Recent advances in the genetics of autoimmune disease.

No abstract is available for this paper.

• Publication year

  2009

• Venue

  Annual Review of Immunology

• Publication date

  2009-03-20

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1146/annurev.immunol.021908.132653PMID 19302045PMCID PMC2992886
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Genetic risk factors for rheumatoid arthritis differ in Caucasian and Korean populations.

  2009cited by this paper
• Horror autoinflammaticus: the molecular pathophysiology of autoinflammatory disease (*).

  2009cited by this paper
• Different patterns of associations with anti-citrullinated protein antibody-positive and anti-citrullinated protein antibody-negative rheumatoid arthritis in the extended major histocompatibility complex region.

  2009cited by this paper
• Strong association of de novo copy number mutations with sporadic schizophrenia

  2008cited by this paper
• Application of Ancestry Informative Markers to Association Studies in European Americans

  2008cited by this paper
• Complex organizational defects of fibroblast architecture in the mouse spleen with Nkx2.3 homeodomain deficiency

  2008cited by this paper
• Negative regulation of constitutive NF‐κB and JNK signaling by PKN1‐mediated phosphorylation of TRAF1

  2008cited by this paper
• function A novel polymorphism of the human CD40 receptor with enhanced

  2008cited by this paper
• The PTPN22 620W allele confers susceptibility to systemic sclerosis: findings of a large case-control study of European Caucasians and a meta-analysis.

  2008cited by this paper
• Common variants at CD40 and other loci confer risk of rheumatoid arthritis

  2008cited by this paper
• Genetic variants near TNFAIP3 on 6q23 are associated with systemic lupus erythematosus

  2008cited by this paper
• Phenotypically concordant and discordant monozygotic twins display different DNA copy-number-variation profiles.

  2008cited by this paper
• Several Regions in the Major Histocompatibility Complex Confer Risk for Anti-CCP-Antibody Positive Rheumatoid Arthritis, Independent of the DRB1 Locus

  2008cited by this paper
• Disruption of the homeostatic balance between autoaggressive (CD4+CD40+) and regulatory (CD4+CD25+FoxP3+) T cells promotes diabetes

  2008cited by this paper
• A risk haplotype of STAT4 for systemic lupus erythematosus is over-expressed, correlates with anti-dsDNA and shows additive effects with two risk alleles of IRF5

  2008cited by this paper
• A nonsynonymous functional variant in integrin-αM (encoded by ITGAM) is associated with systemic lupus erythematosus

  2008cited by this paper
• The genetics and immunopathogenesis of inflammatory bowel disease

  2008cited by this paper
• Mapping and sequencing of structural variation from eight human genomes

  2008cited by this paper
• Variant form of STAT4 is associated with primary Sjögren's syndrome

  2008cited by this paper
• The Wellcome Trust Case Control Consortium, U.K.

  2008cited by this paper
• Replication of KIAA0350, IL2RA, RPL5 and CD58 as multiple sclerosis susceptibility genes in Australians

  2008cited by this paper
• Efficacy and safety of ustekinumab, a human interleukin-12/23 monoclonal antibody, in patients with psoriasis: 76-week results from a randomised, double-blind, placebo-controlled trial (PHOENIX 1).

  2008cited by this paper
• Association of STAT4 with susceptibility to rheumatoid arthritis and systemic lupus erythematosus in the Japanese population.

  2008cited by this paper
• Genome-wide association scan in women with systemic lupus erythematosus identifies susceptibility variants in ITGAM, PXK, KIAA1542 and other loci

  2008cited by this paper
• Collaboration, genetic associations, and lupus erythematosus.

  2008cited by this paper
• Association of the IRF5 risk haplotype with high serum interferon-alpha activity in systemic lupus erythematosus patients.

  2008cited by this paper
• Mutation screening of PTPN22: association of the 1858T-allele with Addison's disease

  2008cited by this paper
• Functional variants in the B-cell gene BANK1 are associated with systemic lupus erythematosus

  2008cited by this paper
• Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease

  2008cited by this paper
• Genotype, haplotype and copy-number variation in worldwide human populations

  2008cited by this paper
• B-cell depletion with rituximab in relapsing-remitting multiple sclerosis.

