|
Rheumatoid Arthritis
|
|
0.830 |
GeneticVariation
|
BEFREE |
Finally, in a phenome-wide association study (PheWAS) assessing >500 phenotypes using electronic medical records (EMR) in >29,000 subjects, we found no convincing evidence for association of P1104A and A928V with complex phenotypes other than autoimmune diseases such as RA, SLE and IBD.
|
25849893 |
2015 |
|
Rheumatoid Arthritis
|
|
0.830 |
GeneticVariation
|
BEFREE |
Computational Molecular Phenotypic Analysis of PTPN22 (W620R), IL6R (D358A), and TYK2 (P1104A) Gene Mutations of Rheumatoid Arthritis.
|
30899276 |
2019 |
|
Rheumatoid Arthritis
|
|
0.830 |
GeneticVariation
|
GWASDB |
High-density genetic mapping identifies new susceptibility loci for rheumatoid arthritis.
|
23143596 |
2012 |
|
Rheumatoid Arthritis
|
|
0.830 |
GeneticVariation
|
GWASCAT |
High-density genetic mapping identifies new susceptibility loci for rheumatoid arthritis.
|
23143596 |
2012 |
|
Rheumatoid Arthritis
|
|
0.830 |
GeneticVariation
|
BEFREE |
Genetic overlap between PsA and RA was detected for the rs34536443 SNP of the TYK2 gene within a Greek population.
|
27440135 |
2017 |
|
Psoriasis
|
|
0.810 |
GeneticVariation
|
GWASDB |
Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity.
|
23143594 |
2012 |
|
Psoriasis
|
|
0.810 |
GeneticVariation
|
BEFREE |
No significant changes in p-STAT4 for the psoriasis-associated variant rs34536443 was found.
|
29728633 |
2018 |
|
Oligoarticular Juvenile Idiopathic Arthritis
|
|
0.800 |
GeneticVariation
|
GWASDB |
Dense genotyping of immune-related disease regions identifies 14 new susceptibility loci for juvenile idiopathic arthritis.
|
23603761 |
2013 |
|
Primary biliary cirrhosis
|
|
0.800 |
GeneticVariation
|
GWASDB |
Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis.
|
22961000 |
2012 |
|
Oligoarticular Juvenile Idiopathic Arthritis
|
|
0.800 |
GeneticVariation
|
GWASCAT |
Dense genotyping of immune-related disease regions identifies 14 new susceptibility loci for juvenile idiopathic arthritis.
|
23603761 |
2013 |
|
Autoimmune Diseases
|
|
0.750 |
GeneticVariation
|
BEFREE |
Cytokine responses for two associated variants (R231W, rs201917359; and R703W, rs55882956) in <i>TYK2</i> as well as a previously reported risk variant (P1004A, rs34536443) for multiple autoimmune diseases were evaluated by reporter assays.
|
31118190 |
2019 |
|
Autoimmune Diseases
|
|
0.750 |
GeneticVariation
|
BEFREE |
Genome wide association studies have linked a SNP (rs34536443) within <i>TYK2</i> encoding a Proline to Alanine substitution at amino acid 1104, to protection from multiple autoimmune diseases including systemic lupus erythematosus (SLE) and multiple sclerosis (MS).
|
30740104 |
2019 |
|
Autoimmune Diseases
|
|
0.750 |
GeneticVariation
|
GWASCAT |
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
|
30595370 |
2019 |
|
Autoimmune Diseases
|
|
0.750 |
GeneticVariation
|
BEFREE |
In this study, we characterized two rare Tyk2 variants, I684S and P1104A, which have been associated with susceptibility to autoimmune disease.
|
23359498 |
2013 |
|
Autoimmune Diseases
|
|
0.750 |
GeneticVariation
|
BEFREE |
Finally, in a phenome-wide association study (PheWAS) assessing >500 phenotypes using electronic medical records (EMR) in >29,000 subjects, we found no convincing evidence for association of P1104A and A928V with complex phenotypes other than autoimmune diseases such as RA, SLE and IBD.
|
25849893 |
2015 |
|
Autoimmune Diseases
|
|
0.750 |
GeneticVariation
|
BEFREE |
Our MD results provided information, at atomic level, on the consequences of the Pro1104 to Ala substitution on the structure and dynamics of the kinase domain of Tyk2 and suggested reduced enzymatic activity of the resulting protein variant due to stabilization of inactive conformations, thus adding to knowledge towards the elucidation of the protection mechanism against autoimmune diseases associated with this point mutation.
|
30423093 |
2018 |
|
Lupus Erythematosus, Systemic
|
|
0.730 |
GeneticVariation
|
BEFREE |
Genome wide association studies have linked a SNP (rs34536443) within <i>TYK2</i> encoding a Proline to Alanine substitution at amino acid 1104, to protection from multiple autoimmune diseases including systemic lupus erythematosus (SLE) and multiple sclerosis (MS).
|
30740104 |
2019 |
|
Multiple Sclerosis
|
|
0.730 |
GeneticVariation
|
BEFREE |
These findings suggest that the rs34536443 variant effect on multiple sclerosis susceptibility might be mediated by deviating T lymphocyte differentiation toward a Th2 phenotype.
|
21354972 |
2011 |
|
Multiple Sclerosis
|
|
0.730 |
GeneticVariation
|
BEFREE |
A rare functional variant within the TYK2 gene (rs34536443) has been reported as protective in multiple sclerosis (MS) in recent studies.
|
19888296 |
2010 |
|
Lupus Erythematosus, Systemic
|
|
0.730 |
GeneticVariation
|
BEFREE |
SLE protection was associated with TYK2 risk infection variants affecting residually its catalytic domain, rs12720356 (OR = 0.308; p = 0.041) and rs34536443 (OR = 0.370; p = 0.034), but not with rs2304256, rs12720270, and rs280500.
|
31434951 |
2019 |
|
Lupus Erythematosus, Systemic
|
|
0.730 |
GeneticVariation
|
BEFREE |
Second, we show that the same three TYK2 variants protect against systemic lupus erythematosus (SLE, Pomnibus = 6 x 10(-18)), and provide suggestive evidence that two of the TYK2 variants (P1104A and A928V) may also protect against inflammatory bowel disease (IBD; P(omnibus) = 0.005).
|
25849893 |
2015 |
|
Multiple Sclerosis
|
|
0.730 |
GeneticVariation
|
BEFREE |
Genome wide association studies have linked a SNP (rs34536443) within <i>TYK2</i> encoding a Proline to Alanine substitution at amino acid 1104, to protection from multiple autoimmune diseases including systemic lupus erythematosus (SLE) and multiple sclerosis (MS).
|
30740104 |
2019 |
|
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1
|
|
0.700 |
GeneticVariation
|
GWASCAT |
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
|
30595370 |
2019 |
|
Systemic onset juvenile chronic arthritis
|
|
0.700 |
GeneticVariation
|
GWASCAT |
Dense genotyping of immune-related disease regions identifies 14 new susceptibility loci for juvenile idiopathic arthritis.
|
23603761 |
2013 |
|
Juvenile pauciarticular chronic arthritis
|
|
0.700 |
GeneticVariation
|
GWASCAT |
Dense genotyping of immune-related disease regions identifies 14 new susceptibility loci for juvenile idiopathic arthritis.
|
23603761 |
2013 |