Genetics Research
rs1800693
Population Frequencies12
African
T 0.64275C 0.35725TT 0.414659TC/CT 0.456201CC 0.12914pop=62,925
African American
T 0.64262C 0.35738TT 0.414614TC/CT 0.456039CC 0.129347pop=60,737
African Others
T 0.6463C 0.3537TT 0.415905TC/CT 0.460695CC 0.1234pop=2,188
Asian
T 0.85523C 0.14477TT 0.729684TC/CT 0.251095CC 0.019221pop=16,440
East Asian
T 0.8584C 0.1416TT 0.736212TC/CT 0.24438CC 0.019408pop=12,366
European
T 0.588938C 0.411062TT 0.346964TC/CT 0.483948CC 0.169088pop=551,654
Latin American 1
T 0.6182C 0.3818TT 0.386368TC/CT 0.463726CC 0.149906pop=9,566
Latin American 2
T 0.67003C 0.32997TT 0.449709TC/CT 0.440646CC 0.109644pop=20,302
Other
T 0.65179C 0.34821TT 0.434407TC/CT 0.434758CC 0.130835pop=28,494
Other Asian
T 0.8456C 0.1544TT 0.709867TC/CT 0.271478CC 0.018655pop=4,074
South Asian
T 0.6812C 0.3188TT 0.46943TC/CT 0.423576CC 0.106994pop=8,636
Studies20
Unread Studies20 ▼
1
The single-nucleotide polymorphism (SNP) rs1800693 in the tumor necrosis factor receptor 1 (TNFR1) gene leads to the formation of a protein-mimicking effect of TNF-α inhibitors, which are agents used to treat sarcoidosis. We investigated the association between rs1800693 and disease progression in two populations with non-Lofgren sarcoidosis (nLS). We genotyped two nLS cohorts (Ruhrlandklinik, Germany, n = 108, and the HUNT study, Norway, n = 393), and two contr…
2
Evidence on the safety of TNF inhibitors (TNFi) for pregnancy-related maternal and foetal outcomes remains limited. While some studies report increased rates of preterm delivery, others have suggested a possible protective role for gestational diabetes. We used population-level data to examine the effect of genetically proxied TNFi on these outcomes. We proxied TNFi using rs1800693, a splicing variant within the TNFRSF1A gene, which is strongly associated with CRP in a genome-wide association st…
3
Multiple sclerosis (MS) is an autoimmune demyelinating disease of the central nervous system that is caused by a complex interplay of genetic, epigenetic, and environmental factors. To investigate the relationship between serum levels of TNF and TNFRSF1A gene polymorphisms and their impact on the risk and severity of MS. This case-control study included fifty patients with multiple sclerosis, both familial and non-familial, and fifty healthy matched controls. Molecular analysis of TNFRSF1A gene…
4
To investigate the association between genetic polymorphisms in suppressor of cytokine signaling-1 (SOCS-1), tumor necrosis factor-⍺ (TNF-α) and its receptors 1 and 2 (TNFRSF1A and TNFRSF1B), receptor activator of nuclear factor kappa-b (RANK), receptor activator of nuclear factor-kappa B ligand (RANKL) and osteoprotegerin (OPG), and persistent apical periodontitis (PAP). Patients with pulp necrosis and apical periodontitis at the time of non-surgical root canal treatment were follo…
5
The purpose of this study was to evaluate the pharmacogenomics of response to topical ocular tumor necrosis factor α (TNFα) inhibitor licaminlimab in patients with DED. Three single-nucleotide polymorphisms (SNPs) associated with Sjögren syndrome, 3 in the TNFα gene and 1 in the TNF receptor 1 (TNFR1) gene, were assessed for association with response to licaminlimab in participants from a randomized, vehicle-controlled, Phase 2 study in which adults with DED and severe ocu…
6
To investigate if there was an association between genetic polymorphisms in tumour necrosis factor (TNF)-⍺ and its receptors TNFRSF1A and TNFRSF1B with persistent apical periodontitis (PAP) in Brazilian subjects. Patients who had pulpal necrosis and apical periodontitis at the time of treatment, with at least 1-year of follow-up after non-surgical root canal treatment were recalled. Three hundred and seventy eight subjects were included, 150 subjects with signs/symptoms of PAP and 228 sub…
7
To investigate the effect of genetically proxied inhibition of tumor necrosis factor receptor 1 (TNFR1) on the risk of periodontitis. Genetic instruments were selected from the vicinity of TNFR superfamily member 1A (TNFRSF1A) gene (chromosome 12; base pairs 6,437,923-6,451,280 as per GRCh37 assembly) based on their association with C-reactive protein (N= 575,531). Summary statistics of these variants were obtained from a genome-wide association study (GWAS) of 17,353 periodontitis cases and 28,…
8
The goal of the study was to examine whether a genetic polymorphism in tumor necrosis factor receptor 1 (TNFR1) gene impacted the dry eye disease (DED) phenotype and response to anti-inflammatory therapy. The prospective study included 328 individuals with various dry eye (DE) symptoms and signs recruited from the Miami Veterans Hospital eye clinic between October 2013 and October 2017. The population underwent genetic profiling for a polymorphism within the TNFR1 gene (rs1800693 [TT, TC, CC]).…
9
Understanding the predictors of progression from a first to a second demyelinating event (and formerly, a diagnosis of clinically definite multiple sclerosis) is important clinically. Previous studies have focused on predictors within a single domain, e.g. radiological, lacking prospective data across multiple domains. We tested a comprehensive set of personal, environmental, neurological, MRI and genetic characteristics, considered together, as predictors of progression from a first demyelinati…
10