  2008cited by this paper
• Immunity to citrullinated proteins in rheumatoid arthritis.

  2008cited by this paper
• Association of systemic lupus erythematosus with C8orf13-BLK and ITGAM-ITGAX.

  2008cited by this paper
• What Can Genome-Wide Association Studies Tell Us about the Genetics of Common Disease

  2008cited by this paper
• High Distribution of CD40 and TRAF2 in Th40 T Cell Rafts Leads to Preferential Survival of this Auto-Aggressive Population in Autoimmunity

  2008cited by this paper
• Multiple polymorphisms in the TNFAIP3 region are independently associated with systemic lupus erythematosus

  2008cited by this paper
• A Genome-Wide Association Study of Psoriasis and Psoriatic Arthritis Identifies New Disease Loci

  2008cited by this paper
• A single nucleotide polymorphism in the IRF5 promoter region is associated with susceptibility to rheumatoid arthritis in the Japanese population

  2008cited by this paper
• Replication of reported genetic associations of PADI4, FCRL3, SLC22A4 and RUNX1 genes with rheumatoid arthritis: results of an independent Japanese population and evidence from meta-analysis of East Asian studies

  2008cited by this paper
• A Large-Scale Rheumatoid Arthritis Genetic Study Identifies Association at Chromosome 9q33.2

  2008cited by this paper
• Efficacy and safety of ustekinumab, a human interleukin-12/23 monoclonal antibody, in patients with psoriasis: 52-week results from a randomised, double-blind, placebo-controlled trial (PHOENIX 2).

  2008cited by this paper
• PTPN22 is genetically associated with risk of generalized vitiligo, but CTLA4 is not.

  2008cited by this paper
• Polymorphisms of the IL12B and IL23R genes are associated with psoriasis.

  2008cited by this paper
• HLA class I alleles tag HLA-DRB1*1501 haplotypes for differential risk in multiple sclerosis susceptibility

  2008cited by this paper
• Protein tyrosine phosphatases in autoimmunity.

  2008cited by this paper
• Deletion polymorphism upstream of IRGM associated with altered IRGM expression and Crohn's disease

  2008cited by this paper
• Gene copy number variation in schizophrenia

  2008cited by this paper
• Specificity of the STAT4 Genetic Association for Severe Disease Manifestations of Systemic Lupus Erythematosus

  2008cited by this paper
• Localization of type 1 diabetes susceptibility to the MHC class I genes HLA-B and HLA-A

  2007cited by this paper
• A large-scale genetic association study confirms IL12B and leads to the identification of IL23R as psoriasis-risk genes.

  2007cited by this paper
• Discerning the Ancestry of European Americans in Genetic Association Studies

  2007cited by this paper
• Self-assembly directed synthesis of poly(ortho-toluidine)-metal(gold and palladium) composite nanospheres.

  2007cited by this paper
• Genome-wide association study identifies new susceptibility loci for Crohn disease and implicates autophagy in disease pathogenesis

  2007cited by this paper
• A second generation human haplotype map of over 3.1 million SNPs

  2007cited by this paper
• PLINK: a tool set for whole-genome association and population-based linkage analyses.

  2007cited by this paper
• Three functional variants of IFN regulatory factor 5 (IRF5) define risk and protective haplotypes for human lupus

  2007cited by this paper
• A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene

  2007cited by this paper
• A CD40 Kozak sequence polymorphism and susceptibility to antibody-mediated autoimmune conditions: the role of CD40 tissue-specific expression

  2007cited by this paper
• Safety and efficacy of additional courses of rituximab in patients with active rheumatoid arthritis: an open-label extension analysis.

  2007cited by this paper
• Two independent alleles at 6q23 associated with risk of rheumatoid arthritis

  2007cited by this paper
• Association of STAT4 with Rheumatoid Arthritis in the Korean Population

  2007cited by this paper
• Genomic polymorphism at the interferon-induced helicase (IFIH1) locus contributes to Graves' disease susceptibility.

  2007cited by this paper
• Heterozygous mutations in TREX1 cause familial chilblain lupus and dominant Aicardi-Goutieres syndrome.

