Updates in Lupus Genetics

Confirmation of five novel susceptibility loci for Systemic Lupus Erythematosus (SLE) and integrated network analysis of 82 SLE susceptibility loci

(2017) Julio E. Molineros et al.   HUMAN MOLECULAR GENETICS

Follicular Dendritic Cell Activation by TLR Ligands Promotes Autoreactive B Cell Responses

(2017) Abhishek Das et al.   IMMUNITY

CD11b activation suppresses TLR-dependent inflammation and autoimmunity in systemic lupus erythematosus

(2017) Mohd Hafeez Faridi et al.   JOURNAL OF CLINICAL INVESTIGATION

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

(2017) Jian Zhao et al.   NATURE GENETICS

Genome-wide association study identifies distinct genetic contributions to prognosis and susceptibility in Crohn's disease

(2017) James C Lee et al.   NATURE GENETICS

Overexpression of the Cytokine BAFF and Autoimmunity Risk

(2017) Maristella Steri et al.   NEW ENGLAND JOURNAL OF MEDICINE

The druggable genome and support for target identification and validation in drug development

(2017) Chris Finan et al.   Science Translational Medicine

Transancestral mapping and genetic load in systemic lupus erythematosus

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

Combined role of vitamin D status andCYP24A1in the transition to systemic lupus erythematosus

(2016) Kendra A Young et al.   ANNALS OF THE RHEUMATIC DISEASES

Association of the polymorphisms of TRAF1 (rs10818488) and TNFAIP3 (rs2230926) with rheumatoid arthritis and systemic lupus erythematosus and their relationship to disease activity among Egyptian patients

(2016) Mai Moaaz et al.   Central European Journal of Immunology

The BANK1 SLE-risk variants are associated with alterations in peripheral B cell signaling and development in humans

(2016) Elizabeth M. Dam et al.   CLINICAL IMMUNOLOGY

PTPN22 polymorphisms, but not R620W, were associated with the genetic susceptibility of systemic lupus erythematosus and rheumatoid arthritis in a Chinese Han population

(2016) Liang Tang et al.   HUMAN IMMUNOLOGY

Genetic Variants That Are Associated with Neuropsychiatric Systemic Lupus Erythematosus

(2016) R. C. Ho et al.   JOURNAL OF RHEUMATOLOGY

Noncanonical autophagy inhibits the autoinflammatory, lupus-like response to dying cells

(2016) Jennifer Martinez et al.   NATURE

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

New insights into the immunopathogenesis of systemic lupus erythematosus

(2016) George C. Tsokos et al.   Nature Reviews Rheumatology

BANK1 Regulates IgG Production in a Lupus Model by Controlling TLR7-Dependent STAT1 Activation

(2016) Ying-Yu Wu et al.   PLoS One

Comprehensive Assessment of the Association between FCGRs polymorphisms and the risk of systemic lupus erythematosus: Evidence from a Meta-Analysis

(2016) Xiao-Wei Zhu et al.   Scientific Reports

Monogenic Lupus

(2016) Mindy S. Lo   Current Rheumatology Reports

Regulatory polymorphisms modulate the expression of HLA class II molecules and promote autoimmunity

(2016) Prithvi Raj et al.   eLife

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

Lupus Risk Variant Increases pSTAT1 Binding and Decreases ETS1 Expression

(2015) Xiaoming Lu et al.   AMERICAN JOURNAL OF HUMAN GENETICS

UBE2L3 Polymorphism Amplifies NF-κB Activation and Promotes Plasma Cell Development, Linking Linear Ubiquitination to Multiple Autoimmune Diseases

(2015) Myles J. Lewis et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Characterization of human disease phenotypes associated with mutations inTREX1,RNASEH2A,RNASEH2B,RNASEH2C,SAMHD1,ADAR, andIFIH1

(2015) Yanick J. Crow et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

IRF5, PTPN22, CD28, IL2RA, KIF5A, BLK and TNFAIP3 genes polymorphisms and lupus susceptibility in a cohort from the Egypt Delta; relation to other ethnic groups

(2015) Ashraf A. Elghzaly et al.   HUMAN IMMUNOLOGY

Requirement for Transcription FactorEts1in B Cell Tolerance to Self-Antigens

(2015) Lisa Russell et al.   JOURNAL OF IMMUNOLOGY

Cellular and Molecular Connections between Autophagy and Inflammation

(2015) Pierre Lapaquette et al.   MEDIATORS OF INFLAMMATION

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

Interferon regulatory factors: critical mediators of human lupus

(2015) Mark A. Jensen et al.   Translational Research

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

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

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

Type I Interferon Inhibition of MicroRNA-146a Maturation Through Up-Regulation of Monocyte Chemotactic Protein-Induced Protein 1 in Systemic Lupus Erythematosus

