Genetics Research
rs2066808
Gene: STAT2 — Signal Transducer And Activator Of Transcription 2
Chr 12:56344189
12q13.3
Intron Variant
Population Frequencies12
African
A 0.48496G 0.51504AA 0.237083AG/GA 0.495748GG 0.267169pop=55,508
African American
A 0.48844G 0.51156AA 0.240388AG/GA 0.496103GG 0.263509pop=53,630
African Others
A 0.3855G 0.6145AA 0.142705AG/GA 0.485623GG 0.371672pop=1,878
Asian
A 0.95967G 0.04033AA 0.921753AG/GA 0.075829GG 0.002419pop=14,058
East Asian
A 0.9688G 0.0312AA 0.938162AG/GA 0.061271GG 0.000567pop=10,576
European
A 0.931829G 0.068171AA 0.86851AG/GA 0.126637GG 0.004853pop=533,744
Latin American 1
A 0.8213G 0.1787AA 0.674637AG/GA 0.293249GG 0.032114pop=8,532
Latin American 2
A 0.92321G 0.07679AA 0.85266AG/GA 0.141106GG 0.006234pop=19,248
Other
A 0.90602G 0.09398AA 0.827774AG/GA 0.156503GG 0.015724pop=27,220
Other Asian
A 0.9319G 0.0681AA 0.871913AG/GA 0.120046GG 0.008041pop=3,482
South Asian
A 0.9781G 0.0219AA 0.956957AG/GA 0.042292GG 0.000751pop=7,992
Studies8
Unread Studies8 ▼
1
Psoriasis is an immune-mediated disease affecting primarily the skin and joints, but which also has systemic implications. There are assumptions about a common genetic background between psoriasis and cardiovascular diseases. This narrative review aims to provide an overview of the existing data regarding the IL-23 rs2066808, IL-23R rs2201841, IL-17RA rs4819554, and IL-17A rs2275913 polymorphisms and their link to psoriasis and cardiovascular diseases. PubMed, Web of Science, Scopus, and "SNPedi…
2
Interleukin-23 (IL-23) has been associated with atherosclerosis in both humans and animal models with contradictory results. This cytokine is conformed by an α p19 (encoded by IL-23A gene) and a β p40 subunit (encoded by IL-12B gene). The aim of this study was to evaluate the association of two polymorphisms located within (rs11171806) or near (rs2066808) of the IL-23A gene with the presence of premature coronary artery disease (CAD) and with cardiometabolic parameters. The rs2066808…
3
Psoriatic arthritis (PsA) is a chronic skin and joint condition that considerably affects patient quality of life. Several studies have demonstrated different associations of genetic polymorphisms in the pathogenic process of PsA. Therefore, we conducted a meta-analysis to estimate the effect of polymorphisms in the cytokines TNF, IL12B, IL23A, and IL23R on PsA risk. We screened 1,097 abstracts and identified 14 relevant studies published between January 2007 and December 2017. A systematic sear…
4
Multiple sclerosis is among the most serious inflammatory demyelinating diseases (IDD). Interleukin-23A (IL23A) regulates and coordinates the activities of immune cells by interacting with its receptor IL23R and plays key roles in the pathogenesis of immune inflammatory diseases. IDD, deemed to be a kind of autoimmune diseases, may involve IL23A in the pathogenesis. The aim of this work was to validate the hypothesized involvement of IL-23A and its receptor in IDD. We sequenced the IL-23A and IL…
5
Common DNA variants in IL12B, IL23R and IL23A have been associated with an increased susceptibility to psoriasis (Ps) and psoriatic arthritis (PsA). Metabolic comorbidities and cardiovascular risk factors have also been associated to both Ps and PsA. To analyze the effect of single nucleotide polymorphisms (SNPs) previously linked to Ps (IL12B rs6887695 and rs3212227, IL23R rs2201841 and rs11209026, and IL23Ars2066808) in the main phenotype and metabolic/cardiovascular characteristics among Ps p…
6
The cytokines IL12 and IL23 have been recently implicated in the pathogenesis of psoriatic arthritis (PsA). In this study we investigated the genetic variations in the genes coding for IL12, IL23 and IL23 receptor as a plausible source of susceptibility and modification of clinical symptoms of PsA in Romanian population. Twenty five SNPs mapping to IL12A, IL12B, IL23A, IL23R and IL12RB1 genes were genotyped in 94 PsA patients and 161 healthy controls of Romanian ethnicity using the Sequenom geno…
7
The Interleukin 23 (IL-23) has a central role in autoimmunity. Allelic variants of p19 subunit of IL-23 (IL23A) and IL-23 receptor (IL23R) genes and increased IL-23 serum concentrations were associated with autoimmune diseases. We therefore searched for variants of IL23A and IL23R that could predispose to Type 1 diabetes (T1D). The coding regions and boundary intron sequences of IL23A were sequenced. Variants of IL23A and of IL23R were also genotyped. Pancreatic and extrapancreatic autoantibodie…
8
To investigate a shared genetic aetiology for skin involvement in psoriasis and psoriatic arthritis (PsA) by genotyping single-nucleotide polymorphisms (SNPs), reported to be associated in genome-wide association studies of psoriasis, in patients with PsA. SNPs with reported evidence for association with psoriasis were genotyped in a PsA case and control collection from the UK and Ireland. Genotype and allele frequencies were compared between PsA cases and controls using the Armitage test for tr…
Curated Studies0 ▼
These studies were determined to be useful for this variant — check "Unused Studies" further down if curious what didn't make the cut.
No curated studies yet.
Unused Studies0 ▼
No unused studies.