  2007cited by this paper
• FCGR3B copy number variation is associated with susceptibility to systemic, but not organ-specific, autoimmunity

  2007cited by this paper
• Novel association in chromosome 4q27 region with rheumatoid arthritis and confirmation of type 1 diabetes point to a general risk locus for autoimmune diseases.

  2007cited by this paper
• Gene copy number variation in schizophrenia.

  2007cited by this paper
• Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls

  2007cited by this paper
• NF‐κB is required for STAT‐4 expression during dendritic cell maturation

  2007cited by this paper
• TRAF1-C5 as a risk locus for rheumatoid arthritis--a genomewide study.

  2007cited by this paper
• Competing Interests: Drs. Begovich

  2007cited by this paper
• Interleukin 7 receptor α chain ( IL7R ) shows allelic and functional association with multiple sclerosis

  2007cited by this paper
• A Costimulatory Function for T Cell CD401

  2007cited by this paper
• High serum IFN-α activity is a heritable risk factor for systemic lupus erythematosus

  2007cited by this paper
• Nuclear CD40 interacts with c-Rel and enhances proliferation in aggressive B-cell lymphoma.

  2007cited by this paper
• Targeting of the Transcription Factor STAT4 by Antisense Phosphorothioate Oligonucleotides Suppresses Collagen-Induced Arthritis1

  2007cited by this paper
• CD4+CD25+FoxP3+ regulatory T cells in autoimmune diseases

  2007cited by this paper
• The R620W polymorphism in PTPN22 confers general susceptibility for the development of alopecia areata

  2007cited by this paper
• A new multipoint method for genome-wide association studies by imputation of genotypes

  2007cited by this paper
• Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes

  2007cited by this paper
• Rheumatoid arthritis association at 6q23

  2007cited by this paper
• Large-scale genetic fine mapping and genotype-phenotype associations implicate polymorphism in the IL2RA region in type 1 diabetes

  2007cited by this paper
• An insertion-deletion polymorphism in the interferon regulatory Factor 5 (IRF5) gene confers risk of inflammatory bowel diseases.

  2007cited by this paper
• Genetic Variation in PTPN22 Corresponds to Altered Function of T and B Lymphocytes1

  2007cited by this paper
• Nonreceptor protein-tyrosine phosphatases in immune cell signaling.

  2007cited by this paper
• Interleukin-2 gene variation impairs regulatory T cell function and causes autoimmunity

  2007cited by this paper
• STAT4 and the risk of rheumatoid arthritis and systemic lupus erythematosus.

  2007cited by this paper
• Analysis of variation in NF-κB genes and expression levels of NF-κB-regulated molecules

  2007cited by this paper
• Strong Association of De Novo Copy Number Mutations with Autism

  2007cited by this paper
• Genetic association of IRF5 with SLE in Mexicans: higher frequency of the risk haplotype and its homozygozity than Europeans

  2007cited by this paper
• Genome-wide association study for Crohn's disease in the Quebec Founder Population identifies multiple validated disease loci

  2007cited by this paper
• A unique T cell subset described as CD4loCD40+ T cells (TCD40) in human type 1 diabetes.

  2007cited by this paper
• A genome-wide association study for celiac disease identifies risk variants in the region harboring IL2 and IL21

  2007cited by this paper
• NF-{kappa}B is required for STAT-4 expression during dendritic cell maturation.

  2007cited by this paper
• A decade of AIRE

  2007cited by this paper
• A genome-wide association scan of nonsynonymous SNPs identifies a susceptibility variant for Crohn disease in ATG16L1

  2007cited by this paper
• Mutations in the gene encoding the 3′-5′ DNA exonuclease TREX1 are associated with systemic lupus erythematosus

  2007cited by this paper
• Unveiling the roles of autophagy in innate and adaptive immunity

  2007cited by this paper
• High serum IFN-alpha activity is a heritable risk factor for systemic lupus erythematosus.