(2015) Bo Qu et al.   Arthritis & Rheumatology

Genetic Factors in Systemic Lupus Erythematosus: Contribution to Disease Phenotype

(2015) Fulvia Ceccarelli et al.   Journal of Immunology Research

Lupus risk variants in the PXK locus alter B-cell receptor internalization

(2015) Samuel E. Vaughn et al.   Frontiers in Genetics

Two Functional Lupus-Associated BLK Promoter Variants Control Cell-Type- and Developmental-Stage-Specific Transcription

(2014) Joel M. Guthridge et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The autoimmune-associated genetic variant PTPN22 R620W enhances neutrophil activation and function in patients with rheumatoid arthritis and healthy individuals

(2014) Rachel Bayley et al.   ANNALS OF THE RHEUMATIC DISEASES

Autophagy is activated in systemic lupus erythematosus and required for plasmablast development

(2014) Alexander J Clarke et al.   ANNALS OF THE RHEUMATIC DISEASES

The IRF5–TNPO3 association with systemic lupus erythematosus has two components that other autoimmune disorders variably share

(2014) Leah C. Kottyan et al.   HUMAN MOLECULAR GENETICS

Lupus Nephritis Susceptibility Loci in Women with Systemic Lupus Erythematosus

(2014) S. A. Chung et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

The tyrosine phosphatase PTPN22 discriminates weak self peptides from strong agonist TCR signals

(2014) Robert J Salmond et al.   NATURE IMMUNOLOGY

Activated STING in a Vascular and Pulmonary Syndrome

(2014) Yin Liu et al.   NEW ENGLAND JOURNAL OF MEDICINE

Association between Polymorphisms of the IKZF3 Gene and Systemic Lupus Erythematosus in a Chinese Han Population

(2014) Xinze Cai et al.   PLoS One

Stat3 promotes IL-10 expression in lupus T cells throughtrans-activation and chromatin remodeling

(2014) Christian M. Hedrich et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Association between the functional ITGAM rs1143679 G/A polymorphism and systemic lupus erythematosus/lupus nephritis or rheumatoid arthritis: an update meta-analysis

(2014) Young Ho Lee et al.   RHEUMATOLOGY INTERNATIONAL

Common Genetic Variants Modulate Pathogen-Sensing Responses in Human Dendritic Cells

(2014) M. N. Lee et al.   SCIENCE

Tyrosine Phosphatase PTPN22: Multifunctional Regulator of Immune Signaling, Development, and Disease

(2013) Nunzio Bottini et al.   Annual Review of Immunology

Allelic heterogeneity in NCF2 associated with systemic lupus erythematosus (SLE) susceptibility across four ethnic populations

(2013) Xana Kim-Howard et al.   HUMAN MOLECULAR GENETICS

The Autoimmunity-Associated Gene PTPN22 Potentiates Toll-like Receptor-Driven, Type 1 Interferon-Dependent Immunity

(2013) Yaya Wang et al.   IMMUNITY

Association analyses identifying two common susceptibility loci shared by psoriasis and systemic lupus erythematosus in the Chinese Han population

(2013) Yang Li et al.   JOURNAL OF MEDICAL GENETICS

Genetics of rheumatoid arthritis contributes to biology and drug discovery

(2013) Yukinori Okada et al.   NATURE

Systematic identification of trans eQTLs as putative drivers of known disease associations

(2013) Harm-Jan Westra et al.   NATURE GENETICS

Bringing genome-wide association findings into clinical use

(2013) Teri A. Manolio   NATURE REVIEWS GENETICS

Phagocytosis Is the Main CR3-Mediated Function Affected by the Lupus-Associated Variant of CD11b in Human Myeloid Cells

(2013) Liliane Fossati-Jimack et al.   PLoS One

PTPN22 Association in Systemic Lupus Erythematosus (SLE) with Respect to Individual Ancestry and Clinical Sub-Phenotypes

(2013) Bahram Namjou et al.   PLoS One

A20 in inflammation and autoimmunity

(2013) Leen Catrysse et al.   TRENDS IN IMMUNOLOGY

MicroRNA-3148 Modulates Allelic Expression of Toll-Like Receptor 7 Variant Associated with Systemic Lupus Erythematosus

(2013) Yun Deng et al.   PLoS Genetics

An Enhancer Element Harboring Variants Associated with Systemic Lupus Erythematosus Engages the TNFAIP3 Promoter to Influence A20 Expression

