Autoantibodies rheumatoid arthritis genetics genotype disease susceptibility. Medical search. Frequent questions

Genetic susceptibility factors in a cohort of 38 patients with SAPHO syndrome: a study of PSTPIP2, NOD2, and LPIN2 genes. (cdc.gov)
However, it is unknown whether genetic susceptibility to T1D also contributes to shaping the microbial communities of high-risk individuals, and whether the enteric dysbiosis seen in T1D is a cause or effect of the disease, and the immune dysregulation associated with its development. (biomedcentral.com)
However, there is no study specifically addressing the genetic susceptibility in pSS combined with PAH. (biomedcentral.com)
The aim of this study was to explore the genetic susceptibility of pSS-PAH and to establish a preliminary understanding on the association between genotypes and clinical phenotypes. (biomedcentral.com)

South African Medical Research Council Centre for Tuberculosis Research, Division of Molecular Biology and Human Genetics, Faculty of Medicine and Health Sciences, Stellenbosch University, Cape Town, South Africa. (wroc.pl)

In Japan it confers susceptibility to juvenile diabetes likely via the DR4 gene. (wikipedia.org)
Familial Mediterranean fever in Syrian patients: MEFV gene mutations and genotype-phenotype correlation. (cdc.gov)
Mannose-binding lectin gene polymorphisms are associated with disease activity and physical disability in untreated, anti-cyclic citrullinated peptide-positive patients with early rheumatoid arthritis. (cdc.gov)
Association of the CCR5 gene with juvenile idiopathic arthritis. (cdc.gov)
The spectrum of MEFV gene mutations and genotypes in Van province, the eastern region of Turkey, and report of a novel mutation (R361T). (cdc.gov)
At this point an interesting cost and a computationally effective alternative would be to combine genotype imputation with targeted sequencing in a gene-centered strategy. (frontiersin.org)
In humans, polymorphisms in or near the TNFAIP3/A20 gene have been linked to various inflammatory disorders, including systemic lupus erythematosus (SLE) and rheumatoid arthritis (RA). (bvsalud.org)
Experimental gene knockout studies in mice have confirmed A20 as a susceptibility gene for SLE and RA. (bvsalud.org)
Fcrl5-a gene whose homologs are associated with human autoimmune diseases-is highly expressed in age/autoimmunity-associated B cells (ABCs), an autoreactive B cell subset. (bvsalud.org)
Genetic diseases can be classified as chromosomal abnormalities (for example, trisomy 21), Mendelian disorders (single gene alterations with typical inheritance patterns, like autosomal dominant/recessive or X-linked), and complex diseases that are influenced by many genetic and environmental components. (biomedcentral.com)
The genetic contributions to these disorders are not attributable to a single gene alteration, but rather to a host of genetic susceptibilities defined by single nucleotide polymorphisms (SNPs) that predispose an individual to a disease. (biomedcentral.com)
Association between a single nucleotide polymorphism of the ALOX5 gene and susceptibility to multisystem tuberculosis in a Chinese Han population. (wroc.pl)

In patients with suggestive clinical findings, a family history of autoimmune disease should raise further suspicion of SLE. (medscape.com)
TGF beta1 polymorphisms are candidate predictors of the clinical response to rituximab in rheumatoid arthritis. (cdc.gov)
Although genetic variation within the major histocompatibility complex (MHC) is associated with SLE, its role in the development of clinical manifestations and autoantibody production is not well defined. (cdc.gov)
Although patients may differ in their clinical manifestations, patients do share a propensity to develop autoantibodies directed against nucleic acids and associated nuclear and cellular proteins. (cdc.gov)
Our aim was to discover genetic loci within the MHC region that are associated with specific clinical and/or immunological manifestations within SLE cases and hence to find evidence of genetic variants that may drive specific forms of the disease. (cdc.gov)
Spondyloarthropathies (SpA) encompass a group of chronic inflammatory diseases sharing common genetic and clinical features, including the association with HLA-B27 antigen, the involvement of both the axial and the peripheral skeleton, the presence of dactylitis, enthesitis, and typical extra-articular manifestations such as psoriasis, inflammatory bowel disease, and acute anterior uveitis (AAU). (hindawi.com)
Spondyloarthropathies (SpA) embrace different chronic inflammatory diseases sharing common genetic (association with HLA-B27 antigen) and clinical features. (hindawi.com)
A role for the microbiota in T1D etiology is suggested by studies that demonstrate changes in the microbial communities prior to clinical disease onset. (biomedcentral.com)
A recent longitudinal study of Finnish children at risk of T1D found a drop in bacterial diversity prior to the development of clinical disease [ 6 ]. (biomedcentral.com)
In the case of systemic lupus erythematosus (SLE) and related illnesses, many of the HLA class II alleles are associated with the presence of specific autoantibodies or clinical phenotypes. (musculoskeletalkey.com)
Clinical Microbiology and Infection: The Official Publication of the European Society of Clinical Microbiology and Infectious Diseases 2017, 23, 968-973. (iame-research.center)
Any of a group of malignant tumors of lymphoid tissue that differ from HODGKIN DISEASE, being more heterogeneous with respect to malignant cell lineage, clinical course, prognosis, and therapy. (lookformedical.com)