  2007cited by this paper
• Association of the interleukin‐2 receptor alpha (IL‐2Rα)/CD25 gene region with Graves’ disease using a multilocus test and tag SNPs

  2007cited by this paper
• Sequence variants in the autophagy gene IRGM and multiple other replicating loci contribute to Crohn's disease susceptibility

  2007cited by this paper

• Molecular Dynamics Analysis of Self and Microbial Peptides Bound to HLA-B Protein: A Multi-Parameter Framework

  2026cites this paper
• Putative role of CTLA-4 C318T SNP in type 2 diabetes mellitus—A case control study

  2025cites this paper
• The Impact of Concomitant Hypothyroid Disease on the Course of Inflammatory Bowel Disease

  2025cites this paper
• Comprehensive Profiling of Cytokines and Growth Factors: Pathogenic Roles and Clinical Applications in Autoimmune Diseases

  2025cites this paper
• Trans-ancestry Mendelian Randomization Discovers Novel Causal Genes for Autoimmune Disease Traits

  2025cites this paper
• Systemic Autoimmune Rheumatic Diseases-associated Interstitial Lung Disease

  2025cites this paper
• MDA5 Is a Major Determinant of Developing Symptoms in Critically Ill COVID-19 Patients

  2024cites this paper
• New opportunities in the diagnosis and treatment of inflammatory bowel diseases

  2024cites this paper
• Overview of Autoimmunity: Classification, Disease Mechanisms, and Etiology

  2024influential citation
• OVERVIEW OF CLASS-I TRIPARTITE MOTIF (TRIM) PROTEINS SPECIFICALLY TRIM67

  2024cites this paper
• A Comprehensive Review of Upper Gastrointestinal Symptom Management in Autoimmune Gastritis: Current Insights and Future Directions

  2023cites this paper
• Autoimmunity and hernia mesh: fact or fiction?

  2023cites this paper
• VDR Gene Single Nucleotide Polymorphisms and Autoimmunity: A Narrative Review

  2023cites this paper
• The broad spectrum of autoimmunity, autoimmune polyglandular syndrome, and psoriasis: a case report

  2023cites this paper
• lncRNA involvement in immune-related diseases - from SNP association to implication in pathogenesis and therapeutic potential

  2023cites this paper
• T Helper (Th) Cell Profiles and Cytokines/Chemokines in Characterization, Treatment, and Monitoring of Autoimmune Diseases.

  2023cites this paper
• Delivery route considerations for designing antigen-specific biomaterial strategies to combat autoimmunity.

  2023cites this paper
• Juvenile-onset systemic lupus erythematosus and MEFV polymorphism: A case-control association study among Iranian children.

  2023cites this paper
• Deciphering the mechanism of Ephedra Herba-Armeniacae Semen Amarum herb pairs on COVID-19 by integrated network pharmacology and bioinformatics

  2023cites this paper
• Association of Alopecia Areata with Sensorineural Hearing Loss: A Systematic Review and Meta-analysis

  2023cites this paper
• Comorbid diagnosis of systemic lupus erythematosus in vitiligo: a systematic review and meta-analysis.

  2022cites this paper
• Expression of Autoimmunity-Related Genes in Melanoma

  2022cites this paper
• Myeloid-derived suppressor cell: A crucial player in autoimmune diseases

  2022cites this paper
• Functional Impact of Risk Gene Variants on the Autoimmune Responses in Type 1 Diabetes

  2022cites this paper
• Strong Association of Polymorphism in SPRED2 Gene with Disease Susceptibility and Clinical Characteristics of Rheumatoid Arthritis in the Iranian Population

  2022cites this paper
• El amplio espectro de la autoinmunidad, síndrome poliglandular autoinmune y psoriasis: reporte de un caso

  2022cites this paper
• Inflammatory auto-immune diseases of the intestine and their management by natural bioactive compounds.

  2022cites this paper
• Functional significance of the rare rs35667974 IFIH1 gene polymorphism, associated with multiple autoimmune diseases, using a structural biological approach

  2022cites this paper
• Genetic Polymorphism of PTPN22 in Autoimmune Diseases: A Comprehensive Review

  2022cites this paper
• Gene polymorphisms and their role in autoimmunity

  2022cites this paper
• Therapeutic Approaches for the Management of Autoimmune Disorders via Gene Therapy: Prospects, Challenges, and Opportunities.