(2013) Shaofeng Wang et al.   PLoS Genetics

Preferential Binding to Elk-1 by SLE-Associated IL10 Risk Allele Upregulates IL10 Expression

(2013) Daisuke Sakurai et al.   PLoS Genetics

Admixture Mapping in Lupus Identifies Multiple Functional Variants within IFIH1 Associated with Apoptosis, Inflammation, and Autoantibody Production

(2013) Julio E. Molineros et al.   PLoS Genetics

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

Variation in theICAM1–ICAM4–ICAM5locus is associated with systemic lupus erythematosus susceptibility in multiple ancestries

(2012) Kwangwoo Kim et al.   ANNALS OF THE RHEUMATIC DISEASES

Fine mapping of Xq28: bothMECP2 and IRAK1contribute to risk for systemic lupus erythematosus in multiple ancestral groups

(2012) Kenneth M Kaufman et al.   ANNALS OF THE RHEUMATIC DISEASES

Transancestral mapping of the MHC region in systemic lupus erythematosus identifies new independent and interacting loci atMSH5, HLA-DPB1andHLA-G

(2012) Michelle M A Fernando et al.   ANNALS OF THE RHEUMATIC DISEASES

Macroautophagy is deregulated in murine and human lupus T lymphocytes

(2012) Frédéric Gros et al.   Autophagy

T lymphocytes from patients with systemic lupus erythematosus are resistant to induction of autophagy

(2012) Cristiano Alessandri et al.   FASEB JOURNAL

A functional haplotype of UBE2L3 confers risk for systemic lupus erythematosus

(2012) S Wang et al.   GENES AND IMMUNITY

CSK regulatory polymorphism is associated with systemic lupus erythematosus and influences B-cell signaling and activation

(2012) Nataly Manjarrez-Orduño et al.   NATURE GENETICS

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

(2012) Yukinori Okada et al.   PLoS Genetics

Analysis of autosomal genes reveals gene–sex interactions and higher total genetic risk in men with systemic lupus erythematosus

(2011) Travis Hughes et al.   ANNALS OF THE RHEUMATIC DISEASES

Identification of novel genetic susceptibility loci in African American lupus patients in a candidate gene association study

(2011) Elena Sánchez et al.   ARTHRITIS AND RHEUMATISM

Genetic relationships betweenA20/TNFAIP3, chronic inflammation and autoimmune disease

(2011) Lars Vereecke et al.   BIOCHEMICAL SOCIETY TRANSACTIONS

The Autoimmune Disease Risk Allele of UBE2L3 in African American Patients with Systemic Lupus Erythematosus: A Recessive Effect Upon Subphenotypes

(2011) S. AGIK et al.   JOURNAL OF RHEUMATOLOGY

Association of a functional variant downstream of TNFAIP3 with systemic lupus erythematosus

(2011) Indra Adrianto et al.   NATURE GENETICS

Lupus-associated causal mutation in neutrophil cytosolic factor 2 (NCF2) brings unique insights to the structure and function of NADPH oxidase

(2011) C. O. Jacob et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Promise and pitfalls of the Immunochip

(2011) Adrian Cortes et al.   ARTHRITIS RESEARCH & THERAPY

Association of Genetic Variants in Complement Factor H and Factor H-Related Genes with Systemic Lupus Erythematosus Susceptibility

(2011) Jian Zhao et al.   PLoS Genetics

A Functional Variant in MicroRNA-146a Promoter Modulates Its Expression and Confers Disease Risk for Systemic Lupus Erythematosus

(2011) Xiaobing Luo et al.   PLoS Genetics

Differential Genetic Associations for Systemic Lupus Erythematosus Based on Anti–dsDNA Autoantibody Production

(2011) Sharon A. Chung et al.   PLoS Genetics

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

Sex-specific association of X-linked Toll-like receptor 7 (TLR7) with male systemic lupus erythematosus

(2010) N. Shen et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

ITGAM coding variant (rs1143679) influences the risk of renal disease, discoid rash and immunological manifestations in patients with systemic lupus erythematosus with European ancestry

(2009) X. Kim-Howard et al.   ANNALS OF THE RHEUMATIC DISEASES

MicroRNA-146a contributes to abnormal activation of the type I interferon pathway in human lupus by targeting the key signaling proteins

(2009) Yuanjia Tang et al.   ARTHRITIS AND RHEUMATISM

Copy number variants in genetic susceptibility and severity of systemic lupus erythematosus

(2009) T. Ptacek et al.   CYTOGENETIC AND GENOME RESEARCH

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