Dysbiosis of the gut microbiota has been described in multiple inflammatory and immune-mediated diseases including rheumatoid arthritis, ulcerative colitis, Crohn's disease ankylosing spondylitis, and type 1 diabetes (T1D). (biomedcentral.com)

Association of Killer Cell Immunoglobulin- Like Receptor Genes in Iranian Patients with Rheumatoid Arthritis. (cdc.gov)
Polymorphisms in DNA repair genes XRCC1 and OGG1 lead to the progression of rheumatoid arthritis in Pakistani patients. (cdc.gov)
Namely, a significant portion of the inherited susceptibility to common diseases may be due to summation of the effects of a series of low-frequency dominantly and independently acting variants of a variety of different genes. (nature.com)
In addition we also find that there is a significant enrichment of genes annotated for disease-causing mutations in the OMIM database, suggesting that in complex diseases such as SLE, such mutations may be involved in subtle or combined phenotypes or could accelerate specific organ abnormalities found in the disease. (frontiersin.org)
It is now accepted that rare variants located in different genes could in fact play a more important role in disease susceptibility than common variants ( 4 ). (frontiersin.org)
Recently, we have implemented and successfully applied a method based on genotype imputation of rare variation, on a set of genes detected by exome sequencing as possible candidates for association to systemic lupus erythematosus (SLE) by mutation in members of Icelandic SLE-multicase families ( 15 ). (frontiersin.org)
The candidate pathogenic genes may be the potential genetic markers for early warning of this disease. (biomedcentral.com)
Studies investigating these genetic traits are complicated, because there are many genes that influence the risk for complex diseases, yet the impact of each single genetic variant by itself is small. (biomedcentral.com)
At a very basic level, we are learning who likes to work with whom to regulate around 20,000 human genes," said Michael Snyder , PhD, professor and chair of genetics at Stanford. (pharmaceuticalintelligence.com)

DQ4 is associated with: juvenile diabetic retinopathy The DR8-DQ4 haplotype is associated with papillary thyroid carcinomas juvenile idiopathic arthritis via DR8 allele, chronic chlamydia infection, possibly pemphigus DR4-DQ4(DRB1*0405:DQB1*0401) is associated with: autoimmune pancreatitis, juvenile type 1 diabetes, rheumatoid arthritis in Japanese. (wikipedia.org)
Influence of Matrix metalloproteinase 1 and 3 genetic variations on susceptibility and severity of juvenile idiopathic arthritis. (cdc.gov)

See Cutaneous Clues to Accurately Diagnosing Rheumatologic Disease , a Critical Images slideshow, to help recognize cutaneous manifestations of rheumatologic diseases. (medscape.com)
Familiarity with the diagnostic criteria helps clinicians to recognize SLE and to subclassify this complex disease based on the pattern of target-organ manifestations. (medscape.com)
See Rheumatoid Arthritis: In and Out of the Joint , a Critical Images slideshow, to help identify the distinguishing features of RA as well as the signs of extra-articular manifestations of this disfiguring disease. (medscape.com)
The disease course is usually complicated by extra-articular manifestations (EAMs), such as psoriasis, inflammatory bowel disease (IBD), and acute anterior uveitis (AAU) [ 2 ]. (hindawi.com)

