|(C;C)||6.3||Much higher (90 fold) risk of developing tuberculosis if exposed to TB bacterium|
|(C;G)||3||Carrier of a tuberculosis susceptibility mutation|
|(G;G)||0||common in complete genomics|
aka c.3310C>G (p.Pro1104Ala or P1104A)
Inherited recessively, this variant appears to greatly increase (OR 89.3, CI: 14.7 - 1725, p=8.3x10e-8) the risk of developing tuberculosis according to a 2018 study, if the carrier of the minor homozygote genotype is exposed to the tuberculosis mycobacterium. The mechanism by which this occurs led to the suggestion that at-risk individuals could potentially prevent or treat the disease with gamma-interferon.[PMID 30578352]
In Europeans, one in 600 people have two copies of the rs10352442(C) variant (which is the c.3310(G) variant), and in the rest of the world, the rate is estimated to be between one in 1,000 to one in 10,000.
[PMID 21140222] Meta-analysis of TYK2 gene polymorphisms association with susceptibility to autoimmune and inflammatory diseases
[PMID 18270328] Somatic mutations and germline sequence variants in the expressed tyrosine kinase genes of patients with de novo acute myeloid leukemia.
[PMID 19293837] Replication analysis identifies TYK2 as a multiple sclerosis susceptibility factor.
[PMID 19888296] A rare variant of the TYK2 gene is confirmed to be associated with multiple sclerosis.
[PMID 20405052] The effect of single nucleotide polymorphisms from genome wide association studies in multiple sclerosis on gene expression.
[PMID 21354972] Tyrosine kinase 2 variant influences T lymphocyte polarization and multiple sclerosis susceptibility.
[PMID 23000200] TYK2 rs34536443 polymorphism is associated with a decreased susceptibility to endometriosis-related infertility.
|Title||Genetics of rheumatoid arthritis contributes to biology and drug discovery.|
|Odds Ratio||1.46 [1.33-1.60]|
|Disease||not specified Familial Atypical Mycobacteriosis|
|CLNDBN||not specified Familial Atypical Mycobacteriosis, Autosomal Recessive|
[PMID 26338038] Influence of TYK2 in systemic sclerosis susceptibility: a new locus in the IL-12 pathway
[PMID 27440135] Investigation of the genetic overlap between rheumatoid arthritis and psoriatic arthritis in a Greek population.