The impact of genetic variants in the expression of tumor necrosis factor-α (TNF-α) and its receptors in coronavirus disease 2019 (COVID-19) severity has not been previously explored. We evaluated the association of TNF (rs1800629 and rs361525), TNFRSF1A (rs767455 and rs1800693), and TNFRSF1B (rs1061622 and rs3397) variants with COVID-19 severity, assessed as invasive mechanical ventilation (IMV) requirement, and the plasma levels of soluble TNF-α, TNFR1, and TNFR2 in patients…
11
Tumor necrosis factor (TNF) is a potent inflammatory cytokine that has been causally associated with coronary artery disease (CAD) and ischemic stroke (IS), implying opportunities for disease prevention by anti-TNF therapeutics. Leveraging summary statistics of several genome-wide association studies (GWAS), we assessed the repurposing potential of TNF inhibitors for CAD and IS using drug-target Mendelian randomization (MR) design. Pharmacologic blockade of the pro-inflammatory TNF signalling me…
12
Several genes have been associated with breast cancer (BC) susceptibility. The tumor necrosis factor receptor superfamily, member 1A (TNFRSF1A), and interferon lambda receptor 1 (IFNLR1) genes encode receptors that mediate the action of inflammatory cytokines. Previous studies have demonstrated the association of the variants rs1800693 (TNFRSF1A) and rs4649203 (IFNLR1) with some inflammatory diseases. The present study aimed to verify a possible association of these variants with BC, its clinica…
13
Multiple Sclerosis (MS) is a complex chronic neurodegenerative disorder resulting from an autoimmune reaction against myelin. So far, many genetic variants have been reported to associate with MS risk however their association is inconsistent across different populations. Here we investigated the association of the most consistently reported genetic MS risk variants in the Kuwaiti MS population in a case-control study designs. Of the 94 reported MS risk variants four variants showed MS risk asso…
14
Antitumor necrosis factor (TNF) treatment is an effective third-line treatment option in severe sarcoidosis. But not all patients respond to treatment. Pharmacogenetics studies the influence of genetic variations on treatment response. In sarcoidosis, only one study reported on a relationship between genetic variation in TNF and response to anti-TNF therapy. In immune-mediated inflammatory diseases (IMIDs) other than sarcoidosis, several genetic variants were associated with response to anti-TNF…
15
Genetic polymorphism (rs1800693) of TNFRSF1A (type 1 tumour necrosis factor receptor) encodes a potentially anti-inflammatory soluble truncated form of the p55 receptor, which is associated with predisposition to multiple sclerosis but protection against ankylosing spondylitis (AS). We analysed 2917 UK Caucasian cases by linear and logistic regression for associations of rs1800693 with disease severity assessed by the Bath Ankylosing Spondylitis measures of disease activity and function (BASDAI,…
16
Tumour necrosis factor (TNF)-mediated signalling plays a key role in inflammatory and neurodegenerative processes leading to the development of multiple sclerosis (MS). Recent studies have highlighted the role of tumour necrosis factor receptor superfamily member 1A (TNFRSF1A) gene encoding the type 1 TNF receptor in the genetic predisposition to MS. This study aimed to validate the association of TNFRSF1A rs1800693 and rs4149584 polymorphisms with susceptibility to MS in the Slovak population a…
17
Previous studies have shown associations of polymorphisms in the tumor necrosis factor (TNF) receptor super family member 1A (TNFRSF1A) gene with several groups of inflammatory and autoimmune related diseases, but associations of TNFRSF1A polymorphisms with autoimmune thyroid diseases (AITD), mainly including two sub-types of Hashimoto's thyroiditis (HT) and Graves' disease (GD), in the Chinese Han population is unclear. A case-control study of 1812 subjects (965 AITD patients and 847 unrelated…
18
Multiple sclerosis (MS) is considered a chronic autoimmune disease of the central nervous system that leads to gliosis, demyelination, axonal damage and neuronal death. The MS disease aetiology is unknown, though a polymorphism of the TNFRSF1A gene, rs1800693, is known to confer an increased risk for MS. Using retroviral delivery of reprogramming transgenes, we generated six MS patient-specific iPSC lines with two distinct genotypes, CC or TT, of the polymorphism rs1800693. iPSC lines had normal…
19
To study the association of polymorphisms in the IL2RA and TNFRSF1A genes with severity and early clinical manifestations of remitted multiple sclerosis (MS). Five hundred and eight patients of Russian ethnicity with bout-onset MS were genotyped for IL7RA (rs6897932), IL2RA (rs2104286) and TNFRSF1A (rs1800693) polymorphisms. Association analysis of the gene variants with disease severity, variants of MS manifestation, and first remission duration was performed. Dividing the MS patients by diseas…
20
TNF-α and IFN-γ play a role in the development of mucosal damage in celiac disease (CD). Polymorphisms of TNFA and IFNG genes, as well as of the TNFRSF1A gene, encoding the TNF-α receptor 1, might underlie different inter-individual disease susceptibility over a common HLA risk background. The aims of this study were to ascertain whether five SNPs in the TNFA promoter (-1031T>C,-857C>T,-376G>A,-308G>A,-238G>A), sequence variants of the TNFRSF1A gene and IFNG +874…
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