Introduction of disease protective alleles at the Idd3 and Idd5 loci ( IL2 , Ctla4 , Slc11a1 , and Acadl ) resulted in significant alterations in the NOD microbiome. (biomedcentral.com)
Increased T1D disease risk from IL-2 pathway loci in the TwinsUK cohort of human subjects resulted in some similar microbiota changes to those observed in the NOD mouse. (biomedcentral.com)
In other autoimmune diseases such as Crohn's disease, specific genetic loci associated with disease susceptibility have been shown to influence the gut environment and lead to shifts in the resident microbial populations [ 11 ]. (biomedcentral.com)
Our findings provide preliminary data of exome sequencing to identify susceptibility loci for pSS-PAH and enriched our understanding of the genetic etiology for pSS-PAH. (biomedcentral.com)

In addition to influencing immune response patterns, many of these alleles are associated with susceptibility to a wide spectrum of autoimmune diseases, making the MHC an essential starting point for anyone wanting to understand the genetics of rheumatic diseases. (musculoskeletalkey.com)

We conducted a meta-analysis of four independent European SLE case collections for associations between SLE sub-phenotypes and MHC single-nucleotide polymorphism genotypes, human leukocyte antigen (HLA) alleles and variant HLA amino acids. (cdc.gov)
13 Our study substantially expands this work by not only analysing imputed classical human leukocyte antigen (HLA) alleles, but also examining variant HLA amino-acid positions in conjunction with single-nucleotide polymorphism (SNP) genotypes across the extended MHC region (chromosome 6: 26-34 Mb). (cdc.gov)

The DQA1*0303:DQB1*04 haplotype is associated with: Crohn's disease in Japanese. (wikipedia.org)

A three-way interplay of DR4, autoantibodies and synovitis in biopsy-proven idiopathic inflammatory myositis. (cdc.gov)

The management of SpA has dramatically improved over the last decades due to the development of new treat-to-target strategies and to the introduction of biologic disease modifying antirheumatic drugs (bDMARDs), particularly tumor necrosis factor alpha inhibitors (TNFis), currently used for the treatment of nonresponder patients to conventional synthetic agents. (hindawi.com)
Among biologic disease modifying antirheumatic drugs (bDMARDs), tumor necrosis factor alpha inhibitors (TNFis) are currently widely used for the treatment of SpA. (hindawi.com)

These data suggest that reduced diversity and/or a change in metabolic function of the gut microbiota may be associated with disease progression in T1D. (biomedcentral.com)
It is vital to establish accurate tools to identify those patients at highest risk for disease severity or progression in order to determine who are in need of immediate therapies. (biomedcentral.com)
Ideally, biomarkers can be used to predict disease progression and treatment response, but these studies will take many years due to the requirement for lengthy follow-up periods to assess outcomes. (biomedcentral.com)
This review will focus on the contribution of high-throughput genomic and proteomic approaches to the study of fibrogenesis and fibrosis progression, concentrating on the most prevalent human chronic liver diseases and findings from animal models in liver tissue, isolated liver cells, cell lines and serum. (biomedcentral.com)

Rheumatoid arthritis (RA) is a multifactorial and systemic autoimmune disease and characterized by synovial inflammation and hyperplasia, autoantibody production, cartilage and bone destruction and systemic features including cardiovascular, pulmonary, psychological and skeletal disorders. (nature.com)
The latter is commonly reported as a noninfectious acute inflammation of the anterior uveal tract and its adjacent structures, which may affect more than 20% of SpA patients representing the most common EAM of the disease [ 3 ]. (hindawi.com)

My research interests are in several areas including chronic inflammatory diseases such as atherosclerosis and rheumatoid arthritis. (edu.au)

Granulomatosis with polyangiitis (GPA), formerly known as Wegener granulomatosis, is a rare multisystem autoimmune disease of unknown etiology. (medscape.com)

The course of the disease and its severity can vary over time, even in the same individual. (ndnr.com)