  2021cites this paper
• Strong association of common variants in the miRNA-binding site of NOD2 gene with clinicopathological characteristics and disease activity of systemic lupus erythematosus

  2021cites this paper
• Prevalence and Risk Factors Associated with the Occurrence of Autoimmune Diseases in Patients with Alopecia Areata

  2021cites this paper
• Investigation of rs531564 Polymorphism in the Primary MicroRNA-124 Gene in Patients with Systemic Lupus Erythematosus and Rheumatoid Arthritis: Association with Disease Susceptibility and Clinical Characteristics.

  2021cites this paper
• Alopecia Areata: New Treatment Options Including Janus Kinase Inhibitors.

  2021cites this paper
• Autorreactividad, tolerancia y autoinmunidad

  2021cites this paper
• Knowledge and attitudes regarding genetic testing among Jordanians: An approach towards genomic medicine

  2021cites this paper
• Immune Dysfunction and Drug Targets in Autoinflammatory Syndromes

  2021cites this paper
• Three functional variants in the NLRP3 gene are associated with susceptibility and clinical characteristics of systemic lupus erythematosus

  2021cites this paper
• Immunopathology of Celiac Disease

  2021cites this paper
• Calculation of Similarity Between 26 Autoimmune Diseases Based on Three Measurements Including Network, Function, and Semantics

  2021cites this paper
• Involvement of lncRNA IL21-AS1 in interleukin-2 and T follicular regulatory cell activation in systemic lupus erythematosus

  2021cites this paper
• B Cell Activation and Escape of Tolerance Checkpoints: Recent Insights from Studying Autoreactive B Cells

  2021cites this paper
• Primary Biliary Cholangitis

  2021cites this paper
• CJSEP ABP2 testing 2

  2021cites this paper
• Correlation of some Immunological Markers with Systemic Lupus Erythematosus disease

  2020cites this paper
• Understanding the immunopathogenesis of autoimmune diseases by animal studies using gene therapy: A comprehensive review.

  2020cites this paper
• Suppressive Mechanisms Induced by Tregs in Celiac Disease

  2020cites this paper
• Mercury in Pancreatic Cells of People with and without Pancreatic Cancer

  2020cites this paper
• Review on immunity in viral infections

  2020cites this paper
• The African-American population with a low allele frequency of SNP rs1990760 (T allele) in IFIH1 predicts less IFN-beta expression and potential vulnerability to COVID-19 infection

  2020cites this paper
• PDLIM7 Synergizes With PDLIM2 and p62/Sqstm1 to Inhibit Inflammatory Signaling by Promoting Degradation of the p65 Subunit of NF-κB

  2020cites this paper
• Identification of a primary antigenic target of epitope spreading in endemic pemphigus foliaceus.

  2020cites this paper
• Nearest-Neighbor Projected Distance Regression for Epistasis Detection in GWAS With Population Structure Correction

  2020cites this paper
• Intestinal Microbes in Autoimmune and Inflammatory Disease

  2020cites this paper
• Identification of a Novel OX40L+ Dendritic Cell Subset That Selectively Expands Regulatory T-Cells BY ALEJANDRA MARINELARENA

  2020cites this paper
• Systemic autoinflammatory diseases

  2020cites this paper
• Inflammatory bowel disease pathobiology: the role of the interferon signature

  2020cites this paper
• Dietary Habits in Patients with Systemic Lupus Erythematosus

  2020cites this paper
• Pathogenesis and treatment of autoimmune rheumatic diseases

  2019cites this paper
• Adaptive and Innate Immunity in Psoriasis and Other Inflammatory Disorders

  2019cites this paper
• Systemic Lupus Erythematosus

  2019cites this paper
• Genetics of Human SLE

  2019cites this paper
• Cigarette smoke-induced reduction of C1q promotes emphysema.

  2019cites this paper
• Characterization of Peripheral Blood Mononuclear Cells Gene Expression Profiles of Pediatric Staphylococcus aureus Persistent and Non-Carriers Using a Targeted Assay

  2019cites this paper
• Identification of novel susceptibility genes associated with seven autoimmune disorders using whole genome molecular interaction networks.

