic Lupus Erythematosus in Koreans

(2015) So-Young Bang et al.   Arthritis & Rheumatology

Identification of a systemic lupus erythematosus risk locus spanningATG16L2, FCHSD2,andP2RY2in Koreans

(2015) Christopher J. Lessard et al.   Arthritis & Rheumatology

The incidence and prevalence of systemic lupus erythematosus in the UK, 1999–2012

(2014) Frances Rees et al.   ANNALS OF THE RHEUMATIC DISEASES

GWAS identifies novel SLE susceptibility genes and explains the association of the HLA region

(2014) D L Armstrong et al.   GENES AND IMMUNITY

Environmental Factors, Toxicants and Systemic Lupus Erythematosus

(2014) Anselm Mak et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

X-Chromosome Complement and Estrogen Receptor Signaling Independently Contribute to the Enhanced TLR7-Mediated IFN-α Production of Plasmacytoid Dendritic Cells from Women

(2014) Sophie Laffont et al.   JOURNAL OF IMMUNOLOGY

Systematic review and meta-analysis of the sero-epidemiological association between Epstein-Barr virus and systemic lupus erythematosus

(2014) Peter Hanlon et al.   ARTHRITIS RESEARCH & THERAPY

Intestinal Dysbiosis Associated with Systemic Lupus Erythematosus

(2014) A. Hevia et al.   mBio

The HLA-DRβ1 amino acid positions 11–13–26 explain the majority of SLE–MHC associations

(2014) Kwangwoo Kim et al.   Nature Communications

Major Histocompatibility Complex Genomics and Human Disease

(2013) John Trowsdale et al.   Annual Review of Genomics and Human Genetics

Late-onset systemic lupus erythematosus: clinical features, course, and prognosis

(2013) Aleksandra Tomic-Lucic et al.   CLINICAL RHEUMATOLOGY

A systemic sclerosis and systemic lupus erythematosus pan-meta-GWAS reveals new shared susceptibility loci

(2013) Jose-Ezequiel Martin et al.   HUMAN MOLECULAR GENETICS

Genetic insights into common pathways and complex relationships among immune-mediated diseases

(2013) Miles Parkes et al.   NATURE REVIEWS GENETICS

Imputing Amino Acid Polymorphisms in Human Leukocyte Antigens

(2013) Xiaoming Jia et al.   PLoS One

Unraveling Multiple MHC Gene Associations with Systemic Lupus Erythematosus: Model Choice Indicates a Role for HLA Alleles and Non-HLA Genes in Europeans

(2012) David L. Morris et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Meta-analysis Followed by Replication Identifies Loci in or near CDKN1B, TET3, CD80, DRAM1, and ARID5B as Associated with Systemic Lupus Erythematosus in Asians

(2012) Wanling Yang et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Derivation and validation of the Systemic Lupus International Collaborating Clinics classification criteria for systemic lupus erythematosus

(2012) Michelle Petri et al.   ARTHRITIS AND RHEUMATISM

Gender Differences in the Pathogenesis and Outcome of Lupus and of Lupus Nephritis

(2012) Julie Schwartzman-Morris et al.   Clinical & Developmental Immunology

Genome-wide pathway analysis of genome-wide association studies on systemic lupus erythematosus and rheumatoid arthritis

(2012) Young Ho Lee et al.   MOLECULAR BIOLOGY REPORTS

Immune-mediated disease genetics: the shared basis of pathogenesis

(2012) Chris Cotsapas et al.   TRENDS IN IMMUNOLOGY

A Genome-Wide Association Study Identified AFF1 as a Susceptibility Locus for Systemic Lupus Eyrthematosus in Japanese

(2012) Yukinori Okada et al.   PLoS Genetics

HLA*IMP—an integrated framework for imputing classical HLA alleles from SNP genotypes

(2011) Alexander T. Dilthey et al.   BIOINFORMATICS

Risk Alleles for Systemic Lupus Erythematosus in a Large Case-Control Collection and Associations with Clinical Subphenotypes

(2011) Kimberly E. Taylor et al.   PLoS Genetics

Early disease onset is predicted by a higher genetic risk for lupus and is associated with a more severe phenotype in lupus patients

(2010) R. Webb et al.   ANNALS OF THE RHEUMATIC DISEASES

ELF1 is associated with systemic lupus erythematosus in Asian populations

(2010) J. Yang et al.   HUMAN MOLECULAR GENETICS

Genome-Wide Association Study in Asian Populations Identifies Variants in ETS1 and WDFY4 Associated with Systemic Lupus Erythematosus

(2010) Wanling Yang et al.   PLoS Genetics

Recent insights into the genetic basis of systemic lupus erythematosus

(2009) K L Moser et al.   GENES AND IMMUNITY

A large-scale replication study identifies TNIP1, PRDM1, JAZF1, UHRF1BP1 and IL10 as risk loci for systemic lupus erythematosus

(2009) Vesela Gateva et al.   NATURE GENETICS

Genome-wide association study in a Chinese Han population identifies nine new susceptibility loci for systemic lupus erythematosus

(2009) Jian-Wen Han et al.   NATURE GENETICS

Genome-wide association scan in women with systemic lupus erythematosus identifies susceptibility variants in ITGAM, PXK, KIAA1542 and other loci

(2008) John B Harley et al.   NATURE GENETICS

Functional variants in the B-cell gene BANK1 are associated with systemic lupus erythematosus

(2008) Sergey V Kozyrev et al.   NATURE GENETICS

Genetic variants near TNFAIP3 on 6q23 are associated with systemic lupus erythematosus

(2008) Robert R Graham et al.   NATURE GENETICS

Association of Systemic Lupus Erythematosus withC8orf13–BLKandITGAM–ITGAX

(2008) Geoffrey Hom et al.   NEW ENGLAND JOURNAL OF MEDICINE