Brief report: Assessment of mucosal barrier integrity using serological biomarkers in preclinical stages of rheumatoid arthritis. (resist-cluster.de)

Graves disease is an autoimmune disorder characterized by hyperthyroidism due to circulating autoantibodies. (medscape.com)
Rheumatoid arthritis (RA) is an inflammatory autoimmune disorder that affects joints as well as other organs and systems. (jscimedcentral.com)

Deep exon sequencing has been used for detecting rare/low-frequency variants related to common diseases. (nature.com)
Exome sequencing has been introduced to identify causative- or susceptible- rare/low-frequency variants in Mendelian diseases and common diseases, and numerous successful results have been reported. (nature.com)
Genome-wide association studies have been designed primarily to capture common variation and so far some 10,000 common genetic variants have been robustly associated with a wide range of complex diseases ( 1 ). (frontiersin.org)
For small effect sizes association testing may require composite tests of overall "mutational load," pooling rare variants for analysis by addressing the question: do rare variants increase or decrease disease risk? (frontiersin.org)
Whole-exome sequencing is a cost-effective alternative, however one of its obvious drawback is the absence of variants in non-coding regions, which may be especially relevant in the context of complex disease genetics. (frontiersin.org)
Furthermore, genetic variants impairing the deubiquitinase (DUB) function of A20 have been shown to contribute to autoimmune susceptibility. (bvsalud.org)

Graves disease is associated with pernicious anemia , vitiligo , diabetes mellitus type 1 , autoimmune adrenal insufficiency , systemic sclerosis , myasthenia gravis , Sjögren syndrome , rheumatoid arthritis , and systemic lupus erythematosus . (medscape.com)
SS is among the most common autoimmune diseases, along with systemic lupus erythematosus and progressive systemic sclerosis. (biomedcentral.com)

The American College of Rheumatology (ACR) and the European League Against Rheumatism (EULAR) define RA as a chronic inflammatory disease characterized by joint swelling, joint tenderness, and destruction of synovial joints, leading to severe disability and premature mortality [1]. (jscimedcentral.com)

Thus, great opportunities and challenges lie ahead in the field of genomics and proteomics, which, if successful, could transform the diagnosis and treatment of chronic fibrosing liver diseases. (biomedcentral.com)
Uses for the reaction include disease diagnosis, detection of difficult-to-isolate pathogens, mutation analysis, genetic testing, DNA sequencing, and analyzing evolutionary relationships. (lookformedical.com)

SLE is a chronic inflammatory disease that can affect almost any organ system, although it mainly involves the skin, joints, kidneys, blood cells, and nervous system. (medscape.com)
Rheumatoid arthritis (RA) is a chronic systemic inflammatory disease of unknown cause. (medscape.com)

This umbrella term consists of more than 100 different diseases or conditions that destroy joints, bones, muscles, cartilage and other connective tissues, hampering or halting physical movement. (jscimedcentral.com)

Exome sequencings were conducted using 59 patients having rheumatoid arthritis (RA) and 93 controls. (nature.com)
In some patients, Graves disease represents a part of more extensive autoimmune processes leading to dysfunction of multiple organs (eg, polyglandular autoimmune syndromes ). (medscape.com)
Clearly, DH is a chronic disease, but in some patients it has a continuous and more severe character, while in others it seems to be more sporadic and relapsing-remitting in nature. (ndnr.com)
AAU may affect more than 20% of SpA patients representing the most common extra-articular manifestation of the disease. (hindawi.com)
Westermann D, Neumann JT, Sorensen NA, Blankenberg S. High-sensitivity assays for troponin in patients with cardiac disease. (krasgmu.ru)

This complexity suggests that the causes of dysbiosis in diseases such as T1D are likely to be multifactorial. (biomedcentral.com)

Also, see the Autoimmune Disorders: Making Sense of Nonspecific Symptoms slideshow to help identify several diseases that can cause a variety of nonspecific symptoms. (medscape.com)
The principal symptoms are inflammatory chronic back pain, peripheral arthritis (typically asymmetric monoarthritis or oligoarthritis predominantly affecting the joints of the lower extremities), dactylitis, and enthesitis [ 1 ]. (hindawi.com)

