|
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
|
GWASCAT |
Genetic influences on susceptibility to rheumatoid arthritis in African-Americans.
|
30423114 |
2019 |
|
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 |
|
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
|
GWASCAT |
High-density genotyping of immune loci in Koreans and Europeans identifies eight new rheumatoid arthritis risk loci.
|
24532676 |
2015 |
|
Rheumatoid Arthritis
|
|
0.830 |
GeneticVariation
|
GWASDB |
Genetics of rheumatoid arthritis contributes to biology and drug discovery.
|
24390342 |
2014 |
|
Rheumatoid Arthritis
|
|
0.830 |
GeneticVariation
|
GWASCAT |
Genetics of rheumatoid arthritis contributes to biology and drug discovery.
|
24390342 |
2014 |
|
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 |
|
Psoriasis
|
|
0.810 |
GeneticVariation
|
BEFREE |
No significant changes in p-STAT4 for the psoriasis-associated variant rs34536443 was found.
|
29728633 |
2018 |
|
Psoriasis
|
|
0.810 |
GeneticVariation
|
GWASDB |
Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity.
|
23143594 |
2012 |
|
Psoriasis
|
|
0.810 |
GeneticVariation
|
GWASCAT |
Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity.
|
23143594 |
2012 |
|
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 |
|
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 |
|
Primary biliary cirrhosis
|
|
0.800 |
GeneticVariation
|
GWASDB |
Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis.
|
22961000 |
2012 |
|
Primary biliary cirrhosis
|
|
0.800 |
GeneticVariation
|
GWASCAT |
Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis.
|
22961000 |
2012 |
|
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 |
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 |
|
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 |
In this study, we characterized two rare Tyk2 variants, I684S and P1104A, which have been associated with susceptibility to autoimmune disease.
|
23359498 |
2013 |
|
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 |
|
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 |
|
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 |