  2019cites this paper
• A Systems Immunology Approach Identifies Cytokine-Induced STAT Signaling Pathways Critical to Rheumatoid Arthritis Disease Activity and Treatment Response

  2019cites this paper
• Autoimmune Diseases in Patients With Cutaneous Lupus Erythematosus

  2018cites this paper
• The MicroRNA‐326: Autoimmune diseases, diagnostic biomarker, and therapeutic target

  2018cites this paper
• Association study of AFF1 rs340630 polymorphism with genetic susceptibility to rheumatoid arthritis in Chinese population

  2018cites this paper
• Title Classification of inflammatory skin diseases: A proposal based on the disorders of the three-layered defense systems, barrier, innate immunity and acquired immunity

  2018cites this paper
• Signaling and Function of Interleukin-2 in T Lymphocytes.

  2018cites this paper
• Angiotensin-Converting Enzyme Gene I/D Polymorphism Is Associated With Systemic Lupus Erythematosus Susceptibility: An Updated Meta-Analysis and Trial Sequential Analysis

  2018cites this paper
• Kleine-Levin syndrome: clues to aetiology

  2018cites this paper
• Melatonin in regulation of inflammatory pathways in rheumatoid arthritis and osteoarthritis: involvement of circadian clock genes

  2018cites this paper
• The role of IL-16 gene polymorphisms in endometriosis

  2018cites this paper
• Annexin A2 and FTH1 are potential biomarkers for lupus nephritis

  2018cites this paper
• Disease gene identification based on generic and disease-specific genome networks

  2018cites this paper
• MKRN2 is a novel ubiquitin E3 ligase for the p65 subunit of NF-κB and negatively regulates inflammatory responses

  2017cites this paper
• Chapter 73 – Sjögren's Syndrome

  2017cites this paper
• Risk factors for autoimmune-mediated congenital heart block

  2017cites this paper
• Investigation of the genetic overlap between rheumatoid arthritis and psoriatic arthritis in a Greek population

  2017cites this paper
• Genetics of Pediatric Rheumatic Diseases

  2017cites this paper
• [Sjögren's syndrome].

  2017cites this paper
• Association of IRF5 polymorphisms with increased risk for systemic lupus erythematosus in population of Crete, a southern-eastern European Greek island.

  2017cites this paper
• Pharmacogenomics: Clinical Perspective, Strategies, and Challenges

  2017cites this paper
• Lack of association between STAT4 rs7574865 polymorphism and autoimmune diseases including rheumatoid arthritis and systemic sclerosis in Southwest Iran

  2017cites this paper
• Morbid Sequences Suggest Molecular Mimicry between Microbial Peptides and Self-Antigens: A Possibility of Inciting Autoimmunity

  2017cites this paper
• Association of PTPN22 Gene Polymorphisms with Susceptibility to Juvenile Idiopathic Arthritis in Iranian Population

  2017cites this paper
• Association Study of the PTPN22 Gene Polymorphisms with Systemic Lupus Erythematosus in Lorestan Province of Iran

  2017cites this paper
• PREVALENCE OF METABOLIC SYNDROME IN PATIENTS WITH RHEUMATOID ARTHRITIS AND ITS CORRELATION WITH DISEASE ACTIVITY-A CASE CONTROL STUDY

  2017cites this paper
• Mechanisms of tolerance and potential therapeutic interventions in Alopecia Areata.

  2017cites this paper
• Geoepidemiology and the Impact of Sex on Autoimmune Diseases

  2017cites this paper
• Individual immune system responds differently.

  2017cites this paper
• Autoimmunity and Mitochondrial Dysfunction in Chronic Obstructive Pulmonary Disease

  2017cites this paper
• Helminth Immunomodulation in Autoimmune Disease

  2017cites this paper
• Chapter 21 – Genetics of Rheumatic Diseases

  2017cites this paper
• Afridi 1 Immune System and Disorder

  2017cites this paper
• Association of PTPN22 rs2476601 Polymorphism with Rheumatoid Arthritis and Celiac Disease in Khuzestan Province, Southwestern Iran

  2017cites this paper
• Fishing for Genes in Autoimmunity.

  2016cites this paper