I am also actively researching the role of the immunity in cancer and neuroinflammatory diseases. (edu.au)

Evans TM, Jaramillo CA, Sataranatarajan K, Watts L, Sabia M, Qi W, Van Remmen H. The effect of mild traumatic brain injury on peripheral nervous system pathology in wild-type mice and the G93A mutant mouse model of motor neuron disease. (omrf.org)

The aggregation of SNVs in the mitochondria respiratory chain suggests the pivotal role of those SNVs in the pathogenesis of RA with severe erosive arthritis. (nature.com)
Among these common types of arthritis, RA has probably received the greatest attention due to the progressive nature of its pathogenesis and its tremendous impact on public health and socioeconomics. (jscimedcentral.com)
Here, we demonstrated that Fc receptor-like 5 (Fcrl5) upregulation contributes to autoimmune disease pathogenesis by disrupting B cell anergy. (bvsalud.org)
This study provides important insights into the role of Fcrl5 in breaking B cell anergy and its effect on the pathogenesis of autoimmune diseases. (bvsalud.org)

There are 2.5 times as many women as men with the disease, suggesting the possible involvement of sex hormones in disease genesis. (jscimedcentral.com)

For dense genotyping arrays, imputation is able to predict nearly all missing common variation with high accuracy, but as the variant minor allele frequency (MAF) decreases, so does the accuracy of imputation, depending mainly on the size of the reference panel and the ancestry of the imputed samples, with the best efficiencies in European cohorts, mainly due to the sufficiently large size of the European reference panels ( 7 - 13 ). (frontiersin.org)
Although many commercial arrays exist for genome-wide SNP genotyping, they were designed for medical genetic studies and contain medically related markers that are not appropriate for global population genetic studies. (blogspot.com)

Systemic lupus erythematosus (SLE) is a clinically heterogeneous disease affecting multiple organ systems and characterized by autoantibody formation to nuclear components. (cdc.gov)
1 The disease is clinically heterogeneous, and affected individuals only need 4 out of 11 of the American College of Rheumatology (ACR) criteria to be classified as having SLE. (cdc.gov)
In this contest of very heterogeneous disease phenotype, the importance of personalised multidisciplinary management of the disease is mandatory. (hindawi.com)

In some, this immune system mobilization is "overexpressed", and can result in a severe and highly lethal respiratory disease. (mthfrsupport.com)
This severe respiratory disease is characterized by a prominent pro-inflammatory response (cytokine storm), and is referred to a bilateral pneumonia. (mthfrsupport.com)

An association was observed between NDUFA7 and RA with severe erosive arthritis. (nature.com)

Primary Sjögren's syndrome (pSS) is an autoimmune connective tissue disease (CTD) characterized by exocrine gland dysfunction, resulting predominately in dryness of the mouth and eyes [ 1 ]. (biomedcentral.com)
Clinically, I am interested in the consequences of inflammatory diseases on the CNS, vasculitides as well as treatment of connective tissue diseases. (edu.au)

The importance of low frequency and rare variation in complex disease genetics is difficult to estimate in patient populations. (frontiersin.org)

Of the 11 American College of Rheumatology criteria and 7 autoantibody sub-phenotypes examined, anti-Ro/SSA and anti-La/SSB antibody subsets exhibited the highest number and most statistically significant associations. (cdc.gov)

These studies indicate that in the steady state, NOD mice harbor a "diabetes-permissive" microbiota, and major perturbations in the microbiota can both reduce and accelerate disease. (biomedcentral.com)

Arthritis is a complex family of musculoskeletal disorders with many causes, not yet fully understood, and so far there are no cures. (jscimedcentral.com)

Liver fibrosis is a complex disease provoked by a range of chronic injuries to the liver, among which are viral hepatitis, (non-) alcoholic steatohepatitis and autoimmune disorders. (biomedcentral.com)
Fibrosis is prominent in chronic liver diseases, including viral hepatitis, alcoholic and non-alcoholic steatohepatitis, toxic liver injury, auto-immune diseases and several genetic diseases. (biomedcentral.com)
Degenerative diseases like liver fibrosis are complex illnesses [ 3 ]. (biomedcentral.com)

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